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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs752154048

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:73445355-73445396 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)30 / del(A)28 / del(A)27 / d…

del(A)30 / del(A)28 / del(A)27 / del(A)26 / del(A)25 / del(A)24 / del(A)23 / del(A)22 / del(A)21 / del(A)20 / del(A)19 / del(A)18 / del(A)17 / del(A)16 / del(A)15 / del(A)14 / del(A)13 / del(A)12 / del(A)11 / del(A)10 / del(A)9 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)14 / dup(A)15 / dup(A)16 / dup(A)17 / dup(A)18 / dup(A)19 / dup(A)20 / dup(A)21 / dup(A)22 / dup(A)23 / dup(A)24 / dup(A)25 / dup(A)27 / dup(A)28 / dup(A)29 / dup(A)30 / dup(A)31 / dup(A)32

Variation Type
Indel Insertion and Deletion
Frequency
del(A)30=0.0000 (0/2572, ALFA)
del(A)28=0.0000 (0/2572, ALFA)
del(A)27=0.0000 (0/2572, ALFA) (+ 32 more)
del(A)26=0.0000 (0/2572, ALFA)
del(A)25=0.0000 (0/2572, ALFA)
del(A)24=0.0000 (0/2572, ALFA)
del(A)23=0.0000 (0/2572, ALFA)
del(A)22=0.0000 (0/2572, ALFA)
del(A)21=0.0000 (0/2572, ALFA)
del(A)20=0.0000 (0/2572, ALFA)
del(A)19=0.0000 (0/2572, ALFA)
del(A)18=0.0000 (0/2572, ALFA)
del(A)17=0.0000 (0/2572, ALFA)
del(A)16=0.0000 (0/2572, ALFA)
del(A)15=0.0000 (0/2572, ALFA)
del(A)14=0.0000 (0/2572, ALFA)
del(A)13=0.0000 (0/2572, ALFA)
del(A)12=0.0000 (0/2572, ALFA)
del(A)11=0.0000 (0/2572, ALFA)
del(A)10=0.0000 (0/2572, ALFA)
del(A)9=0.0000 (0/2572, ALFA)
del(A)8=0.0000 (0/2572, ALFA)
del(A)7=0.0000 (0/2572, ALFA)
del(A)6=0.0000 (0/2572, ALFA)
del(A)5=0.0000 (0/2572, ALFA)
del(A)4=0.0000 (0/2572, ALFA)
delAAA=0.0000 (0/2572, ALFA)
delAA=0.0000 (0/2572, ALFA)
delA=0.0000 (0/2572, ALFA)
dupA=0.0000 (0/2572, ALFA)
dupAA=0.0000 (0/2572, ALFA)
dupAAA=0.0000 (0/2572, ALFA)
dup(A)4=0.0000 (0/2572, ALFA)
dup(A)6=0.0000 (0/2572, ALFA)
dup(A)7=0.0000 (0/2572, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NUMB : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 2572 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 1784 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 570 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 18 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 552 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 26 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 24 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 18 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 88 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 16 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 70 AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 2572 (A)42=1.0000 del(A)30=0.0000, del(A)28=0.0000, del(A)27=0.0000, del(A)26=0.0000, del(A)25=0.0000, del(A)24=0.0000, del(A)23=0.0000, del(A)22=0.0000, del(A)21=0.0000, del(A)20=0.0000, del(A)19=0.0000, del(A)18=0.0000, del(A)17=0.0000, del(A)16=0.0000, del(A)15=0.0000, del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)6=0.0000, dup(A)7=0.0000
Allele Frequency Aggregator European Sub 1784 (A)42=1.0000 del(A)30=0.0000, del(A)28=0.0000, del(A)27=0.0000, del(A)26=0.0000, del(A)25=0.0000, del(A)24=0.0000, del(A)23=0.0000, del(A)22=0.0000, del(A)21=0.0000, del(A)20=0.0000, del(A)19=0.0000, del(A)18=0.0000, del(A)17=0.0000, del(A)16=0.0000, del(A)15=0.0000, del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)6=0.0000, dup(A)7=0.0000
Allele Frequency Aggregator African Sub 570 (A)42=1.000 del(A)30=0.000, del(A)28=0.000, del(A)27=0.000, del(A)26=0.000, del(A)25=0.000, del(A)24=0.000, del(A)23=0.000, del(A)22=0.000, del(A)21=0.000, del(A)20=0.000, del(A)19=0.000, del(A)18=0.000, del(A)17=0.000, del(A)16=0.000, del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)7=0.000
Allele Frequency Aggregator Latin American 2 Sub 88 (A)42=1.00 del(A)30=0.00, del(A)28=0.00, del(A)27=0.00, del(A)26=0.00, del(A)25=0.00, del(A)24=0.00, del(A)23=0.00, del(A)22=0.00, del(A)21=0.00, del(A)20=0.00, del(A)19=0.00, del(A)18=0.00, del(A)17=0.00, del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator Other Sub 70 (A)42=1.00 del(A)30=0.00, del(A)28=0.00, del(A)27=0.00, del(A)26=0.00, del(A)25=0.00, del(A)24=0.00, del(A)23=0.00, del(A)22=0.00, del(A)21=0.00, del(A)20=0.00, del(A)19=0.00, del(A)18=0.00, del(A)17=0.00, del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator Asian Sub 26 (A)42=1.00 del(A)30=0.00, del(A)28=0.00, del(A)27=0.00, del(A)26=0.00, del(A)25=0.00, del(A)24=0.00, del(A)23=0.00, del(A)22=0.00, del(A)21=0.00, del(A)20=0.00, del(A)19=0.00, del(A)18=0.00, del(A)17=0.00, del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator Latin American 1 Sub 18 (A)42=1.00 del(A)30=0.00, del(A)28=0.00, del(A)27=0.00, del(A)26=0.00, del(A)25=0.00, del(A)24=0.00, del(A)23=0.00, del(A)22=0.00, del(A)21=0.00, del(A)20=0.00, del(A)19=0.00, del(A)18=0.00, del(A)17=0.00, del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00
Allele Frequency Aggregator South Asian Sub 16 (A)42=1.00 del(A)30=0.00, del(A)28=0.00, del(A)27=0.00, del(A)26=0.00, del(A)25=0.00, del(A)24=0.00, del(A)23=0.00, del(A)22=0.00, del(A)21=0.00, del(A)20=0.00, del(A)19=0.00, del(A)18=0.00, del(A)17=0.00, del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 14 NC_000014.9:g.73445367_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445369_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445370_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445371_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445372_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445373_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445374_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445375_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445376_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445377_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445378_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445379_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445380_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445381_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445382_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445383_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445384_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445385_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445386_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445387_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445388_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445389_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445390_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445391_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445392_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445393_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445394_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445395_73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445396del
GRCh38.p14 chr 14 NC_000014.9:g.73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445395_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445394_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445393_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445392_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445391_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445390_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445389_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445388_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445387_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445386_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445385_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445384_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445383_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445382_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445381_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445380_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445379_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445378_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445377_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445376_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445375_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445374_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445373_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445372_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445370_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445369_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445368_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445367_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445366_73445396dup
GRCh38.p14 chr 14 NC_000014.9:g.73445365_73445396dup
GRCh37.p13 chr 14 NC_000014.8:g.73912075_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912077_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912078_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912079_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912080_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912081_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912082_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912083_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912084_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912085_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912086_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912087_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912088_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912089_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912090_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912091_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912092_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912093_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912094_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912095_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912096_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912097_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912098_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912099_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912100_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912101_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912102_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912103_73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912104del
GRCh37.p13 chr 14 NC_000014.8:g.73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912103_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912102_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912101_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912100_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912099_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912098_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912097_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912096_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912095_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912094_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912093_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912092_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912091_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912090_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912089_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912088_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912087_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912086_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912085_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912084_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912083_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912082_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912081_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912080_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912078_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912077_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912076_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912075_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912074_73912104dup
GRCh37.p13 chr 14 NC_000014.8:g.73912073_73912104dup
NUMB RefSeqGene NG_029061.2:g.18197_18226del
NUMB RefSeqGene NG_029061.2:g.18199_18226del
NUMB RefSeqGene NG_029061.2:g.18200_18226del
NUMB RefSeqGene NG_029061.2:g.18201_18226del
NUMB RefSeqGene NG_029061.2:g.18202_18226del
NUMB RefSeqGene NG_029061.2:g.18203_18226del
NUMB RefSeqGene NG_029061.2:g.18204_18226del
NUMB RefSeqGene NG_029061.2:g.18205_18226del
NUMB RefSeqGene NG_029061.2:g.18206_18226del
NUMB RefSeqGene NG_029061.2:g.18207_18226del
NUMB RefSeqGene NG_029061.2:g.18208_18226del
NUMB RefSeqGene NG_029061.2:g.18209_18226del
NUMB RefSeqGene NG_029061.2:g.18210_18226del
NUMB RefSeqGene NG_029061.2:g.18211_18226del
NUMB RefSeqGene NG_029061.2:g.18212_18226del
NUMB RefSeqGene NG_029061.2:g.18213_18226del
NUMB RefSeqGene NG_029061.2:g.18214_18226del
NUMB RefSeqGene NG_029061.2:g.18215_18226del
NUMB RefSeqGene NG_029061.2:g.18216_18226del
NUMB RefSeqGene NG_029061.2:g.18217_18226del
NUMB RefSeqGene NG_029061.2:g.18218_18226del
NUMB RefSeqGene NG_029061.2:g.18219_18226del
NUMB RefSeqGene NG_029061.2:g.18220_18226del
NUMB RefSeqGene NG_029061.2:g.18221_18226del
NUMB RefSeqGene NG_029061.2:g.18222_18226del
NUMB RefSeqGene NG_029061.2:g.18223_18226del
NUMB RefSeqGene NG_029061.2:g.18224_18226del
NUMB RefSeqGene NG_029061.2:g.18225_18226del
NUMB RefSeqGene NG_029061.2:g.18226del
NUMB RefSeqGene NG_029061.2:g.18226dup
NUMB RefSeqGene NG_029061.2:g.18225_18226dup
NUMB RefSeqGene NG_029061.2:g.18224_18226dup
NUMB RefSeqGene NG_029061.2:g.18223_18226dup
NUMB RefSeqGene NG_029061.2:g.18222_18226dup
NUMB RefSeqGene NG_029061.2:g.18221_18226dup
NUMB RefSeqGene NG_029061.2:g.18220_18226dup
NUMB RefSeqGene NG_029061.2:g.18219_18226dup
NUMB RefSeqGene NG_029061.2:g.18218_18226dup
NUMB RefSeqGene NG_029061.2:g.18217_18226dup
NUMB RefSeqGene NG_029061.2:g.18216_18226dup
NUMB RefSeqGene NG_029061.2:g.18215_18226dup
NUMB RefSeqGene NG_029061.2:g.18214_18226dup
NUMB RefSeqGene NG_029061.2:g.18213_18226dup
NUMB RefSeqGene NG_029061.2:g.18212_18226dup
NUMB RefSeqGene NG_029061.2:g.18211_18226dup
NUMB RefSeqGene NG_029061.2:g.18210_18226dup
NUMB RefSeqGene NG_029061.2:g.18209_18226dup
NUMB RefSeqGene NG_029061.2:g.18208_18226dup
NUMB RefSeqGene NG_029061.2:g.18207_18226dup
NUMB RefSeqGene NG_029061.2:g.18206_18226dup
NUMB RefSeqGene NG_029061.2:g.18205_18226dup
NUMB RefSeqGene NG_029061.2:g.18204_18226dup
NUMB RefSeqGene NG_029061.2:g.18203_18226dup
NUMB RefSeqGene NG_029061.2:g.18202_18226dup
NUMB RefSeqGene NG_029061.2:g.18200_18226dup
NUMB RefSeqGene NG_029061.2:g.18199_18226dup
NUMB RefSeqGene NG_029061.2:g.18198_18226dup
NUMB RefSeqGene NG_029061.2:g.18197_18226dup
NUMB RefSeqGene NG_029061.2:g.18196_18226dup
NUMB RefSeqGene NG_029061.2:g.18195_18226dup
Gene: NUMB, NUMB endocytic adaptor protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NUMB transcript variant 1 NM_001005743.2:c.-233+131…

NM_001005743.2:c.-233+13109_-233+13138del

N/A Intron Variant
NUMB transcript variant 2 NM_001005744.2:c.-233+131…

NM_001005744.2:c.-233+13109_-233+13138del

N/A Intron Variant
NUMB transcript variant 4 NM_001005745.2:c.-233+131…

NM_001005745.2:c.-233+13109_-233+13138del

N/A Intron Variant
NUMB transcript variant 5 NM_001320114.2:c.-148+122…

NM_001320114.2:c.-148+12245_-148+12274del

N/A Intron Variant
NUMB transcript variant 3 NM_003744.6:c.-233+13109_…

NM_003744.6:c.-233+13109_-233+13138del

N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)42= del(A)30 del(A)28 del(A)27 del(A)26 del(A)25 del(A)24 del(A)23 del(A)22 del(A)21 del(A)20 del(A)19 del(A)18 del(A)17 del(A)16 del(A)15 del(A)14 del(A)13 del(A)12 del(A)11 del(A)10 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)14 dup(A)15 dup(A)16 dup(A)17 dup(A)18 dup(A)19 dup(A)20 dup(A)21 dup(A)22 dup(A)23 dup(A)24 dup(A)25 dup(A)27 dup(A)28 dup(A)29 dup(A)30 dup(A)31 dup(A)32
GRCh38.p14 chr 14 NC_000014.9:g.73445355_73445396= NC_000014.9:g.73445367_73445396del NC_000014.9:g.73445369_73445396del NC_000014.9:g.73445370_73445396del NC_000014.9:g.73445371_73445396del NC_000014.9:g.73445372_73445396del NC_000014.9:g.73445373_73445396del NC_000014.9:g.73445374_73445396del NC_000014.9:g.73445375_73445396del NC_000014.9:g.73445376_73445396del NC_000014.9:g.73445377_73445396del NC_000014.9:g.73445378_73445396del NC_000014.9:g.73445379_73445396del NC_000014.9:g.73445380_73445396del NC_000014.9:g.73445381_73445396del NC_000014.9:g.73445382_73445396del NC_000014.9:g.73445383_73445396del NC_000014.9:g.73445384_73445396del NC_000014.9:g.73445385_73445396del NC_000014.9:g.73445386_73445396del NC_000014.9:g.73445387_73445396del NC_000014.9:g.73445388_73445396del NC_000014.9:g.73445389_73445396del NC_000014.9:g.73445390_73445396del NC_000014.9:g.73445391_73445396del NC_000014.9:g.73445392_73445396del NC_000014.9:g.73445393_73445396del NC_000014.9:g.73445394_73445396del NC_000014.9:g.73445395_73445396del NC_000014.9:g.73445396del NC_000014.9:g.73445396dup NC_000014.9:g.73445395_73445396dup NC_000014.9:g.73445394_73445396dup NC_000014.9:g.73445393_73445396dup NC_000014.9:g.73445392_73445396dup NC_000014.9:g.73445391_73445396dup NC_000014.9:g.73445390_73445396dup NC_000014.9:g.73445389_73445396dup NC_000014.9:g.73445388_73445396dup NC_000014.9:g.73445387_73445396dup NC_000014.9:g.73445386_73445396dup NC_000014.9:g.73445385_73445396dup NC_000014.9:g.73445384_73445396dup NC_000014.9:g.73445383_73445396dup NC_000014.9:g.73445382_73445396dup NC_000014.9:g.73445381_73445396dup NC_000014.9:g.73445380_73445396dup NC_000014.9:g.73445379_73445396dup NC_000014.9:g.73445378_73445396dup NC_000014.9:g.73445377_73445396dup NC_000014.9:g.73445376_73445396dup NC_000014.9:g.73445375_73445396dup NC_000014.9:g.73445374_73445396dup NC_000014.9:g.73445373_73445396dup NC_000014.9:g.73445372_73445396dup NC_000014.9:g.73445370_73445396dup NC_000014.9:g.73445369_73445396dup NC_000014.9:g.73445368_73445396dup NC_000014.9:g.73445367_73445396dup NC_000014.9:g.73445366_73445396dup NC_000014.9:g.73445365_73445396dup
GRCh37.p13 chr 14 NC_000014.8:g.73912063_73912104= NC_000014.8:g.73912075_73912104del NC_000014.8:g.73912077_73912104del NC_000014.8:g.73912078_73912104del NC_000014.8:g.73912079_73912104del NC_000014.8:g.73912080_73912104del NC_000014.8:g.73912081_73912104del NC_000014.8:g.73912082_73912104del NC_000014.8:g.73912083_73912104del NC_000014.8:g.73912084_73912104del NC_000014.8:g.73912085_73912104del NC_000014.8:g.73912086_73912104del NC_000014.8:g.73912087_73912104del NC_000014.8:g.73912088_73912104del NC_000014.8:g.73912089_73912104del NC_000014.8:g.73912090_73912104del NC_000014.8:g.73912091_73912104del NC_000014.8:g.73912092_73912104del NC_000014.8:g.73912093_73912104del NC_000014.8:g.73912094_73912104del NC_000014.8:g.73912095_73912104del NC_000014.8:g.73912096_73912104del NC_000014.8:g.73912097_73912104del NC_000014.8:g.73912098_73912104del NC_000014.8:g.73912099_73912104del NC_000014.8:g.73912100_73912104del NC_000014.8:g.73912101_73912104del NC_000014.8:g.73912102_73912104del NC_000014.8:g.73912103_73912104del NC_000014.8:g.73912104del NC_000014.8:g.73912104dup NC_000014.8:g.73912103_73912104dup NC_000014.8:g.73912102_73912104dup NC_000014.8:g.73912101_73912104dup NC_000014.8:g.73912100_73912104dup NC_000014.8:g.73912099_73912104dup NC_000014.8:g.73912098_73912104dup NC_000014.8:g.73912097_73912104dup NC_000014.8:g.73912096_73912104dup NC_000014.8:g.73912095_73912104dup NC_000014.8:g.73912094_73912104dup NC_000014.8:g.73912093_73912104dup NC_000014.8:g.73912092_73912104dup NC_000014.8:g.73912091_73912104dup NC_000014.8:g.73912090_73912104dup NC_000014.8:g.73912089_73912104dup NC_000014.8:g.73912088_73912104dup NC_000014.8:g.73912087_73912104dup NC_000014.8:g.73912086_73912104dup NC_000014.8:g.73912085_73912104dup NC_000014.8:g.73912084_73912104dup NC_000014.8:g.73912083_73912104dup NC_000014.8:g.73912082_73912104dup NC_000014.8:g.73912081_73912104dup NC_000014.8:g.73912080_73912104dup NC_000014.8:g.73912078_73912104dup NC_000014.8:g.73912077_73912104dup NC_000014.8:g.73912076_73912104dup NC_000014.8:g.73912075_73912104dup NC_000014.8:g.73912074_73912104dup NC_000014.8:g.73912073_73912104dup
NUMB RefSeqGene NG_029061.2:g.18185_18226= NG_029061.2:g.18197_18226del NG_029061.2:g.18199_18226del NG_029061.2:g.18200_18226del NG_029061.2:g.18201_18226del NG_029061.2:g.18202_18226del NG_029061.2:g.18203_18226del NG_029061.2:g.18204_18226del NG_029061.2:g.18205_18226del NG_029061.2:g.18206_18226del NG_029061.2:g.18207_18226del NG_029061.2:g.18208_18226del NG_029061.2:g.18209_18226del NG_029061.2:g.18210_18226del NG_029061.2:g.18211_18226del NG_029061.2:g.18212_18226del NG_029061.2:g.18213_18226del NG_029061.2:g.18214_18226del NG_029061.2:g.18215_18226del NG_029061.2:g.18216_18226del NG_029061.2:g.18217_18226del NG_029061.2:g.18218_18226del NG_029061.2:g.18219_18226del NG_029061.2:g.18220_18226del NG_029061.2:g.18221_18226del NG_029061.2:g.18222_18226del NG_029061.2:g.18223_18226del NG_029061.2:g.18224_18226del NG_029061.2:g.18225_18226del NG_029061.2:g.18226del NG_029061.2:g.18226dup NG_029061.2:g.18225_18226dup NG_029061.2:g.18224_18226dup NG_029061.2:g.18223_18226dup NG_029061.2:g.18222_18226dup NG_029061.2:g.18221_18226dup NG_029061.2:g.18220_18226dup NG_029061.2:g.18219_18226dup NG_029061.2:g.18218_18226dup NG_029061.2:g.18217_18226dup NG_029061.2:g.18216_18226dup NG_029061.2:g.18215_18226dup NG_029061.2:g.18214_18226dup NG_029061.2:g.18213_18226dup NG_029061.2:g.18212_18226dup NG_029061.2:g.18211_18226dup NG_029061.2:g.18210_18226dup NG_029061.2:g.18209_18226dup NG_029061.2:g.18208_18226dup NG_029061.2:g.18207_18226dup NG_029061.2:g.18206_18226dup NG_029061.2:g.18205_18226dup NG_029061.2:g.18204_18226dup NG_029061.2:g.18203_18226dup NG_029061.2:g.18202_18226dup NG_029061.2:g.18200_18226dup NG_029061.2:g.18199_18226dup NG_029061.2:g.18198_18226dup NG_029061.2:g.18197_18226dup NG_029061.2:g.18196_18226dup NG_029061.2:g.18195_18226dup
NUMB transcript variant 1 NM_001005743.1:c.-233+13136= NM_001005743.1:c.-233+13107_-233+13136del NM_001005743.1:c.-233+13109_-233+13136del NM_001005743.1:c.-233+13110_-233+13136del NM_001005743.1:c.-233+13111_-233+13136del NM_001005743.1:c.-233+13112_-233+13136del NM_001005743.1:c.-233+13113_-233+13136del NM_001005743.1:c.-233+13114_-233+13136del NM_001005743.1:c.-233+13115_-233+13136del NM_001005743.1:c.-233+13116_-233+13136del NM_001005743.1:c.-233+13117_-233+13136del NM_001005743.1:c.-233+13118_-233+13136del NM_001005743.1:c.-233+13119_-233+13136del NM_001005743.1:c.-233+13120_-233+13136del NM_001005743.1:c.-233+13121_-233+13136del NM_001005743.1:c.-233+13122_-233+13136del NM_001005743.1:c.-233+13123_-233+13136del NM_001005743.1:c.-233+13124_-233+13136del NM_001005743.1:c.-233+13125_-233+13136del NM_001005743.1:c.-233+13126_-233+13136del NM_001005743.1:c.-233+13127_-233+13136del NM_001005743.1:c.-233+13128_-233+13136del NM_001005743.1:c.-233+13129_-233+13136del NM_001005743.1:c.-233+13130_-233+13136del NM_001005743.1:c.-233+13131_-233+13136del NM_001005743.1:c.-233+13132_-233+13136del NM_001005743.1:c.-233+13133_-233+13136del NM_001005743.1:c.-233+13134_-233+13136del NM_001005743.1:c.-233+13135_-233+13136del NM_001005743.1:c.-233+13136del NM_001005743.1:c.-233+13136dup NM_001005743.1:c.-233+13135_-233+13136dup NM_001005743.1:c.-233+13134_-233+13136dup NM_001005743.1:c.-233+13133_-233+13136dup NM_001005743.1:c.-233+13132_-233+13136dup NM_001005743.1:c.-233+13131_-233+13136dup NM_001005743.1:c.-233+13130_-233+13136dup NM_001005743.1:c.-233+13129_-233+13136dup NM_001005743.1:c.-233+13128_-233+13136dup NM_001005743.1:c.-233+13127_-233+13136dup NM_001005743.1:c.-233+13126_-233+13136dup NM_001005743.1:c.-233+13125_-233+13136dup NM_001005743.1:c.-233+13124_-233+13136dup NM_001005743.1:c.-233+13123_-233+13136dup NM_001005743.1:c.-233+13122_-233+13136dup NM_001005743.1:c.-233+13121_-233+13136dup NM_001005743.1:c.-233+13120_-233+13136dup NM_001005743.1:c.-233+13119_-233+13136dup NM_001005743.1:c.-233+13118_-233+13136dup NM_001005743.1:c.-233+13117_-233+13136dup NM_001005743.1:c.-233+13116_-233+13136dup NM_001005743.1:c.-233+13115_-233+13136dup NM_001005743.1:c.-233+13114_-233+13136dup NM_001005743.1:c.-233+13113_-233+13136dup NM_001005743.1:c.-233+13112_-233+13136dup NM_001005743.1:c.-233+13110_-233+13136dup NM_001005743.1:c.-233+13109_-233+13136dup NM_001005743.1:c.-233+13108_-233+13136dup NM_001005743.1:c.-233+13107_-233+13136dup NM_001005743.1:c.-233+13106_-233+13136dup NM_001005743.1:c.-233+13105_-233+13136dup
NUMB transcript variant 1 NM_001005743.2:c.-233+13138= NM_001005743.2:c.-233+13109_-233+13138del NM_001005743.2:c.-233+13111_-233+13138del NM_001005743.2:c.-233+13112_-233+13138del NM_001005743.2:c.-233+13113_-233+13138del NM_001005743.2:c.-233+13114_-233+13138del NM_001005743.2:c.-233+13115_-233+13138del NM_001005743.2:c.-233+13116_-233+13138del NM_001005743.2:c.-233+13117_-233+13138del NM_001005743.2:c.-233+13118_-233+13138del NM_001005743.2:c.-233+13119_-233+13138del NM_001005743.2:c.-233+13120_-233+13138del NM_001005743.2:c.-233+13121_-233+13138del NM_001005743.2:c.-233+13122_-233+13138del NM_001005743.2:c.-233+13123_-233+13138del NM_001005743.2:c.-233+13124_-233+13138del NM_001005743.2:c.-233+13125_-233+13138del NM_001005743.2:c.-233+13126_-233+13138del NM_001005743.2:c.-233+13127_-233+13138del NM_001005743.2:c.-233+13128_-233+13138del NM_001005743.2:c.-233+13129_-233+13138del NM_001005743.2:c.-233+13130_-233+13138del NM_001005743.2:c.-233+13131_-233+13138del NM_001005743.2:c.-233+13132_-233+13138del NM_001005743.2:c.-233+13133_-233+13138del NM_001005743.2:c.-233+13134_-233+13138del NM_001005743.2:c.-233+13135_-233+13138del NM_001005743.2:c.-233+13136_-233+13138del NM_001005743.2:c.-233+13137_-233+13138del NM_001005743.2:c.-233+13138del NM_001005743.2:c.-233+13138dup NM_001005743.2:c.-233+13137_-233+13138dup NM_001005743.2:c.-233+13136_-233+13138dup NM_001005743.2:c.-233+13135_-233+13138dup NM_001005743.2:c.-233+13134_-233+13138dup NM_001005743.2:c.-233+13133_-233+13138dup NM_001005743.2:c.-233+13132_-233+13138dup NM_001005743.2:c.-233+13131_-233+13138dup NM_001005743.2:c.-233+13130_-233+13138dup NM_001005743.2:c.-233+13129_-233+13138dup NM_001005743.2:c.-233+13128_-233+13138dup NM_001005743.2:c.-233+13127_-233+13138dup NM_001005743.2:c.-233+13126_-233+13138dup NM_001005743.2:c.-233+13125_-233+13138dup NM_001005743.2:c.-233+13124_-233+13138dup NM_001005743.2:c.-233+13123_-233+13138dup NM_001005743.2:c.-233+13122_-233+13138dup NM_001005743.2:c.-233+13121_-233+13138dup NM_001005743.2:c.-233+13120_-233+13138dup NM_001005743.2:c.-233+13119_-233+13138dup NM_001005743.2:c.-233+13118_-233+13138dup NM_001005743.2:c.-233+13117_-233+13138dup NM_001005743.2:c.-233+13116_-233+13138dup NM_001005743.2:c.-233+13115_-233+13138dup NM_001005743.2:c.-233+13114_-233+13138dup NM_001005743.2:c.-233+13112_-233+13138dup NM_001005743.2:c.-233+13111_-233+13138dup NM_001005743.2:c.-233+13110_-233+13138dup NM_001005743.2:c.-233+13109_-233+13138dup NM_001005743.2:c.-233+13108_-233+13138dup NM_001005743.2:c.-233+13107_-233+13138dup
NUMB transcript variant 2 NM_001005744.1:c.-233+13136= NM_001005744.1:c.-233+13107_-233+13136del NM_001005744.1:c.-233+13109_-233+13136del NM_001005744.1:c.-233+13110_-233+13136del NM_001005744.1:c.-233+13111_-233+13136del NM_001005744.1:c.-233+13112_-233+13136del NM_001005744.1:c.-233+13113_-233+13136del NM_001005744.1:c.-233+13114_-233+13136del NM_001005744.1:c.-233+13115_-233+13136del NM_001005744.1:c.-233+13116_-233+13136del NM_001005744.1:c.-233+13117_-233+13136del NM_001005744.1:c.-233+13118_-233+13136del NM_001005744.1:c.-233+13119_-233+13136del NM_001005744.1:c.-233+13120_-233+13136del NM_001005744.1:c.-233+13121_-233+13136del NM_001005744.1:c.-233+13122_-233+13136del NM_001005744.1:c.-233+13123_-233+13136del NM_001005744.1:c.-233+13124_-233+13136del NM_001005744.1:c.-233+13125_-233+13136del NM_001005744.1:c.-233+13126_-233+13136del NM_001005744.1:c.-233+13127_-233+13136del NM_001005744.1:c.-233+13128_-233+13136del NM_001005744.1:c.-233+13129_-233+13136del NM_001005744.1:c.-233+13130_-233+13136del NM_001005744.1:c.-233+13131_-233+13136del NM_001005744.1:c.-233+13132_-233+13136del NM_001005744.1:c.-233+13133_-233+13136del NM_001005744.1:c.-233+13134_-233+13136del NM_001005744.1:c.-233+13135_-233+13136del NM_001005744.1:c.-233+13136del NM_001005744.1:c.-233+13136dup NM_001005744.1:c.-233+13135_-233+13136dup NM_001005744.1:c.-233+13134_-233+13136dup NM_001005744.1:c.-233+13133_-233+13136dup NM_001005744.1:c.-233+13132_-233+13136dup NM_001005744.1:c.-233+13131_-233+13136dup NM_001005744.1:c.-233+13130_-233+13136dup NM_001005744.1:c.-233+13129_-233+13136dup NM_001005744.1:c.-233+13128_-233+13136dup NM_001005744.1:c.-233+13127_-233+13136dup NM_001005744.1:c.-233+13126_-233+13136dup NM_001005744.1:c.-233+13125_-233+13136dup NM_001005744.1:c.-233+13124_-233+13136dup NM_001005744.1:c.-233+13123_-233+13136dup NM_001005744.1:c.-233+13122_-233+13136dup NM_001005744.1:c.-233+13121_-233+13136dup NM_001005744.1:c.-233+13120_-233+13136dup NM_001005744.1:c.-233+13119_-233+13136dup NM_001005744.1:c.-233+13118_-233+13136dup NM_001005744.1:c.-233+13117_-233+13136dup NM_001005744.1:c.-233+13116_-233+13136dup NM_001005744.1:c.-233+13115_-233+13136dup NM_001005744.1:c.-233+13114_-233+13136dup NM_001005744.1:c.-233+13113_-233+13136dup NM_001005744.1:c.-233+13112_-233+13136dup NM_001005744.1:c.-233+13110_-233+13136dup NM_001005744.1:c.-233+13109_-233+13136dup NM_001005744.1:c.-233+13108_-233+13136dup NM_001005744.1:c.-233+13107_-233+13136dup NM_001005744.1:c.-233+13106_-233+13136dup NM_001005744.1:c.-233+13105_-233+13136dup
NUMB transcript variant 2 NM_001005744.2:c.-233+13138= NM_001005744.2:c.-233+13109_-233+13138del NM_001005744.2:c.-233+13111_-233+13138del NM_001005744.2:c.-233+13112_-233+13138del NM_001005744.2:c.-233+13113_-233+13138del NM_001005744.2:c.-233+13114_-233+13138del NM_001005744.2:c.-233+13115_-233+13138del NM_001005744.2:c.-233+13116_-233+13138del NM_001005744.2:c.-233+13117_-233+13138del NM_001005744.2:c.-233+13118_-233+13138del NM_001005744.2:c.-233+13119_-233+13138del NM_001005744.2:c.-233+13120_-233+13138del NM_001005744.2:c.-233+13121_-233+13138del NM_001005744.2:c.-233+13122_-233+13138del NM_001005744.2:c.-233+13123_-233+13138del NM_001005744.2:c.-233+13124_-233+13138del NM_001005744.2:c.-233+13125_-233+13138del NM_001005744.2:c.-233+13126_-233+13138del NM_001005744.2:c.-233+13127_-233+13138del NM_001005744.2:c.-233+13128_-233+13138del NM_001005744.2:c.-233+13129_-233+13138del NM_001005744.2:c.-233+13130_-233+13138del NM_001005744.2:c.-233+13131_-233+13138del NM_001005744.2:c.-233+13132_-233+13138del NM_001005744.2:c.-233+13133_-233+13138del NM_001005744.2:c.-233+13134_-233+13138del NM_001005744.2:c.-233+13135_-233+13138del NM_001005744.2:c.-233+13136_-233+13138del NM_001005744.2:c.-233+13137_-233+13138del NM_001005744.2:c.-233+13138del NM_001005744.2:c.-233+13138dup NM_001005744.2:c.-233+13137_-233+13138dup NM_001005744.2:c.-233+13136_-233+13138dup NM_001005744.2:c.-233+13135_-233+13138dup NM_001005744.2:c.-233+13134_-233+13138dup NM_001005744.2:c.-233+13133_-233+13138dup NM_001005744.2:c.-233+13132_-233+13138dup NM_001005744.2:c.-233+13131_-233+13138dup NM_001005744.2:c.-233+13130_-233+13138dup NM_001005744.2:c.-233+13129_-233+13138dup NM_001005744.2:c.-233+13128_-233+13138dup NM_001005744.2:c.-233+13127_-233+13138dup NM_001005744.2:c.-233+13126_-233+13138dup NM_001005744.2:c.-233+13125_-233+13138dup NM_001005744.2:c.-233+13124_-233+13138dup NM_001005744.2:c.-233+13123_-233+13138dup NM_001005744.2:c.-233+13122_-233+13138dup NM_001005744.2:c.-233+13121_-233+13138dup NM_001005744.2:c.-233+13120_-233+13138dup NM_001005744.2:c.-233+13119_-233+13138dup NM_001005744.2:c.-233+13118_-233+13138dup NM_001005744.2:c.-233+13117_-233+13138dup NM_001005744.2:c.-233+13116_-233+13138dup NM_001005744.2:c.-233+13115_-233+13138dup NM_001005744.2:c.-233+13114_-233+13138dup NM_001005744.2:c.-233+13112_-233+13138dup NM_001005744.2:c.-233+13111_-233+13138dup NM_001005744.2:c.-233+13110_-233+13138dup NM_001005744.2:c.-233+13109_-233+13138dup NM_001005744.2:c.-233+13108_-233+13138dup NM_001005744.2:c.-233+13107_-233+13138dup
NUMB transcript variant 4 NM_001005745.1:c.-233+13136= NM_001005745.1:c.-233+13107_-233+13136del NM_001005745.1:c.-233+13109_-233+13136del NM_001005745.1:c.-233+13110_-233+13136del NM_001005745.1:c.-233+13111_-233+13136del NM_001005745.1:c.-233+13112_-233+13136del NM_001005745.1:c.-233+13113_-233+13136del NM_001005745.1:c.-233+13114_-233+13136del NM_001005745.1:c.-233+13115_-233+13136del NM_001005745.1:c.-233+13116_-233+13136del NM_001005745.1:c.-233+13117_-233+13136del NM_001005745.1:c.-233+13118_-233+13136del NM_001005745.1:c.-233+13119_-233+13136del NM_001005745.1:c.-233+13120_-233+13136del NM_001005745.1:c.-233+13121_-233+13136del NM_001005745.1:c.-233+13122_-233+13136del NM_001005745.1:c.-233+13123_-233+13136del NM_001005745.1:c.-233+13124_-233+13136del NM_001005745.1:c.-233+13125_-233+13136del NM_001005745.1:c.-233+13126_-233+13136del NM_001005745.1:c.-233+13127_-233+13136del NM_001005745.1:c.-233+13128_-233+13136del NM_001005745.1:c.-233+13129_-233+13136del NM_001005745.1:c.-233+13130_-233+13136del NM_001005745.1:c.-233+13131_-233+13136del NM_001005745.1:c.-233+13132_-233+13136del NM_001005745.1:c.-233+13133_-233+13136del NM_001005745.1:c.-233+13134_-233+13136del NM_001005745.1:c.-233+13135_-233+13136del NM_001005745.1:c.-233+13136del NM_001005745.1:c.-233+13136dup NM_001005745.1:c.-233+13135_-233+13136dup NM_001005745.1:c.-233+13134_-233+13136dup NM_001005745.1:c.-233+13133_-233+13136dup NM_001005745.1:c.-233+13132_-233+13136dup NM_001005745.1:c.-233+13131_-233+13136dup NM_001005745.1:c.-233+13130_-233+13136dup NM_001005745.1:c.-233+13129_-233+13136dup NM_001005745.1:c.-233+13128_-233+13136dup NM_001005745.1:c.-233+13127_-233+13136dup NM_001005745.1:c.-233+13126_-233+13136dup NM_001005745.1:c.-233+13125_-233+13136dup NM_001005745.1:c.-233+13124_-233+13136dup NM_001005745.1:c.-233+13123_-233+13136dup NM_001005745.1:c.-233+13122_-233+13136dup NM_001005745.1:c.-233+13121_-233+13136dup NM_001005745.1:c.-233+13120_-233+13136dup NM_001005745.1:c.-233+13119_-233+13136dup NM_001005745.1:c.-233+13118_-233+13136dup NM_001005745.1:c.-233+13117_-233+13136dup NM_001005745.1:c.-233+13116_-233+13136dup NM_001005745.1:c.-233+13115_-233+13136dup NM_001005745.1:c.-233+13114_-233+13136dup NM_001005745.1:c.-233+13113_-233+13136dup NM_001005745.1:c.-233+13112_-233+13136dup NM_001005745.1:c.-233+13110_-233+13136dup NM_001005745.1:c.-233+13109_-233+13136dup NM_001005745.1:c.-233+13108_-233+13136dup NM_001005745.1:c.-233+13107_-233+13136dup NM_001005745.1:c.-233+13106_-233+13136dup NM_001005745.1:c.-233+13105_-233+13136dup
NUMB transcript variant 4 NM_001005745.2:c.-233+13138= NM_001005745.2:c.-233+13109_-233+13138del NM_001005745.2:c.-233+13111_-233+13138del NM_001005745.2:c.-233+13112_-233+13138del NM_001005745.2:c.-233+13113_-233+13138del NM_001005745.2:c.-233+13114_-233+13138del NM_001005745.2:c.-233+13115_-233+13138del NM_001005745.2:c.-233+13116_-233+13138del NM_001005745.2:c.-233+13117_-233+13138del NM_001005745.2:c.-233+13118_-233+13138del NM_001005745.2:c.-233+13119_-233+13138del NM_001005745.2:c.-233+13120_-233+13138del NM_001005745.2:c.-233+13121_-233+13138del NM_001005745.2:c.-233+13122_-233+13138del NM_001005745.2:c.-233+13123_-233+13138del NM_001005745.2:c.-233+13124_-233+13138del NM_001005745.2:c.-233+13125_-233+13138del NM_001005745.2:c.-233+13126_-233+13138del NM_001005745.2:c.-233+13127_-233+13138del NM_001005745.2:c.-233+13128_-233+13138del NM_001005745.2:c.-233+13129_-233+13138del NM_001005745.2:c.-233+13130_-233+13138del NM_001005745.2:c.-233+13131_-233+13138del NM_001005745.2:c.-233+13132_-233+13138del NM_001005745.2:c.-233+13133_-233+13138del NM_001005745.2:c.-233+13134_-233+13138del NM_001005745.2:c.-233+13135_-233+13138del NM_001005745.2:c.-233+13136_-233+13138del NM_001005745.2:c.-233+13137_-233+13138del NM_001005745.2:c.-233+13138del NM_001005745.2:c.-233+13138dup NM_001005745.2:c.-233+13137_-233+13138dup NM_001005745.2:c.-233+13136_-233+13138dup NM_001005745.2:c.-233+13135_-233+13138dup NM_001005745.2:c.-233+13134_-233+13138dup NM_001005745.2:c.-233+13133_-233+13138dup NM_001005745.2:c.-233+13132_-233+13138dup NM_001005745.2:c.-233+13131_-233+13138dup NM_001005745.2:c.-233+13130_-233+13138dup NM_001005745.2:c.-233+13129_-233+13138dup NM_001005745.2:c.-233+13128_-233+13138dup NM_001005745.2:c.-233+13127_-233+13138dup NM_001005745.2:c.-233+13126_-233+13138dup NM_001005745.2:c.-233+13125_-233+13138dup NM_001005745.2:c.-233+13124_-233+13138dup NM_001005745.2:c.-233+13123_-233+13138dup NM_001005745.2:c.-233+13122_-233+13138dup NM_001005745.2:c.-233+13121_-233+13138dup NM_001005745.2:c.-233+13120_-233+13138dup NM_001005745.2:c.-233+13119_-233+13138dup NM_001005745.2:c.-233+13118_-233+13138dup NM_001005745.2:c.-233+13117_-233+13138dup NM_001005745.2:c.-233+13116_-233+13138dup NM_001005745.2:c.-233+13115_-233+13138dup NM_001005745.2:c.-233+13114_-233+13138dup NM_001005745.2:c.-233+13112_-233+13138dup NM_001005745.2:c.-233+13111_-233+13138dup NM_001005745.2:c.-233+13110_-233+13138dup NM_001005745.2:c.-233+13109_-233+13138dup NM_001005745.2:c.-233+13108_-233+13138dup NM_001005745.2:c.-233+13107_-233+13138dup
NUMB transcript variant 5 NM_001320114.2:c.-148+12274= NM_001320114.2:c.-148+12245_-148+12274del NM_001320114.2:c.-148+12247_-148+12274del NM_001320114.2:c.-148+12248_-148+12274del NM_001320114.2:c.-148+12249_-148+12274del NM_001320114.2:c.-148+12250_-148+12274del NM_001320114.2:c.-148+12251_-148+12274del NM_001320114.2:c.-148+12252_-148+12274del NM_001320114.2:c.-148+12253_-148+12274del NM_001320114.2:c.-148+12254_-148+12274del NM_001320114.2:c.-148+12255_-148+12274del NM_001320114.2:c.-148+12256_-148+12274del NM_001320114.2:c.-148+12257_-148+12274del NM_001320114.2:c.-148+12258_-148+12274del NM_001320114.2:c.-148+12259_-148+12274del NM_001320114.2:c.-148+12260_-148+12274del NM_001320114.2:c.-148+12261_-148+12274del NM_001320114.2:c.-148+12262_-148+12274del NM_001320114.2:c.-148+12263_-148+12274del NM_001320114.2:c.-148+12264_-148+12274del NM_001320114.2:c.-148+12265_-148+12274del NM_001320114.2:c.-148+12266_-148+12274del NM_001320114.2:c.-148+12267_-148+12274del NM_001320114.2:c.-148+12268_-148+12274del NM_001320114.2:c.-148+12269_-148+12274del NM_001320114.2:c.-148+12270_-148+12274del NM_001320114.2:c.-148+12271_-148+12274del NM_001320114.2:c.-148+12272_-148+12274del NM_001320114.2:c.-148+12273_-148+12274del NM_001320114.2:c.-148+12274del NM_001320114.2:c.-148+12274dup NM_001320114.2:c.-148+12273_-148+12274dup NM_001320114.2:c.-148+12272_-148+12274dup NM_001320114.2:c.-148+12271_-148+12274dup NM_001320114.2:c.-148+12270_-148+12274dup NM_001320114.2:c.-148+12269_-148+12274dup NM_001320114.2:c.-148+12268_-148+12274dup NM_001320114.2:c.-148+12267_-148+12274dup NM_001320114.2:c.-148+12266_-148+12274dup NM_001320114.2:c.-148+12265_-148+12274dup NM_001320114.2:c.-148+12264_-148+12274dup NM_001320114.2:c.-148+12263_-148+12274dup NM_001320114.2:c.-148+12262_-148+12274dup NM_001320114.2:c.-148+12261_-148+12274dup NM_001320114.2:c.-148+12260_-148+12274dup NM_001320114.2:c.-148+12259_-148+12274dup NM_001320114.2:c.-148+12258_-148+12274dup NM_001320114.2:c.-148+12257_-148+12274dup NM_001320114.2:c.-148+12256_-148+12274dup NM_001320114.2:c.-148+12255_-148+12274dup NM_001320114.2:c.-148+12254_-148+12274dup NM_001320114.2:c.-148+12253_-148+12274dup NM_001320114.2:c.-148+12252_-148+12274dup NM_001320114.2:c.-148+12251_-148+12274dup NM_001320114.2:c.-148+12250_-148+12274dup NM_001320114.2:c.-148+12248_-148+12274dup NM_001320114.2:c.-148+12247_-148+12274dup NM_001320114.2:c.-148+12246_-148+12274dup NM_001320114.2:c.-148+12245_-148+12274dup NM_001320114.2:c.-148+12244_-148+12274dup NM_001320114.2:c.-148+12243_-148+12274dup
NUMB transcript variant 3 NM_003744.5:c.-233+13136= NM_003744.5:c.-233+13107_-233+13136del NM_003744.5:c.-233+13109_-233+13136del NM_003744.5:c.-233+13110_-233+13136del NM_003744.5:c.-233+13111_-233+13136del NM_003744.5:c.-233+13112_-233+13136del NM_003744.5:c.-233+13113_-233+13136del NM_003744.5:c.-233+13114_-233+13136del NM_003744.5:c.-233+13115_-233+13136del NM_003744.5:c.-233+13116_-233+13136del NM_003744.5:c.-233+13117_-233+13136del NM_003744.5:c.-233+13118_-233+13136del NM_003744.5:c.-233+13119_-233+13136del NM_003744.5:c.-233+13120_-233+13136del NM_003744.5:c.-233+13121_-233+13136del NM_003744.5:c.-233+13122_-233+13136del NM_003744.5:c.-233+13123_-233+13136del NM_003744.5:c.-233+13124_-233+13136del NM_003744.5:c.-233+13125_-233+13136del NM_003744.5:c.-233+13126_-233+13136del NM_003744.5:c.-233+13127_-233+13136del NM_003744.5:c.-233+13128_-233+13136del NM_003744.5:c.-233+13129_-233+13136del NM_003744.5:c.-233+13130_-233+13136del NM_003744.5:c.-233+13131_-233+13136del NM_003744.5:c.-233+13132_-233+13136del NM_003744.5:c.-233+13133_-233+13136del NM_003744.5:c.-233+13134_-233+13136del NM_003744.5:c.-233+13135_-233+13136del NM_003744.5:c.-233+13136del NM_003744.5:c.-233+13136dup NM_003744.5:c.-233+13135_-233+13136dup NM_003744.5:c.-233+13134_-233+13136dup NM_003744.5:c.-233+13133_-233+13136dup NM_003744.5:c.-233+13132_-233+13136dup NM_003744.5:c.-233+13131_-233+13136dup NM_003744.5:c.-233+13130_-233+13136dup NM_003744.5:c.-233+13129_-233+13136dup NM_003744.5:c.-233+13128_-233+13136dup NM_003744.5:c.-233+13127_-233+13136dup NM_003744.5:c.-233+13126_-233+13136dup NM_003744.5:c.-233+13125_-233+13136dup NM_003744.5:c.-233+13124_-233+13136dup NM_003744.5:c.-233+13123_-233+13136dup NM_003744.5:c.-233+13122_-233+13136dup NM_003744.5:c.-233+13121_-233+13136dup NM_003744.5:c.-233+13120_-233+13136dup NM_003744.5:c.-233+13119_-233+13136dup NM_003744.5:c.-233+13118_-233+13136dup NM_003744.5:c.-233+13117_-233+13136dup NM_003744.5:c.-233+13116_-233+13136dup NM_003744.5:c.-233+13115_-233+13136dup NM_003744.5:c.-233+13114_-233+13136dup NM_003744.5:c.-233+13113_-233+13136dup NM_003744.5:c.-233+13112_-233+13136dup NM_003744.5:c.-233+13110_-233+13136dup NM_003744.5:c.-233+13109_-233+13136dup NM_003744.5:c.-233+13108_-233+13136dup NM_003744.5:c.-233+13107_-233+13136dup NM_003744.5:c.-233+13106_-233+13136dup NM_003744.5:c.-233+13105_-233+13136dup
NUMB transcript variant 3 NM_003744.6:c.-233+13138= NM_003744.6:c.-233+13109_-233+13138del NM_003744.6:c.-233+13111_-233+13138del NM_003744.6:c.-233+13112_-233+13138del NM_003744.6:c.-233+13113_-233+13138del NM_003744.6:c.-233+13114_-233+13138del NM_003744.6:c.-233+13115_-233+13138del NM_003744.6:c.-233+13116_-233+13138del NM_003744.6:c.-233+13117_-233+13138del NM_003744.6:c.-233+13118_-233+13138del NM_003744.6:c.-233+13119_-233+13138del NM_003744.6:c.-233+13120_-233+13138del NM_003744.6:c.-233+13121_-233+13138del NM_003744.6:c.-233+13122_-233+13138del NM_003744.6:c.-233+13123_-233+13138del NM_003744.6:c.-233+13124_-233+13138del NM_003744.6:c.-233+13125_-233+13138del NM_003744.6:c.-233+13126_-233+13138del NM_003744.6:c.-233+13127_-233+13138del NM_003744.6:c.-233+13128_-233+13138del NM_003744.6:c.-233+13129_-233+13138del NM_003744.6:c.-233+13130_-233+13138del NM_003744.6:c.-233+13131_-233+13138del NM_003744.6:c.-233+13132_-233+13138del NM_003744.6:c.-233+13133_-233+13138del NM_003744.6:c.-233+13134_-233+13138del NM_003744.6:c.-233+13135_-233+13138del NM_003744.6:c.-233+13136_-233+13138del NM_003744.6:c.-233+13137_-233+13138del NM_003744.6:c.-233+13138del NM_003744.6:c.-233+13138dup NM_003744.6:c.-233+13137_-233+13138dup NM_003744.6:c.-233+13136_-233+13138dup NM_003744.6:c.-233+13135_-233+13138dup NM_003744.6:c.-233+13134_-233+13138dup NM_003744.6:c.-233+13133_-233+13138dup NM_003744.6:c.-233+13132_-233+13138dup NM_003744.6:c.-233+13131_-233+13138dup NM_003744.6:c.-233+13130_-233+13138dup NM_003744.6:c.-233+13129_-233+13138dup NM_003744.6:c.-233+13128_-233+13138dup NM_003744.6:c.-233+13127_-233+13138dup NM_003744.6:c.-233+13126_-233+13138dup NM_003744.6:c.-233+13125_-233+13138dup NM_003744.6:c.-233+13124_-233+13138dup NM_003744.6:c.-233+13123_-233+13138dup NM_003744.6:c.-233+13122_-233+13138dup NM_003744.6:c.-233+13121_-233+13138dup NM_003744.6:c.-233+13120_-233+13138dup NM_003744.6:c.-233+13119_-233+13138dup NM_003744.6:c.-233+13118_-233+13138dup NM_003744.6:c.-233+13117_-233+13138dup NM_003744.6:c.-233+13116_-233+13138dup NM_003744.6:c.-233+13115_-233+13138dup NM_003744.6:c.-233+13114_-233+13138dup NM_003744.6:c.-233+13112_-233+13138dup NM_003744.6:c.-233+13111_-233+13138dup NM_003744.6:c.-233+13110_-233+13138dup NM_003744.6:c.-233+13109_-233+13138dup NM_003744.6:c.-233+13108_-233+13138dup NM_003744.6:c.-233+13107_-233+13138dup
NUMB transcript variant X3 XM_005268142.1:c.-148+13136= XM_005268142.1:c.-148+13107_-148+13136del XM_005268142.1:c.-148+13109_-148+13136del XM_005268142.1:c.-148+13110_-148+13136del XM_005268142.1:c.-148+13111_-148+13136del XM_005268142.1:c.-148+13112_-148+13136del XM_005268142.1:c.-148+13113_-148+13136del XM_005268142.1:c.-148+13114_-148+13136del XM_005268142.1:c.-148+13115_-148+13136del XM_005268142.1:c.-148+13116_-148+13136del XM_005268142.1:c.-148+13117_-148+13136del XM_005268142.1:c.-148+13118_-148+13136del XM_005268142.1:c.-148+13119_-148+13136del XM_005268142.1:c.-148+13120_-148+13136del XM_005268142.1:c.-148+13121_-148+13136del XM_005268142.1:c.-148+13122_-148+13136del XM_005268142.1:c.-148+13123_-148+13136del XM_005268142.1:c.-148+13124_-148+13136del XM_005268142.1:c.-148+13125_-148+13136del XM_005268142.1:c.-148+13126_-148+13136del XM_005268142.1:c.-148+13127_-148+13136del XM_005268142.1:c.-148+13128_-148+13136del XM_005268142.1:c.-148+13129_-148+13136del XM_005268142.1:c.-148+13130_-148+13136del XM_005268142.1:c.-148+13131_-148+13136del XM_005268142.1:c.-148+13132_-148+13136del XM_005268142.1:c.-148+13133_-148+13136del XM_005268142.1:c.-148+13134_-148+13136del XM_005268142.1:c.-148+13135_-148+13136del XM_005268142.1:c.-148+13136del XM_005268142.1:c.-148+13136dup XM_005268142.1:c.-148+13135_-148+13136dup XM_005268142.1:c.-148+13134_-148+13136dup XM_005268142.1:c.-148+13133_-148+13136dup XM_005268142.1:c.-148+13132_-148+13136dup XM_005268142.1:c.-148+13131_-148+13136dup XM_005268142.1:c.-148+13130_-148+13136dup XM_005268142.1:c.-148+13129_-148+13136dup XM_005268142.1:c.-148+13128_-148+13136dup XM_005268142.1:c.-148+13127_-148+13136dup XM_005268142.1:c.-148+13126_-148+13136dup XM_005268142.1:c.-148+13125_-148+13136dup XM_005268142.1:c.-148+13124_-148+13136dup XM_005268142.1:c.-148+13123_-148+13136dup XM_005268142.1:c.-148+13122_-148+13136dup XM_005268142.1:c.-148+13121_-148+13136dup XM_005268142.1:c.-148+13120_-148+13136dup XM_005268142.1:c.-148+13119_-148+13136dup XM_005268142.1:c.-148+13118_-148+13136dup XM_005268142.1:c.-148+13117_-148+13136dup XM_005268142.1:c.-148+13116_-148+13136dup XM_005268142.1:c.-148+13115_-148+13136dup XM_005268142.1:c.-148+13114_-148+13136dup XM_005268142.1:c.-148+13113_-148+13136dup XM_005268142.1:c.-148+13112_-148+13136dup XM_005268142.1:c.-148+13110_-148+13136dup XM_005268142.1:c.-148+13109_-148+13136dup XM_005268142.1:c.-148+13108_-148+13136dup XM_005268142.1:c.-148+13107_-148+13136dup XM_005268142.1:c.-148+13106_-148+13136dup XM_005268142.1:c.-148+13105_-148+13136dup
NUMB transcript variant X5 XM_005268144.1:c.-148+13136= XM_005268144.1:c.-148+13107_-148+13136del XM_005268144.1:c.-148+13109_-148+13136del XM_005268144.1:c.-148+13110_-148+13136del XM_005268144.1:c.-148+13111_-148+13136del XM_005268144.1:c.-148+13112_-148+13136del XM_005268144.1:c.-148+13113_-148+13136del XM_005268144.1:c.-148+13114_-148+13136del XM_005268144.1:c.-148+13115_-148+13136del XM_005268144.1:c.-148+13116_-148+13136del XM_005268144.1:c.-148+13117_-148+13136del XM_005268144.1:c.-148+13118_-148+13136del XM_005268144.1:c.-148+13119_-148+13136del XM_005268144.1:c.-148+13120_-148+13136del XM_005268144.1:c.-148+13121_-148+13136del XM_005268144.1:c.-148+13122_-148+13136del XM_005268144.1:c.-148+13123_-148+13136del XM_005268144.1:c.-148+13124_-148+13136del XM_005268144.1:c.-148+13125_-148+13136del XM_005268144.1:c.-148+13126_-148+13136del XM_005268144.1:c.-148+13127_-148+13136del XM_005268144.1:c.-148+13128_-148+13136del XM_005268144.1:c.-148+13129_-148+13136del XM_005268144.1:c.-148+13130_-148+13136del XM_005268144.1:c.-148+13131_-148+13136del XM_005268144.1:c.-148+13132_-148+13136del XM_005268144.1:c.-148+13133_-148+13136del XM_005268144.1:c.-148+13134_-148+13136del XM_005268144.1:c.-148+13135_-148+13136del XM_005268144.1:c.-148+13136del XM_005268144.1:c.-148+13136dup XM_005268144.1:c.-148+13135_-148+13136dup XM_005268144.1:c.-148+13134_-148+13136dup XM_005268144.1:c.-148+13133_-148+13136dup XM_005268144.1:c.-148+13132_-148+13136dup XM_005268144.1:c.-148+13131_-148+13136dup XM_005268144.1:c.-148+13130_-148+13136dup XM_005268144.1:c.-148+13129_-148+13136dup XM_005268144.1:c.-148+13128_-148+13136dup XM_005268144.1:c.-148+13127_-148+13136dup XM_005268144.1:c.-148+13126_-148+13136dup XM_005268144.1:c.-148+13125_-148+13136dup XM_005268144.1:c.-148+13124_-148+13136dup XM_005268144.1:c.-148+13123_-148+13136dup XM_005268144.1:c.-148+13122_-148+13136dup XM_005268144.1:c.-148+13121_-148+13136dup XM_005268144.1:c.-148+13120_-148+13136dup XM_005268144.1:c.-148+13119_-148+13136dup XM_005268144.1:c.-148+13118_-148+13136dup XM_005268144.1:c.-148+13117_-148+13136dup XM_005268144.1:c.-148+13116_-148+13136dup XM_005268144.1:c.-148+13115_-148+13136dup XM_005268144.1:c.-148+13114_-148+13136dup XM_005268144.1:c.-148+13113_-148+13136dup XM_005268144.1:c.-148+13112_-148+13136dup XM_005268144.1:c.-148+13110_-148+13136dup XM_005268144.1:c.-148+13109_-148+13136dup XM_005268144.1:c.-148+13108_-148+13136dup XM_005268144.1:c.-148+13107_-148+13136dup XM_005268144.1:c.-148+13106_-148+13136dup XM_005268144.1:c.-148+13105_-148+13136dup
NUMB transcript variant X6 XM_005268145.1:c.-148+13136= XM_005268145.1:c.-148+13107_-148+13136del XM_005268145.1:c.-148+13109_-148+13136del XM_005268145.1:c.-148+13110_-148+13136del XM_005268145.1:c.-148+13111_-148+13136del XM_005268145.1:c.-148+13112_-148+13136del XM_005268145.1:c.-148+13113_-148+13136del XM_005268145.1:c.-148+13114_-148+13136del XM_005268145.1:c.-148+13115_-148+13136del XM_005268145.1:c.-148+13116_-148+13136del XM_005268145.1:c.-148+13117_-148+13136del XM_005268145.1:c.-148+13118_-148+13136del XM_005268145.1:c.-148+13119_-148+13136del XM_005268145.1:c.-148+13120_-148+13136del XM_005268145.1:c.-148+13121_-148+13136del XM_005268145.1:c.-148+13122_-148+13136del XM_005268145.1:c.-148+13123_-148+13136del XM_005268145.1:c.-148+13124_-148+13136del XM_005268145.1:c.-148+13125_-148+13136del XM_005268145.1:c.-148+13126_-148+13136del XM_005268145.1:c.-148+13127_-148+13136del XM_005268145.1:c.-148+13128_-148+13136del XM_005268145.1:c.-148+13129_-148+13136del XM_005268145.1:c.-148+13130_-148+13136del XM_005268145.1:c.-148+13131_-148+13136del XM_005268145.1:c.-148+13132_-148+13136del XM_005268145.1:c.-148+13133_-148+13136del XM_005268145.1:c.-148+13134_-148+13136del XM_005268145.1:c.-148+13135_-148+13136del XM_005268145.1:c.-148+13136del XM_005268145.1:c.-148+13136dup XM_005268145.1:c.-148+13135_-148+13136dup XM_005268145.1:c.-148+13134_-148+13136dup XM_005268145.1:c.-148+13133_-148+13136dup XM_005268145.1:c.-148+13132_-148+13136dup XM_005268145.1:c.-148+13131_-148+13136dup XM_005268145.1:c.-148+13130_-148+13136dup XM_005268145.1:c.-148+13129_-148+13136dup XM_005268145.1:c.-148+13128_-148+13136dup XM_005268145.1:c.-148+13127_-148+13136dup XM_005268145.1:c.-148+13126_-148+13136dup XM_005268145.1:c.-148+13125_-148+13136dup XM_005268145.1:c.-148+13124_-148+13136dup XM_005268145.1:c.-148+13123_-148+13136dup XM_005268145.1:c.-148+13122_-148+13136dup XM_005268145.1:c.-148+13121_-148+13136dup XM_005268145.1:c.-148+13120_-148+13136dup XM_005268145.1:c.-148+13119_-148+13136dup XM_005268145.1:c.-148+13118_-148+13136dup XM_005268145.1:c.-148+13117_-148+13136dup XM_005268145.1:c.-148+13116_-148+13136dup XM_005268145.1:c.-148+13115_-148+13136dup XM_005268145.1:c.-148+13114_-148+13136dup XM_005268145.1:c.-148+13113_-148+13136dup XM_005268145.1:c.-148+13112_-148+13136dup XM_005268145.1:c.-148+13110_-148+13136dup XM_005268145.1:c.-148+13109_-148+13136dup XM_005268145.1:c.-148+13108_-148+13136dup XM_005268145.1:c.-148+13107_-148+13136dup XM_005268145.1:c.-148+13106_-148+13136dup XM_005268145.1:c.-148+13105_-148+13136dup
NUMB transcript variant X7 XM_005268146.1:c.-148+13136= XM_005268146.1:c.-148+13107_-148+13136del XM_005268146.1:c.-148+13109_-148+13136del XM_005268146.1:c.-148+13110_-148+13136del XM_005268146.1:c.-148+13111_-148+13136del XM_005268146.1:c.-148+13112_-148+13136del XM_005268146.1:c.-148+13113_-148+13136del XM_005268146.1:c.-148+13114_-148+13136del XM_005268146.1:c.-148+13115_-148+13136del XM_005268146.1:c.-148+13116_-148+13136del XM_005268146.1:c.-148+13117_-148+13136del XM_005268146.1:c.-148+13118_-148+13136del XM_005268146.1:c.-148+13119_-148+13136del XM_005268146.1:c.-148+13120_-148+13136del XM_005268146.1:c.-148+13121_-148+13136del XM_005268146.1:c.-148+13122_-148+13136del XM_005268146.1:c.-148+13123_-148+13136del XM_005268146.1:c.-148+13124_-148+13136del XM_005268146.1:c.-148+13125_-148+13136del XM_005268146.1:c.-148+13126_-148+13136del XM_005268146.1:c.-148+13127_-148+13136del XM_005268146.1:c.-148+13128_-148+13136del XM_005268146.1:c.-148+13129_-148+13136del XM_005268146.1:c.-148+13130_-148+13136del XM_005268146.1:c.-148+13131_-148+13136del XM_005268146.1:c.-148+13132_-148+13136del XM_005268146.1:c.-148+13133_-148+13136del XM_005268146.1:c.-148+13134_-148+13136del XM_005268146.1:c.-148+13135_-148+13136del XM_005268146.1:c.-148+13136del XM_005268146.1:c.-148+13136dup XM_005268146.1:c.-148+13135_-148+13136dup XM_005268146.1:c.-148+13134_-148+13136dup XM_005268146.1:c.-148+13133_-148+13136dup XM_005268146.1:c.-148+13132_-148+13136dup XM_005268146.1:c.-148+13131_-148+13136dup XM_005268146.1:c.-148+13130_-148+13136dup XM_005268146.1:c.-148+13129_-148+13136dup XM_005268146.1:c.-148+13128_-148+13136dup XM_005268146.1:c.-148+13127_-148+13136dup XM_005268146.1:c.-148+13126_-148+13136dup XM_005268146.1:c.-148+13125_-148+13136dup XM_005268146.1:c.-148+13124_-148+13136dup XM_005268146.1:c.-148+13123_-148+13136dup XM_005268146.1:c.-148+13122_-148+13136dup XM_005268146.1:c.-148+13121_-148+13136dup XM_005268146.1:c.-148+13120_-148+13136dup XM_005268146.1:c.-148+13119_-148+13136dup XM_005268146.1:c.-148+13118_-148+13136dup XM_005268146.1:c.-148+13117_-148+13136dup XM_005268146.1:c.-148+13116_-148+13136dup XM_005268146.1:c.-148+13115_-148+13136dup XM_005268146.1:c.-148+13114_-148+13136dup XM_005268146.1:c.-148+13113_-148+13136dup XM_005268146.1:c.-148+13112_-148+13136dup XM_005268146.1:c.-148+13110_-148+13136dup XM_005268146.1:c.-148+13109_-148+13136dup XM_005268146.1:c.-148+13108_-148+13136dup XM_005268146.1:c.-148+13107_-148+13136dup XM_005268146.1:c.-148+13106_-148+13136dup XM_005268146.1:c.-148+13105_-148+13136dup
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

90 SubSNP, 77 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95645295 Mar 15, 2016 (147)
2 HUMANGENOME_JCVI ss96893125 Mar 15, 2016 (147)
3 SSMP ss664242080 Apr 01, 2015 (144)
4 EVA_UK10K_ALSPAC ss1708117353 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1708117432 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1710643316 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1710643318 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1710643331 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1710643333 Apr 01, 2015 (144)
10 SWEGEN ss3012448987 Nov 08, 2017 (151)
11 EVA_DECODE ss3696978789 Jul 13, 2019 (153)
12 EVA_DECODE ss3696978790 Jul 13, 2019 (153)
13 EVA_DECODE ss3696978791 Jul 13, 2019 (153)
14 EVA_DECODE ss3696978792 Jul 13, 2019 (153)
15 EVA_DECODE ss3696978793 Jul 13, 2019 (153)
16 PACBIO ss3792738773 Jul 13, 2019 (153)
17 PACBIO ss3792738774 Jul 13, 2019 (153)
18 PACBIO ss3797623110 Jul 13, 2019 (153)
19 PACBIO ss3797623111 Jul 13, 2019 (153)
20 EVA ss3833997716 Apr 27, 2020 (154)
21 KOGIC ss3975232251 Apr 27, 2020 (154)
22 KOGIC ss3975232252 Apr 27, 2020 (154)
23 KOGIC ss3975232253 Apr 27, 2020 (154)
24 KOGIC ss3975232254 Apr 27, 2020 (154)
25 KOGIC ss3975232255 Apr 27, 2020 (154)
26 KOGIC ss3975232256 Apr 27, 2020 (154)
27 GNOMAD ss4280668602 Apr 26, 2021 (155)
28 GNOMAD ss4280668603 Apr 26, 2021 (155)
29 GNOMAD ss4280668604 Apr 26, 2021 (155)
30 GNOMAD ss4280668605 Apr 26, 2021 (155)
31 GNOMAD ss4280668606 Apr 26, 2021 (155)
32 GNOMAD ss4280668607 Apr 26, 2021 (155)
33 GNOMAD ss4280668608 Apr 26, 2021 (155)
34 GNOMAD ss4280668609 Apr 26, 2021 (155)
35 GNOMAD ss4280668610 Apr 26, 2021 (155)
36 GNOMAD ss4280668611 Apr 26, 2021 (155)
37 GNOMAD ss4280668612 Apr 26, 2021 (155)
38 GNOMAD ss4280668613 Apr 26, 2021 (155)
39 GNOMAD ss4280668614 Apr 26, 2021 (155)
40 GNOMAD ss4280668615 Apr 26, 2021 (155)
41 GNOMAD ss4280668616 Apr 26, 2021 (155)
42 GNOMAD ss4280668617 Apr 26, 2021 (155)
43 GNOMAD ss4280668618 Apr 26, 2021 (155)
44 GNOMAD ss4280668619 Apr 26, 2021 (155)
45 GNOMAD ss4280668620 Apr 26, 2021 (155)
46 GNOMAD ss4280668621 Apr 26, 2021 (155)
47 GNOMAD ss4280668622 Apr 26, 2021 (155)
48 GNOMAD ss4280668623 Apr 26, 2021 (155)
49 GNOMAD ss4280668624 Apr 26, 2021 (155)
50 GNOMAD ss4280668625 Apr 26, 2021 (155)
51 GNOMAD ss4280668626 Apr 26, 2021 (155)
52 GNOMAD ss4280668627 Apr 26, 2021 (155)
53 GNOMAD ss4280668628 Apr 26, 2021 (155)
54 GNOMAD ss4280668629 Apr 26, 2021 (155)
55 GNOMAD ss4280668630 Apr 26, 2021 (155)
56 GNOMAD ss4280668631 Apr 26, 2021 (155)
57 GNOMAD ss4280668632 Apr 26, 2021 (155)
58 GNOMAD ss4280668633 Apr 26, 2021 (155)
59 GNOMAD ss4280668634 Apr 26, 2021 (155)
60 GNOMAD ss4280668635 Apr 26, 2021 (155)
61 GNOMAD ss4280668636 Apr 26, 2021 (155)
62 GNOMAD ss4280668637 Apr 26, 2021 (155)
63 GNOMAD ss4280668638 Apr 26, 2021 (155)
64 GNOMAD ss4280668639 Apr 26, 2021 (155)
65 GNOMAD ss4280668640 Apr 26, 2021 (155)
66 GNOMAD ss4280668641 Apr 26, 2021 (155)
67 GNOMAD ss4280668642 Apr 26, 2021 (155)
68 GNOMAD ss4280668643 Apr 26, 2021 (155)
69 GNOMAD ss4280668644 Apr 26, 2021 (155)
70 GNOMAD ss4280668645 Apr 26, 2021 (155)
71 GNOMAD ss4280668646 Apr 26, 2021 (155)
72 GNOMAD ss4280668647 Apr 26, 2021 (155)
73 GNOMAD ss4280668648 Apr 26, 2021 (155)
74 GNOMAD ss4280668649 Apr 26, 2021 (155)
75 GNOMAD ss4280668650 Apr 26, 2021 (155)
76 GNOMAD ss4280668651 Apr 26, 2021 (155)
77 GNOMAD ss4280668652 Apr 26, 2021 (155)
78 GNOMAD ss4280668653 Apr 26, 2021 (155)
79 GNOMAD ss4280668654 Apr 26, 2021 (155)
80 GNOMAD ss4280668655 Apr 26, 2021 (155)
81 GNOMAD ss4280668656 Apr 26, 2021 (155)
82 GNOMAD ss4280668657 Apr 26, 2021 (155)
83 GNOMAD ss4280668658 Apr 26, 2021 (155)
84 GNOMAD ss4280668659 Apr 26, 2021 (155)
85 TOMMO_GENOMICS ss5766919080 Oct 16, 2022 (156)
86 TOMMO_GENOMICS ss5766919081 Oct 16, 2022 (156)
87 TOMMO_GENOMICS ss5766919082 Oct 16, 2022 (156)
88 TOMMO_GENOMICS ss5766919083 Oct 16, 2022 (156)
89 TOMMO_GENOMICS ss5766919084 Oct 16, 2022 (156)
90 TOMMO_GENOMICS ss5766919085 Oct 16, 2022 (156)
91 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 35904977 (NC_000014.8:73912063:AAAAAAAAA: 2162/3854)
Row 35904978 (NC_000014.8:73912062:AAAAAAAAAAA: 784/3854)
Row 35904979 (NC_000014.8:73912064:AAAAAAA: 377/3854)

- Oct 12, 2018 (152)
92 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 35904977 (NC_000014.8:73912063:AAAAAAAAA: 2162/3854)
Row 35904978 (NC_000014.8:73912062:AAAAAAAAAAA: 784/3854)
Row 35904979 (NC_000014.8:73912064:AAAAAAA: 377/3854)

- Oct 12, 2018 (152)
93 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 35904977 (NC_000014.8:73912063:AAAAAAAAA: 2162/3854)
Row 35904978 (NC_000014.8:73912062:AAAAAAAAAAA: 784/3854)
Row 35904979 (NC_000014.8:73912064:AAAAAAA: 377/3854)

- Oct 12, 2018 (152)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
104 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
105 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
106 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
107 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
108 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
109 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
111 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
112 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
113 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
114 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
115 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
116 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
117 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
118 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
119 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
120 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
121 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
122 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
123 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
124 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
125 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
126 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
127 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
128 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
129 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
130 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
131 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
132 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
133 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
134 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
135 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
136 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
137 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
138 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
139 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
140 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
141 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
142 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
143 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
144 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
145 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
146 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
147 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
148 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
149 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
150 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
151 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 455567931 (NC_000014.9:73445354::A 136/54174)
Row 455567932 (NC_000014.9:73445354::AA 147/54174)
Row 455567933 (NC_000014.9:73445354::AAA 206/54152)...

- Apr 26, 2021 (155)
152 Korean Genome Project

Submission ignored due to conflicting rows:
Row 31610252 (NC_000014.9:73445356:AAAAAAAAAAAAAAAAAAAAAA: 17/1500)
Row 31610253 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 38/1500)
Row 31610254 (NC_000014.9:73445361:AAAAAAAAAAAAAAAAA: 16/1500)...

- Apr 27, 2020 (154)
153 Korean Genome Project

Submission ignored due to conflicting rows:
Row 31610252 (NC_000014.9:73445356:AAAAAAAAAAAAAAAAAAAAAA: 17/1500)
Row 31610253 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 38/1500)
Row 31610254 (NC_000014.9:73445361:AAAAAAAAAAAAAAAAA: 16/1500)...

- Apr 27, 2020 (154)
154 Korean Genome Project

Submission ignored due to conflicting rows:
Row 31610252 (NC_000014.9:73445356:AAAAAAAAAAAAAAAAAAAAAA: 17/1500)
Row 31610253 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 38/1500)
Row 31610254 (NC_000014.9:73445361:AAAAAAAAAAAAAAAAA: 16/1500)...

- Apr 27, 2020 (154)
155 Korean Genome Project

Submission ignored due to conflicting rows:
Row 31610252 (NC_000014.9:73445356:AAAAAAAAAAAAAAAAAAAAAA: 17/1500)
Row 31610253 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 38/1500)
Row 31610254 (NC_000014.9:73445361:AAAAAAAAAAAAAAAAA: 16/1500)...

- Apr 27, 2020 (154)
156 Korean Genome Project

Submission ignored due to conflicting rows:
Row 31610252 (NC_000014.9:73445356:AAAAAAAAAAAAAAAAAAAAAA: 17/1500)
Row 31610253 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 38/1500)
Row 31610254 (NC_000014.9:73445361:AAAAAAAAAAAAAAAAA: 16/1500)...

- Apr 27, 2020 (154)
157 Korean Genome Project

Submission ignored due to conflicting rows:
Row 31610252 (NC_000014.9:73445356:AAAAAAAAAAAAAAAAAAAAAA: 17/1500)
Row 31610253 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 38/1500)
Row 31610254 (NC_000014.9:73445361:AAAAAAAAAAAAAAAAA: 16/1500)...

- Apr 27, 2020 (154)
158 14KJPN

Submission ignored due to conflicting rows:
Row 100756184 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 626/20856)
Row 100756185 (NC_000014.9:73445354:AAAAAAAAAA: 728/20856)
Row 100756186 (NC_000014.9:73445354:AAAAAAAAA: 327/20856)...

- Oct 16, 2022 (156)
159 14KJPN

Submission ignored due to conflicting rows:
Row 100756184 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 626/20856)
Row 100756185 (NC_000014.9:73445354:AAAAAAAAAA: 728/20856)
Row 100756186 (NC_000014.9:73445354:AAAAAAAAA: 327/20856)...

- Oct 16, 2022 (156)
160 14KJPN

Submission ignored due to conflicting rows:
Row 100756184 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 626/20856)
Row 100756185 (NC_000014.9:73445354:AAAAAAAAAA: 728/20856)
Row 100756186 (NC_000014.9:73445354:AAAAAAAAA: 327/20856)...

- Oct 16, 2022 (156)
161 14KJPN

Submission ignored due to conflicting rows:
Row 100756184 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 626/20856)
Row 100756185 (NC_000014.9:73445354:AAAAAAAAAA: 728/20856)
Row 100756186 (NC_000014.9:73445354:AAAAAAAAA: 327/20856)...

- Oct 16, 2022 (156)
162 14KJPN

Submission ignored due to conflicting rows:
Row 100756184 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 626/20856)
Row 100756185 (NC_000014.9:73445354:AAAAAAAAAA: 728/20856)
Row 100756186 (NC_000014.9:73445354:AAAAAAAAA: 327/20856)...

- Oct 16, 2022 (156)
163 14KJPN

Submission ignored due to conflicting rows:
Row 100756184 (NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA: 626/20856)
Row 100756185 (NC_000014.9:73445354:AAAAAAAAAA: 728/20856)
Row 100756186 (NC_000014.9:73445354:AAAAAAAAA: 327/20856)...

- Oct 16, 2022 (156)
164 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 35904977 (NC_000014.8:73912063:AAAAAAAAA: 2109/3708)
Row 35904978 (NC_000014.8:73912062:AAAAAAAAAAA: 766/3708)
Row 35904979 (NC_000014.8:73912064:AAAAAAA: 329/3708)

- Oct 12, 2018 (152)
165 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 35904977 (NC_000014.8:73912063:AAAAAAAAA: 2109/3708)
Row 35904978 (NC_000014.8:73912062:AAAAAAAAAAA: 766/3708)
Row 35904979 (NC_000014.8:73912064:AAAAAAA: 329/3708)

- Oct 12, 2018 (152)
166 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 35904977 (NC_000014.8:73912063:AAAAAAAAA: 2109/3708)
Row 35904978 (NC_000014.8:73912062:AAAAAAAAAAA: 766/3708)
Row 35904979 (NC_000014.8:73912064:AAAAAAA: 329/3708)

- Oct 12, 2018 (152)
167 ALFA NC_000014.9 - 73445355 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs66603151 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4280668659 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4280668658 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4280668657 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAA:

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4280668656 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAA:

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4280668655 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAA:

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3012448987 NC_000014.8:73912062:AAAAAAAAAAAAA…

NC_000014.8:73912062:AAAAAAAAAAAAAAAAAAAAAAAA:

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3975232252, ss4280668654, ss5766919080 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAA:

NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4280668640, ss5766919081 NC_000014.9:73445354:AAAAAAAAAA: NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
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(self)
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(self)
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(self)
NC_000014.8:73912063:AAAAAAAAA: NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
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(self)
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(self)
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(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss4280668636 NC_000014.9:73445354:AAAAAA: NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss4280668635 NC_000014.9:73445354:AAAAA: NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss3792738773, ss3797623110 NC_000014.8:73912062:AAAA: NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss5766919085 NC_000014.9:73445354:AAAA: NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4280668634, ss5766919084 NC_000014.9:73445354:AAA: NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss3792738774, ss3797623111 NC_000014.8:73912062:AA: NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4280668602 NC_000014.9:73445354::A NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss3696978789 NC_000014.9:73445370::A NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4280668603 NC_000014.9:73445354::AA NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss4280668604 NC_000014.9:73445354::AAA NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss4280668605 NC_000014.9:73445354::AAAA NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss96893125 NT_026437.12:54912103:A:AAAAA NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4280668606 NC_000014.9:73445354::AAAAA NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8645536430 NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss4280668609 NC_000014.9:73445354::AAAAAAAA NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
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NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4280668612 NC_000014.9:73445354::AAAAAAAAAAA NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
ss4280668613 NC_000014.9:73445354::AAAAAAAAAAAA NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4280668614 NC_000014.9:73445354::AAAAAAAAAAAAA NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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NT_026437.12:54912103:A:AAAAAAAAAAAAAA

NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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(self)
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(self)
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(self)
ss4280668625 NC_000014.9:73445354::AAAAAAAAAAAA…

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(self)
ss4280668626 NC_000014.9:73445354::AAAAAAAAAAAA…

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(self)
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(self)
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(self)
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(self)
ss4280668630 NC_000014.9:73445354::AAAAAAAAAAAA…

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NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
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(self)
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NC_000014.9:73445354:AAAAAAAAAAAAA…

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(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3215148521 NC_000014.9:73445354:AA: NC_000014.9:73445354:AAAAAAAAAAAAA…

NC_000014.9:73445354:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs752154048

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d