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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.

rs56677445

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:144887253-144887280 (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)24 / del(A)21 / del(A)17 / d…

del(A)24 / del(A)21 / 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)25

Variation Type
Indel Insertion and Deletion
Frequency
del(A)10=0.3381 (1693/5008, 1000G)
del(A)24=0.0000 (0/2028, ALFA)
del(A)21=0.0000 (0/2028, ALFA) (+ 33 more)
del(A)17=0.0000 (0/2028, ALFA)
del(A)16=0.0000 (0/2028, ALFA)
del(A)15=0.0000 (0/2028, ALFA)
del(A)14=0.0000 (0/2028, ALFA)
del(A)13=0.0000 (0/2028, ALFA)
del(A)12=0.0000 (0/2028, ALFA)
del(A)11=0.0000 (0/2028, ALFA)
del(A)10=0.0000 (0/2028, ALFA)
del(A)9=0.0000 (0/2028, ALFA)
del(A)8=0.0000 (0/2028, ALFA)
del(A)7=0.0000 (0/2028, ALFA)
del(A)6=0.0000 (0/2028, ALFA)
del(A)5=0.0000 (0/2028, ALFA)
del(A)4=0.0000 (0/2028, ALFA)
delAAA=0.0000 (0/2028, ALFA)
delAA=0.0000 (0/2028, ALFA)
delA=0.0000 (0/2028, ALFA)
dupA=0.0000 (0/2028, ALFA)
dupAA=0.0000 (0/2028, ALFA)
dupAAA=0.0000 (0/2028, ALFA)
dup(A)4=0.0000 (0/2028, ALFA)
dup(A)5=0.0000 (0/2028, ALFA)
dup(A)6=0.0000 (0/2028, ALFA)
dup(A)7=0.0000 (0/2028, ALFA)
dup(A)8=0.0000 (0/2028, ALFA)
dup(A)9=0.0000 (0/2028, ALFA)
dup(A)10=0.0000 (0/2028, ALFA)
dup(A)11=0.0000 (0/2028, ALFA)
dup(A)12=0.0000 (0/2028, ALFA)
dup(A)14=0.0000 (0/2028, ALFA)
dup(A)15=0.0000 (0/2028, ALFA)
dup(A)16=0.0000 (0/2028, ALFA)
del(A)5=0.023 (13/568, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF250 : 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 2028 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAA=0.0000, AAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 1332 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAA=0.0000, AAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 514 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAA=0.000, AAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 18 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 496 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAA=0.000, AAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 14 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 8 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAA=0.0, AAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 6 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAA=0.0, AAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 30 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 40 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 18 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 80 AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAA=0.00, AAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=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, 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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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
1000Genomes Global Study-wide 5008 (A)28=0.6619 del(A)10=0.3381
1000Genomes African Sub 1322 (A)28=0.6165 del(A)10=0.3835
1000Genomes East Asian Sub 1008 (A)28=0.5893 del(A)10=0.4107
1000Genomes Europe Sub 1006 (A)28=0.7366 del(A)10=0.2634
1000Genomes South Asian Sub 978 (A)28=0.718 del(A)10=0.282
1000Genomes American Sub 694 (A)28=0.667 del(A)10=0.333
Allele Frequency Aggregator Total Global 2028 (A)28=1.0000 del(A)24=0.0000, del(A)21=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)5=0.0000, dup(A)6=0.0000, dup(A)7=0.0000, dup(A)8=0.0000, dup(A)9=0.0000, dup(A)10=0.0000, dup(A)11=0.0000, dup(A)12=0.0000, dup(A)14=0.0000, dup(A)15=0.0000, dup(A)16=0.0000
Allele Frequency Aggregator European Sub 1332 (A)28=1.0000 del(A)24=0.0000, del(A)21=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)5=0.0000, dup(A)6=0.0000, dup(A)7=0.0000, dup(A)8=0.0000, dup(A)9=0.0000, dup(A)10=0.0000, dup(A)11=0.0000, dup(A)12=0.0000, dup(A)14=0.0000, dup(A)15=0.0000, dup(A)16=0.0000
Allele Frequency Aggregator African Sub 514 (A)28=1.000 del(A)24=0.000, del(A)21=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)5=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)8=0.000, dup(A)9=0.000, dup(A)10=0.000, dup(A)11=0.000, dup(A)12=0.000, dup(A)14=0.000, dup(A)15=0.000, dup(A)16=0.000
Allele Frequency Aggregator Other Sub 80 (A)28=1.00 del(A)24=0.00, del(A)21=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)5=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00, dup(A)9=0.00, dup(A)10=0.00, dup(A)11=0.00, dup(A)12=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00
Allele Frequency Aggregator Latin American 2 Sub 40 (A)28=1.00 del(A)24=0.00, del(A)21=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)5=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00, dup(A)9=0.00, dup(A)10=0.00, dup(A)11=0.00, dup(A)12=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00
Allele Frequency Aggregator Latin American 1 Sub 30 (A)28=1.00 del(A)24=0.00, del(A)21=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)5=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00, dup(A)9=0.00, dup(A)10=0.00, dup(A)11=0.00, dup(A)12=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00
Allele Frequency Aggregator South Asian Sub 18 (A)28=1.00 del(A)24=0.00, del(A)21=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)5=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00, dup(A)9=0.00, dup(A)10=0.00, dup(A)11=0.00, dup(A)12=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00
Allele Frequency Aggregator Asian Sub 14 (A)28=1.00 del(A)24=0.00, del(A)21=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)5=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00, dup(A)9=0.00, dup(A)10=0.00, dup(A)11=0.00, dup(A)12=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00
Northern Sweden ACPOP Study-wide 568 (A)28=0.977 del(A)5=0.023
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 8 NC_000008.11:g.144887257_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887260_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887264_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887265_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887266_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887267_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887268_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887269_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887270_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887271_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887272_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887273_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887274_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887275_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887276_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887277_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887278_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887279_144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887280del
GRCh38.p14 chr 8 NC_000008.11:g.144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887279_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887278_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887277_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887276_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887275_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887274_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887273_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887272_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887271_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887270_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887269_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887268_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887267_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887266_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887265_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887264_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887263_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887262_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887261_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887260_144887280dup
GRCh38.p14 chr 8 NC_000008.11:g.144887256_144887280dup
GRCh37.p13 chr 8 NC_000008.10:g.146112642_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112645_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112649_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112650_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112651_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112652_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112653_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112654_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112655_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112656_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112657_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112658_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112659_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112660_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112661_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112662_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112663_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112664_146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112665del
GRCh37.p13 chr 8 NC_000008.10:g.146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112664_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112663_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112662_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112661_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112660_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112659_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112658_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112657_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112656_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112655_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112654_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112653_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112652_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112651_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112650_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112649_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112648_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112647_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112646_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112645_146112665dup
GRCh37.p13 chr 8 NC_000008.10:g.146112641_146112665dup
Gene: ZNF250, zinc finger protein 250 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF250 transcript variant 2 NM_001109689.4:c.284-374_…

NM_001109689.4:c.284-374_284-351del

N/A Intron Variant
ZNF250 transcript variant 3 NM_001363098.2:c.299-374_…

NM_001363098.2:c.299-374_299-351del

N/A Intron Variant
ZNF250 transcript variant 4 NM_001363099.2:c.299-374_…

NM_001363099.2:c.299-374_299-351del

N/A Intron Variant
ZNF250 transcript variant 5 NM_001363100.2:c.284-374_…

NM_001363100.2:c.284-374_284-351del

N/A Intron Variant
ZNF250 transcript variant 6 NM_001363101.2:c.284-374_…

NM_001363101.2:c.284-374_284-351del

N/A Intron Variant
ZNF250 transcript variant 7 NM_001363102.2:c.284-374_…

NM_001363102.2:c.284-374_284-351del

N/A Intron Variant
ZNF250 transcript variant 8 NM_001363103.2:c.284-374_…

NM_001363103.2:c.284-374_284-351del

N/A Intron Variant
ZNF250 transcript variant 9 NM_001363104.2:c.298+2305…

NM_001363104.2:c.298+2305_298+2328del

N/A Intron Variant
ZNF250 transcript variant 10 NM_001363105.2:c.283+2305…

NM_001363105.2:c.283+2305_283+2328del

N/A Intron Variant
ZNF250 transcript variant 11 NM_001363106.2:c.283+2305…

NM_001363106.2:c.283+2305_283+2328del

N/A Intron Variant
ZNF250 transcript variant 12 NM_001363107.2:c.283+2305…

NM_001363107.2:c.283+2305_283+2328del

N/A Intron Variant
ZNF250 transcript variant 1 NM_021061.5:c.299-374_299…

NM_021061.5:c.299-374_299-351del

N/A Intron Variant
ZNF250 transcript variant X1 XM_047422064.1:c.299-374_…

XM_047422064.1:c.299-374_299-351del

N/A Intron Variant
ZNF250 transcript variant X2 XM_047422065.1:c.283+2305…

XM_047422065.1:c.283+2305_283+2328del

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)28= del(A)24 del(A)21 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)25
GRCh38.p14 chr 8 NC_000008.11:g.144887253_144887280= NC_000008.11:g.144887257_144887280del NC_000008.11:g.144887260_144887280del NC_000008.11:g.144887264_144887280del NC_000008.11:g.144887265_144887280del NC_000008.11:g.144887266_144887280del NC_000008.11:g.144887267_144887280del NC_000008.11:g.144887268_144887280del NC_000008.11:g.144887269_144887280del NC_000008.11:g.144887270_144887280del NC_000008.11:g.144887271_144887280del NC_000008.11:g.144887272_144887280del NC_000008.11:g.144887273_144887280del NC_000008.11:g.144887274_144887280del NC_000008.11:g.144887275_144887280del NC_000008.11:g.144887276_144887280del NC_000008.11:g.144887277_144887280del NC_000008.11:g.144887278_144887280del NC_000008.11:g.144887279_144887280del NC_000008.11:g.144887280del NC_000008.11:g.144887280dup NC_000008.11:g.144887279_144887280dup NC_000008.11:g.144887278_144887280dup NC_000008.11:g.144887277_144887280dup NC_000008.11:g.144887276_144887280dup NC_000008.11:g.144887275_144887280dup NC_000008.11:g.144887274_144887280dup NC_000008.11:g.144887273_144887280dup NC_000008.11:g.144887272_144887280dup NC_000008.11:g.144887271_144887280dup NC_000008.11:g.144887270_144887280dup NC_000008.11:g.144887269_144887280dup NC_000008.11:g.144887268_144887280dup NC_000008.11:g.144887267_144887280dup NC_000008.11:g.144887266_144887280dup NC_000008.11:g.144887265_144887280dup NC_000008.11:g.144887264_144887280dup NC_000008.11:g.144887263_144887280dup NC_000008.11:g.144887262_144887280dup NC_000008.11:g.144887261_144887280dup NC_000008.11:g.144887260_144887280dup NC_000008.11:g.144887256_144887280dup
GRCh37.p13 chr 8 NC_000008.10:g.146112638_146112665= NC_000008.10:g.146112642_146112665del NC_000008.10:g.146112645_146112665del NC_000008.10:g.146112649_146112665del NC_000008.10:g.146112650_146112665del NC_000008.10:g.146112651_146112665del NC_000008.10:g.146112652_146112665del NC_000008.10:g.146112653_146112665del NC_000008.10:g.146112654_146112665del NC_000008.10:g.146112655_146112665del NC_000008.10:g.146112656_146112665del NC_000008.10:g.146112657_146112665del NC_000008.10:g.146112658_146112665del NC_000008.10:g.146112659_146112665del NC_000008.10:g.146112660_146112665del NC_000008.10:g.146112661_146112665del NC_000008.10:g.146112662_146112665del NC_000008.10:g.146112663_146112665del NC_000008.10:g.146112664_146112665del NC_000008.10:g.146112665del NC_000008.10:g.146112665dup NC_000008.10:g.146112664_146112665dup NC_000008.10:g.146112663_146112665dup NC_000008.10:g.146112662_146112665dup NC_000008.10:g.146112661_146112665dup NC_000008.10:g.146112660_146112665dup NC_000008.10:g.146112659_146112665dup NC_000008.10:g.146112658_146112665dup NC_000008.10:g.146112657_146112665dup NC_000008.10:g.146112656_146112665dup NC_000008.10:g.146112655_146112665dup NC_000008.10:g.146112654_146112665dup NC_000008.10:g.146112653_146112665dup NC_000008.10:g.146112652_146112665dup NC_000008.10:g.146112651_146112665dup NC_000008.10:g.146112650_146112665dup NC_000008.10:g.146112649_146112665dup NC_000008.10:g.146112648_146112665dup NC_000008.10:g.146112647_146112665dup NC_000008.10:g.146112646_146112665dup NC_000008.10:g.146112645_146112665dup NC_000008.10:g.146112641_146112665dup
ZNF250 transcript variant 2 NM_001109689.3:c.284-351= NM_001109689.3:c.284-374_284-351del NM_001109689.3:c.284-371_284-351del NM_001109689.3:c.284-367_284-351del NM_001109689.3:c.284-366_284-351del NM_001109689.3:c.284-365_284-351del NM_001109689.3:c.284-364_284-351del NM_001109689.3:c.284-363_284-351del NM_001109689.3:c.284-362_284-351del NM_001109689.3:c.284-361_284-351del NM_001109689.3:c.284-360_284-351del NM_001109689.3:c.284-359_284-351del NM_001109689.3:c.284-358_284-351del NM_001109689.3:c.284-357_284-351del NM_001109689.3:c.284-356_284-351del NM_001109689.3:c.284-355_284-351del NM_001109689.3:c.284-354_284-351del NM_001109689.3:c.284-353_284-351del NM_001109689.3:c.284-352_284-351del NM_001109689.3:c.284-351del NM_001109689.3:c.284-351dup NM_001109689.3:c.284-352_284-351dup NM_001109689.3:c.284-353_284-351dup NM_001109689.3:c.284-354_284-351dup NM_001109689.3:c.284-355_284-351dup NM_001109689.3:c.284-356_284-351dup NM_001109689.3:c.284-357_284-351dup NM_001109689.3:c.284-358_284-351dup NM_001109689.3:c.284-359_284-351dup NM_001109689.3:c.284-360_284-351dup NM_001109689.3:c.284-361_284-351dup NM_001109689.3:c.284-362_284-351dup NM_001109689.3:c.284-363_284-351dup NM_001109689.3:c.284-364_284-351dup NM_001109689.3:c.284-365_284-351dup NM_001109689.3:c.284-366_284-351dup NM_001109689.3:c.284-367_284-351dup NM_001109689.3:c.284-368_284-351dup NM_001109689.3:c.284-369_284-351dup NM_001109689.3:c.284-370_284-351dup NM_001109689.3:c.284-371_284-351dup NM_001109689.3:c.284-375_284-351dup
ZNF250 transcript variant 2 NM_001109689.4:c.284-351= NM_001109689.4:c.284-374_284-351del NM_001109689.4:c.284-371_284-351del NM_001109689.4:c.284-367_284-351del NM_001109689.4:c.284-366_284-351del NM_001109689.4:c.284-365_284-351del NM_001109689.4:c.284-364_284-351del NM_001109689.4:c.284-363_284-351del NM_001109689.4:c.284-362_284-351del NM_001109689.4:c.284-361_284-351del NM_001109689.4:c.284-360_284-351del NM_001109689.4:c.284-359_284-351del NM_001109689.4:c.284-358_284-351del NM_001109689.4:c.284-357_284-351del NM_001109689.4:c.284-356_284-351del NM_001109689.4:c.284-355_284-351del NM_001109689.4:c.284-354_284-351del NM_001109689.4:c.284-353_284-351del NM_001109689.4:c.284-352_284-351del NM_001109689.4:c.284-351del NM_001109689.4:c.284-351dup NM_001109689.4:c.284-352_284-351dup NM_001109689.4:c.284-353_284-351dup NM_001109689.4:c.284-354_284-351dup NM_001109689.4:c.284-355_284-351dup NM_001109689.4:c.284-356_284-351dup NM_001109689.4:c.284-357_284-351dup NM_001109689.4:c.284-358_284-351dup NM_001109689.4:c.284-359_284-351dup NM_001109689.4:c.284-360_284-351dup NM_001109689.4:c.284-361_284-351dup NM_001109689.4:c.284-362_284-351dup NM_001109689.4:c.284-363_284-351dup NM_001109689.4:c.284-364_284-351dup NM_001109689.4:c.284-365_284-351dup NM_001109689.4:c.284-366_284-351dup NM_001109689.4:c.284-367_284-351dup NM_001109689.4:c.284-368_284-351dup NM_001109689.4:c.284-369_284-351dup NM_001109689.4:c.284-370_284-351dup NM_001109689.4:c.284-371_284-351dup NM_001109689.4:c.284-375_284-351dup
ZNF250 transcript variant 3 NM_001363098.2:c.299-351= NM_001363098.2:c.299-374_299-351del NM_001363098.2:c.299-371_299-351del NM_001363098.2:c.299-367_299-351del NM_001363098.2:c.299-366_299-351del NM_001363098.2:c.299-365_299-351del NM_001363098.2:c.299-364_299-351del NM_001363098.2:c.299-363_299-351del NM_001363098.2:c.299-362_299-351del NM_001363098.2:c.299-361_299-351del NM_001363098.2:c.299-360_299-351del NM_001363098.2:c.299-359_299-351del NM_001363098.2:c.299-358_299-351del NM_001363098.2:c.299-357_299-351del NM_001363098.2:c.299-356_299-351del NM_001363098.2:c.299-355_299-351del NM_001363098.2:c.299-354_299-351del NM_001363098.2:c.299-353_299-351del NM_001363098.2:c.299-352_299-351del NM_001363098.2:c.299-351del NM_001363098.2:c.299-351dup NM_001363098.2:c.299-352_299-351dup NM_001363098.2:c.299-353_299-351dup NM_001363098.2:c.299-354_299-351dup NM_001363098.2:c.299-355_299-351dup NM_001363098.2:c.299-356_299-351dup NM_001363098.2:c.299-357_299-351dup NM_001363098.2:c.299-358_299-351dup NM_001363098.2:c.299-359_299-351dup NM_001363098.2:c.299-360_299-351dup NM_001363098.2:c.299-361_299-351dup NM_001363098.2:c.299-362_299-351dup NM_001363098.2:c.299-363_299-351dup NM_001363098.2:c.299-364_299-351dup NM_001363098.2:c.299-365_299-351dup NM_001363098.2:c.299-366_299-351dup NM_001363098.2:c.299-367_299-351dup NM_001363098.2:c.299-368_299-351dup NM_001363098.2:c.299-369_299-351dup NM_001363098.2:c.299-370_299-351dup NM_001363098.2:c.299-371_299-351dup NM_001363098.2:c.299-375_299-351dup
ZNF250 transcript variant 4 NM_001363099.2:c.299-351= NM_001363099.2:c.299-374_299-351del NM_001363099.2:c.299-371_299-351del NM_001363099.2:c.299-367_299-351del NM_001363099.2:c.299-366_299-351del NM_001363099.2:c.299-365_299-351del NM_001363099.2:c.299-364_299-351del NM_001363099.2:c.299-363_299-351del NM_001363099.2:c.299-362_299-351del NM_001363099.2:c.299-361_299-351del NM_001363099.2:c.299-360_299-351del NM_001363099.2:c.299-359_299-351del NM_001363099.2:c.299-358_299-351del NM_001363099.2:c.299-357_299-351del NM_001363099.2:c.299-356_299-351del NM_001363099.2:c.299-355_299-351del NM_001363099.2:c.299-354_299-351del NM_001363099.2:c.299-353_299-351del NM_001363099.2:c.299-352_299-351del NM_001363099.2:c.299-351del NM_001363099.2:c.299-351dup NM_001363099.2:c.299-352_299-351dup NM_001363099.2:c.299-353_299-351dup NM_001363099.2:c.299-354_299-351dup NM_001363099.2:c.299-355_299-351dup NM_001363099.2:c.299-356_299-351dup NM_001363099.2:c.299-357_299-351dup NM_001363099.2:c.299-358_299-351dup NM_001363099.2:c.299-359_299-351dup NM_001363099.2:c.299-360_299-351dup NM_001363099.2:c.299-361_299-351dup NM_001363099.2:c.299-362_299-351dup NM_001363099.2:c.299-363_299-351dup NM_001363099.2:c.299-364_299-351dup NM_001363099.2:c.299-365_299-351dup NM_001363099.2:c.299-366_299-351dup NM_001363099.2:c.299-367_299-351dup NM_001363099.2:c.299-368_299-351dup NM_001363099.2:c.299-369_299-351dup NM_001363099.2:c.299-370_299-351dup NM_001363099.2:c.299-371_299-351dup NM_001363099.2:c.299-375_299-351dup
ZNF250 transcript variant 5 NM_001363100.2:c.284-351= NM_001363100.2:c.284-374_284-351del NM_001363100.2:c.284-371_284-351del NM_001363100.2:c.284-367_284-351del NM_001363100.2:c.284-366_284-351del NM_001363100.2:c.284-365_284-351del NM_001363100.2:c.284-364_284-351del NM_001363100.2:c.284-363_284-351del NM_001363100.2:c.284-362_284-351del NM_001363100.2:c.284-361_284-351del NM_001363100.2:c.284-360_284-351del NM_001363100.2:c.284-359_284-351del NM_001363100.2:c.284-358_284-351del NM_001363100.2:c.284-357_284-351del NM_001363100.2:c.284-356_284-351del NM_001363100.2:c.284-355_284-351del NM_001363100.2:c.284-354_284-351del NM_001363100.2:c.284-353_284-351del NM_001363100.2:c.284-352_284-351del NM_001363100.2:c.284-351del NM_001363100.2:c.284-351dup NM_001363100.2:c.284-352_284-351dup NM_001363100.2:c.284-353_284-351dup NM_001363100.2:c.284-354_284-351dup NM_001363100.2:c.284-355_284-351dup NM_001363100.2:c.284-356_284-351dup NM_001363100.2:c.284-357_284-351dup NM_001363100.2:c.284-358_284-351dup NM_001363100.2:c.284-359_284-351dup NM_001363100.2:c.284-360_284-351dup NM_001363100.2:c.284-361_284-351dup NM_001363100.2:c.284-362_284-351dup NM_001363100.2:c.284-363_284-351dup NM_001363100.2:c.284-364_284-351dup NM_001363100.2:c.284-365_284-351dup NM_001363100.2:c.284-366_284-351dup NM_001363100.2:c.284-367_284-351dup NM_001363100.2:c.284-368_284-351dup NM_001363100.2:c.284-369_284-351dup NM_001363100.2:c.284-370_284-351dup NM_001363100.2:c.284-371_284-351dup NM_001363100.2:c.284-375_284-351dup
ZNF250 transcript variant 6 NM_001363101.2:c.284-351= NM_001363101.2:c.284-374_284-351del NM_001363101.2:c.284-371_284-351del NM_001363101.2:c.284-367_284-351del NM_001363101.2:c.284-366_284-351del NM_001363101.2:c.284-365_284-351del NM_001363101.2:c.284-364_284-351del NM_001363101.2:c.284-363_284-351del NM_001363101.2:c.284-362_284-351del NM_001363101.2:c.284-361_284-351del NM_001363101.2:c.284-360_284-351del NM_001363101.2:c.284-359_284-351del NM_001363101.2:c.284-358_284-351del NM_001363101.2:c.284-357_284-351del NM_001363101.2:c.284-356_284-351del NM_001363101.2:c.284-355_284-351del NM_001363101.2:c.284-354_284-351del NM_001363101.2:c.284-353_284-351del NM_001363101.2:c.284-352_284-351del NM_001363101.2:c.284-351del NM_001363101.2:c.284-351dup NM_001363101.2:c.284-352_284-351dup NM_001363101.2:c.284-353_284-351dup NM_001363101.2:c.284-354_284-351dup NM_001363101.2:c.284-355_284-351dup NM_001363101.2:c.284-356_284-351dup NM_001363101.2:c.284-357_284-351dup NM_001363101.2:c.284-358_284-351dup NM_001363101.2:c.284-359_284-351dup NM_001363101.2:c.284-360_284-351dup NM_001363101.2:c.284-361_284-351dup NM_001363101.2:c.284-362_284-351dup NM_001363101.2:c.284-363_284-351dup NM_001363101.2:c.284-364_284-351dup NM_001363101.2:c.284-365_284-351dup NM_001363101.2:c.284-366_284-351dup NM_001363101.2:c.284-367_284-351dup NM_001363101.2:c.284-368_284-351dup NM_001363101.2:c.284-369_284-351dup NM_001363101.2:c.284-370_284-351dup NM_001363101.2:c.284-371_284-351dup NM_001363101.2:c.284-375_284-351dup
ZNF250 transcript variant 7 NM_001363102.2:c.284-351= NM_001363102.2:c.284-374_284-351del NM_001363102.2:c.284-371_284-351del NM_001363102.2:c.284-367_284-351del NM_001363102.2:c.284-366_284-351del NM_001363102.2:c.284-365_284-351del NM_001363102.2:c.284-364_284-351del NM_001363102.2:c.284-363_284-351del NM_001363102.2:c.284-362_284-351del NM_001363102.2:c.284-361_284-351del NM_001363102.2:c.284-360_284-351del NM_001363102.2:c.284-359_284-351del NM_001363102.2:c.284-358_284-351del NM_001363102.2:c.284-357_284-351del NM_001363102.2:c.284-356_284-351del NM_001363102.2:c.284-355_284-351del NM_001363102.2:c.284-354_284-351del NM_001363102.2:c.284-353_284-351del NM_001363102.2:c.284-352_284-351del NM_001363102.2:c.284-351del NM_001363102.2:c.284-351dup NM_001363102.2:c.284-352_284-351dup NM_001363102.2:c.284-353_284-351dup NM_001363102.2:c.284-354_284-351dup NM_001363102.2:c.284-355_284-351dup NM_001363102.2:c.284-356_284-351dup NM_001363102.2:c.284-357_284-351dup NM_001363102.2:c.284-358_284-351dup NM_001363102.2:c.284-359_284-351dup NM_001363102.2:c.284-360_284-351dup NM_001363102.2:c.284-361_284-351dup NM_001363102.2:c.284-362_284-351dup NM_001363102.2:c.284-363_284-351dup NM_001363102.2:c.284-364_284-351dup NM_001363102.2:c.284-365_284-351dup NM_001363102.2:c.284-366_284-351dup NM_001363102.2:c.284-367_284-351dup NM_001363102.2:c.284-368_284-351dup NM_001363102.2:c.284-369_284-351dup NM_001363102.2:c.284-370_284-351dup NM_001363102.2:c.284-371_284-351dup NM_001363102.2:c.284-375_284-351dup
ZNF250 transcript variant 8 NM_001363103.2:c.284-351= NM_001363103.2:c.284-374_284-351del NM_001363103.2:c.284-371_284-351del NM_001363103.2:c.284-367_284-351del NM_001363103.2:c.284-366_284-351del NM_001363103.2:c.284-365_284-351del NM_001363103.2:c.284-364_284-351del NM_001363103.2:c.284-363_284-351del NM_001363103.2:c.284-362_284-351del NM_001363103.2:c.284-361_284-351del NM_001363103.2:c.284-360_284-351del NM_001363103.2:c.284-359_284-351del NM_001363103.2:c.284-358_284-351del NM_001363103.2:c.284-357_284-351del NM_001363103.2:c.284-356_284-351del NM_001363103.2:c.284-355_284-351del NM_001363103.2:c.284-354_284-351del NM_001363103.2:c.284-353_284-351del NM_001363103.2:c.284-352_284-351del NM_001363103.2:c.284-351del NM_001363103.2:c.284-351dup NM_001363103.2:c.284-352_284-351dup NM_001363103.2:c.284-353_284-351dup NM_001363103.2:c.284-354_284-351dup NM_001363103.2:c.284-355_284-351dup NM_001363103.2:c.284-356_284-351dup NM_001363103.2:c.284-357_284-351dup NM_001363103.2:c.284-358_284-351dup NM_001363103.2:c.284-359_284-351dup NM_001363103.2:c.284-360_284-351dup NM_001363103.2:c.284-361_284-351dup NM_001363103.2:c.284-362_284-351dup NM_001363103.2:c.284-363_284-351dup NM_001363103.2:c.284-364_284-351dup NM_001363103.2:c.284-365_284-351dup NM_001363103.2:c.284-366_284-351dup NM_001363103.2:c.284-367_284-351dup NM_001363103.2:c.284-368_284-351dup NM_001363103.2:c.284-369_284-351dup NM_001363103.2:c.284-370_284-351dup NM_001363103.2:c.284-371_284-351dup NM_001363103.2:c.284-375_284-351dup
ZNF250 transcript variant 9 NM_001363104.2:c.298+2328= NM_001363104.2:c.298+2305_298+2328del NM_001363104.2:c.298+2308_298+2328del NM_001363104.2:c.298+2312_298+2328del NM_001363104.2:c.298+2313_298+2328del NM_001363104.2:c.298+2314_298+2328del NM_001363104.2:c.298+2315_298+2328del NM_001363104.2:c.298+2316_298+2328del NM_001363104.2:c.298+2317_298+2328del NM_001363104.2:c.298+2318_298+2328del NM_001363104.2:c.298+2319_298+2328del NM_001363104.2:c.298+2320_298+2328del NM_001363104.2:c.298+2321_298+2328del NM_001363104.2:c.298+2322_298+2328del NM_001363104.2:c.298+2323_298+2328del NM_001363104.2:c.298+2324_298+2328del NM_001363104.2:c.298+2325_298+2328del NM_001363104.2:c.298+2326_298+2328del NM_001363104.2:c.298+2327_298+2328del NM_001363104.2:c.298+2328del NM_001363104.2:c.298+2328dup NM_001363104.2:c.298+2327_298+2328dup NM_001363104.2:c.298+2326_298+2328dup NM_001363104.2:c.298+2325_298+2328dup NM_001363104.2:c.298+2324_298+2328dup NM_001363104.2:c.298+2323_298+2328dup NM_001363104.2:c.298+2322_298+2328dup NM_001363104.2:c.298+2321_298+2328dup NM_001363104.2:c.298+2320_298+2328dup NM_001363104.2:c.298+2319_298+2328dup NM_001363104.2:c.298+2318_298+2328dup NM_001363104.2:c.298+2317_298+2328dup NM_001363104.2:c.298+2316_298+2328dup NM_001363104.2:c.298+2315_298+2328dup NM_001363104.2:c.298+2314_298+2328dup NM_001363104.2:c.298+2313_298+2328dup NM_001363104.2:c.298+2312_298+2328dup NM_001363104.2:c.298+2311_298+2328dup NM_001363104.2:c.298+2310_298+2328dup NM_001363104.2:c.298+2309_298+2328dup NM_001363104.2:c.298+2308_298+2328dup NM_001363104.2:c.298+2304_298+2328dup
ZNF250 transcript variant 10 NM_001363105.2:c.283+2328= NM_001363105.2:c.283+2305_283+2328del NM_001363105.2:c.283+2308_283+2328del NM_001363105.2:c.283+2312_283+2328del NM_001363105.2:c.283+2313_283+2328del NM_001363105.2:c.283+2314_283+2328del NM_001363105.2:c.283+2315_283+2328del NM_001363105.2:c.283+2316_283+2328del NM_001363105.2:c.283+2317_283+2328del NM_001363105.2:c.283+2318_283+2328del NM_001363105.2:c.283+2319_283+2328del NM_001363105.2:c.283+2320_283+2328del NM_001363105.2:c.283+2321_283+2328del NM_001363105.2:c.283+2322_283+2328del NM_001363105.2:c.283+2323_283+2328del NM_001363105.2:c.283+2324_283+2328del NM_001363105.2:c.283+2325_283+2328del NM_001363105.2:c.283+2326_283+2328del NM_001363105.2:c.283+2327_283+2328del NM_001363105.2:c.283+2328del NM_001363105.2:c.283+2328dup NM_001363105.2:c.283+2327_283+2328dup NM_001363105.2:c.283+2326_283+2328dup NM_001363105.2:c.283+2325_283+2328dup NM_001363105.2:c.283+2324_283+2328dup NM_001363105.2:c.283+2323_283+2328dup NM_001363105.2:c.283+2322_283+2328dup NM_001363105.2:c.283+2321_283+2328dup NM_001363105.2:c.283+2320_283+2328dup NM_001363105.2:c.283+2319_283+2328dup NM_001363105.2:c.283+2318_283+2328dup NM_001363105.2:c.283+2317_283+2328dup NM_001363105.2:c.283+2316_283+2328dup NM_001363105.2:c.283+2315_283+2328dup NM_001363105.2:c.283+2314_283+2328dup NM_001363105.2:c.283+2313_283+2328dup NM_001363105.2:c.283+2312_283+2328dup NM_001363105.2:c.283+2311_283+2328dup NM_001363105.2:c.283+2310_283+2328dup NM_001363105.2:c.283+2309_283+2328dup NM_001363105.2:c.283+2308_283+2328dup NM_001363105.2:c.283+2304_283+2328dup
ZNF250 transcript variant 11 NM_001363106.2:c.283+2328= NM_001363106.2:c.283+2305_283+2328del NM_001363106.2:c.283+2308_283+2328del NM_001363106.2:c.283+2312_283+2328del NM_001363106.2:c.283+2313_283+2328del NM_001363106.2:c.283+2314_283+2328del NM_001363106.2:c.283+2315_283+2328del NM_001363106.2:c.283+2316_283+2328del NM_001363106.2:c.283+2317_283+2328del NM_001363106.2:c.283+2318_283+2328del NM_001363106.2:c.283+2319_283+2328del NM_001363106.2:c.283+2320_283+2328del NM_001363106.2:c.283+2321_283+2328del NM_001363106.2:c.283+2322_283+2328del NM_001363106.2:c.283+2323_283+2328del NM_001363106.2:c.283+2324_283+2328del NM_001363106.2:c.283+2325_283+2328del NM_001363106.2:c.283+2326_283+2328del NM_001363106.2:c.283+2327_283+2328del NM_001363106.2:c.283+2328del NM_001363106.2:c.283+2328dup NM_001363106.2:c.283+2327_283+2328dup NM_001363106.2:c.283+2326_283+2328dup NM_001363106.2:c.283+2325_283+2328dup NM_001363106.2:c.283+2324_283+2328dup NM_001363106.2:c.283+2323_283+2328dup NM_001363106.2:c.283+2322_283+2328dup NM_001363106.2:c.283+2321_283+2328dup NM_001363106.2:c.283+2320_283+2328dup NM_001363106.2:c.283+2319_283+2328dup NM_001363106.2:c.283+2318_283+2328dup NM_001363106.2:c.283+2317_283+2328dup NM_001363106.2:c.283+2316_283+2328dup NM_001363106.2:c.283+2315_283+2328dup NM_001363106.2:c.283+2314_283+2328dup NM_001363106.2:c.283+2313_283+2328dup NM_001363106.2:c.283+2312_283+2328dup NM_001363106.2:c.283+2311_283+2328dup NM_001363106.2:c.283+2310_283+2328dup NM_001363106.2:c.283+2309_283+2328dup NM_001363106.2:c.283+2308_283+2328dup NM_001363106.2:c.283+2304_283+2328dup
ZNF250 transcript variant 12 NM_001363107.2:c.283+2328= NM_001363107.2:c.283+2305_283+2328del NM_001363107.2:c.283+2308_283+2328del NM_001363107.2:c.283+2312_283+2328del NM_001363107.2:c.283+2313_283+2328del NM_001363107.2:c.283+2314_283+2328del NM_001363107.2:c.283+2315_283+2328del NM_001363107.2:c.283+2316_283+2328del NM_001363107.2:c.283+2317_283+2328del NM_001363107.2:c.283+2318_283+2328del NM_001363107.2:c.283+2319_283+2328del NM_001363107.2:c.283+2320_283+2328del NM_001363107.2:c.283+2321_283+2328del NM_001363107.2:c.283+2322_283+2328del NM_001363107.2:c.283+2323_283+2328del NM_001363107.2:c.283+2324_283+2328del NM_001363107.2:c.283+2325_283+2328del NM_001363107.2:c.283+2326_283+2328del NM_001363107.2:c.283+2327_283+2328del NM_001363107.2:c.283+2328del NM_001363107.2:c.283+2328dup NM_001363107.2:c.283+2327_283+2328dup NM_001363107.2:c.283+2326_283+2328dup NM_001363107.2:c.283+2325_283+2328dup NM_001363107.2:c.283+2324_283+2328dup NM_001363107.2:c.283+2323_283+2328dup NM_001363107.2:c.283+2322_283+2328dup NM_001363107.2:c.283+2321_283+2328dup NM_001363107.2:c.283+2320_283+2328dup NM_001363107.2:c.283+2319_283+2328dup NM_001363107.2:c.283+2318_283+2328dup NM_001363107.2:c.283+2317_283+2328dup NM_001363107.2:c.283+2316_283+2328dup NM_001363107.2:c.283+2315_283+2328dup NM_001363107.2:c.283+2314_283+2328dup NM_001363107.2:c.283+2313_283+2328dup NM_001363107.2:c.283+2312_283+2328dup NM_001363107.2:c.283+2311_283+2328dup NM_001363107.2:c.283+2310_283+2328dup NM_001363107.2:c.283+2309_283+2328dup NM_001363107.2:c.283+2308_283+2328dup NM_001363107.2:c.283+2304_283+2328dup
ZNF250 transcript variant 1 NM_021061.4:c.299-351= NM_021061.4:c.299-374_299-351del NM_021061.4:c.299-371_299-351del NM_021061.4:c.299-367_299-351del NM_021061.4:c.299-366_299-351del NM_021061.4:c.299-365_299-351del NM_021061.4:c.299-364_299-351del NM_021061.4:c.299-363_299-351del NM_021061.4:c.299-362_299-351del NM_021061.4:c.299-361_299-351del NM_021061.4:c.299-360_299-351del NM_021061.4:c.299-359_299-351del NM_021061.4:c.299-358_299-351del NM_021061.4:c.299-357_299-351del NM_021061.4:c.299-356_299-351del NM_021061.4:c.299-355_299-351del NM_021061.4:c.299-354_299-351del NM_021061.4:c.299-353_299-351del NM_021061.4:c.299-352_299-351del NM_021061.4:c.299-351del NM_021061.4:c.299-351dup NM_021061.4:c.299-352_299-351dup NM_021061.4:c.299-353_299-351dup NM_021061.4:c.299-354_299-351dup NM_021061.4:c.299-355_299-351dup NM_021061.4:c.299-356_299-351dup NM_021061.4:c.299-357_299-351dup NM_021061.4:c.299-358_299-351dup NM_021061.4:c.299-359_299-351dup NM_021061.4:c.299-360_299-351dup NM_021061.4:c.299-361_299-351dup NM_021061.4:c.299-362_299-351dup NM_021061.4:c.299-363_299-351dup NM_021061.4:c.299-364_299-351dup NM_021061.4:c.299-365_299-351dup NM_021061.4:c.299-366_299-351dup NM_021061.4:c.299-367_299-351dup NM_021061.4:c.299-368_299-351dup NM_021061.4:c.299-369_299-351dup NM_021061.4:c.299-370_299-351dup NM_021061.4:c.299-371_299-351dup NM_021061.4:c.299-375_299-351dup
ZNF250 transcript variant 1 NM_021061.5:c.299-351= NM_021061.5:c.299-374_299-351del NM_021061.5:c.299-371_299-351del NM_021061.5:c.299-367_299-351del NM_021061.5:c.299-366_299-351del NM_021061.5:c.299-365_299-351del NM_021061.5:c.299-364_299-351del NM_021061.5:c.299-363_299-351del NM_021061.5:c.299-362_299-351del NM_021061.5:c.299-361_299-351del NM_021061.5:c.299-360_299-351del NM_021061.5:c.299-359_299-351del NM_021061.5:c.299-358_299-351del NM_021061.5:c.299-357_299-351del NM_021061.5:c.299-356_299-351del NM_021061.5:c.299-355_299-351del NM_021061.5:c.299-354_299-351del NM_021061.5:c.299-353_299-351del NM_021061.5:c.299-352_299-351del NM_021061.5:c.299-351del NM_021061.5:c.299-351dup NM_021061.5:c.299-352_299-351dup NM_021061.5:c.299-353_299-351dup NM_021061.5:c.299-354_299-351dup NM_021061.5:c.299-355_299-351dup NM_021061.5:c.299-356_299-351dup NM_021061.5:c.299-357_299-351dup NM_021061.5:c.299-358_299-351dup NM_021061.5:c.299-359_299-351dup NM_021061.5:c.299-360_299-351dup NM_021061.5:c.299-361_299-351dup NM_021061.5:c.299-362_299-351dup NM_021061.5:c.299-363_299-351dup NM_021061.5:c.299-364_299-351dup NM_021061.5:c.299-365_299-351dup NM_021061.5:c.299-366_299-351dup NM_021061.5:c.299-367_299-351dup NM_021061.5:c.299-368_299-351dup NM_021061.5:c.299-369_299-351dup NM_021061.5:c.299-370_299-351dup NM_021061.5:c.299-371_299-351dup NM_021061.5:c.299-375_299-351dup
ZNF250 transcript variant X5 XM_005272327.1:c.284-351= XM_005272327.1:c.284-374_284-351del XM_005272327.1:c.284-371_284-351del XM_005272327.1:c.284-367_284-351del XM_005272327.1:c.284-366_284-351del XM_005272327.1:c.284-365_284-351del XM_005272327.1:c.284-364_284-351del XM_005272327.1:c.284-363_284-351del XM_005272327.1:c.284-362_284-351del XM_005272327.1:c.284-361_284-351del XM_005272327.1:c.284-360_284-351del XM_005272327.1:c.284-359_284-351del XM_005272327.1:c.284-358_284-351del XM_005272327.1:c.284-357_284-351del XM_005272327.1:c.284-356_284-351del XM_005272327.1:c.284-355_284-351del XM_005272327.1:c.284-354_284-351del XM_005272327.1:c.284-353_284-351del XM_005272327.1:c.284-352_284-351del XM_005272327.1:c.284-351del XM_005272327.1:c.284-351dup XM_005272327.1:c.284-352_284-351dup XM_005272327.1:c.284-353_284-351dup XM_005272327.1:c.284-354_284-351dup XM_005272327.1:c.284-355_284-351dup XM_005272327.1:c.284-356_284-351dup XM_005272327.1:c.284-357_284-351dup XM_005272327.1:c.284-358_284-351dup XM_005272327.1:c.284-359_284-351dup XM_005272327.1:c.284-360_284-351dup XM_005272327.1:c.284-361_284-351dup XM_005272327.1:c.284-362_284-351dup XM_005272327.1:c.284-363_284-351dup XM_005272327.1:c.284-364_284-351dup XM_005272327.1:c.284-365_284-351dup XM_005272327.1:c.284-366_284-351dup XM_005272327.1:c.284-367_284-351dup XM_005272327.1:c.284-368_284-351dup XM_005272327.1:c.284-369_284-351dup XM_005272327.1:c.284-370_284-351dup XM_005272327.1:c.284-371_284-351dup XM_005272327.1:c.284-375_284-351dup
ZNF250 transcript variant X2 XM_005272328.1:c.284-351= XM_005272328.1:c.284-374_284-351del XM_005272328.1:c.284-371_284-351del XM_005272328.1:c.284-367_284-351del XM_005272328.1:c.284-366_284-351del XM_005272328.1:c.284-365_284-351del XM_005272328.1:c.284-364_284-351del XM_005272328.1:c.284-363_284-351del XM_005272328.1:c.284-362_284-351del XM_005272328.1:c.284-361_284-351del XM_005272328.1:c.284-360_284-351del XM_005272328.1:c.284-359_284-351del XM_005272328.1:c.284-358_284-351del XM_005272328.1:c.284-357_284-351del XM_005272328.1:c.284-356_284-351del XM_005272328.1:c.284-355_284-351del XM_005272328.1:c.284-354_284-351del XM_005272328.1:c.284-353_284-351del XM_005272328.1:c.284-352_284-351del XM_005272328.1:c.284-351del XM_005272328.1:c.284-351dup XM_005272328.1:c.284-352_284-351dup XM_005272328.1:c.284-353_284-351dup XM_005272328.1:c.284-354_284-351dup XM_005272328.1:c.284-355_284-351dup XM_005272328.1:c.284-356_284-351dup XM_005272328.1:c.284-357_284-351dup XM_005272328.1:c.284-358_284-351dup XM_005272328.1:c.284-359_284-351dup XM_005272328.1:c.284-360_284-351dup XM_005272328.1:c.284-361_284-351dup XM_005272328.1:c.284-362_284-351dup XM_005272328.1:c.284-363_284-351dup XM_005272328.1:c.284-364_284-351dup XM_005272328.1:c.284-365_284-351dup XM_005272328.1:c.284-366_284-351dup XM_005272328.1:c.284-367_284-351dup XM_005272328.1:c.284-368_284-351dup XM_005272328.1:c.284-369_284-351dup XM_005272328.1:c.284-370_284-351dup XM_005272328.1:c.284-371_284-351dup XM_005272328.1:c.284-375_284-351dup
ZNF250 transcript variant X3 XM_005272329.1:c.284-351= XM_005272329.1:c.284-374_284-351del XM_005272329.1:c.284-371_284-351del XM_005272329.1:c.284-367_284-351del XM_005272329.1:c.284-366_284-351del XM_005272329.1:c.284-365_284-351del XM_005272329.1:c.284-364_284-351del XM_005272329.1:c.284-363_284-351del XM_005272329.1:c.284-362_284-351del XM_005272329.1:c.284-361_284-351del XM_005272329.1:c.284-360_284-351del XM_005272329.1:c.284-359_284-351del XM_005272329.1:c.284-358_284-351del XM_005272329.1:c.284-357_284-351del XM_005272329.1:c.284-356_284-351del XM_005272329.1:c.284-355_284-351del XM_005272329.1:c.284-354_284-351del XM_005272329.1:c.284-353_284-351del XM_005272329.1:c.284-352_284-351del XM_005272329.1:c.284-351del XM_005272329.1:c.284-351dup XM_005272329.1:c.284-352_284-351dup XM_005272329.1:c.284-353_284-351dup XM_005272329.1:c.284-354_284-351dup XM_005272329.1:c.284-355_284-351dup XM_005272329.1:c.284-356_284-351dup XM_005272329.1:c.284-357_284-351dup XM_005272329.1:c.284-358_284-351dup XM_005272329.1:c.284-359_284-351dup XM_005272329.1:c.284-360_284-351dup XM_005272329.1:c.284-361_284-351dup XM_005272329.1:c.284-362_284-351dup XM_005272329.1:c.284-363_284-351dup XM_005272329.1:c.284-364_284-351dup XM_005272329.1:c.284-365_284-351dup XM_005272329.1:c.284-366_284-351dup XM_005272329.1:c.284-367_284-351dup XM_005272329.1:c.284-368_284-351dup XM_005272329.1:c.284-369_284-351dup XM_005272329.1:c.284-370_284-351dup XM_005272329.1:c.284-371_284-351dup XM_005272329.1:c.284-375_284-351dup
ZNF250 transcript variant X4 XM_005272330.1:c.298+2328= XM_005272330.1:c.298+2305_298+2328del XM_005272330.1:c.298+2308_298+2328del XM_005272330.1:c.298+2312_298+2328del XM_005272330.1:c.298+2313_298+2328del XM_005272330.1:c.298+2314_298+2328del XM_005272330.1:c.298+2315_298+2328del XM_005272330.1:c.298+2316_298+2328del XM_005272330.1:c.298+2317_298+2328del XM_005272330.1:c.298+2318_298+2328del XM_005272330.1:c.298+2319_298+2328del XM_005272330.1:c.298+2320_298+2328del XM_005272330.1:c.298+2321_298+2328del XM_005272330.1:c.298+2322_298+2328del XM_005272330.1:c.298+2323_298+2328del XM_005272330.1:c.298+2324_298+2328del XM_005272330.1:c.298+2325_298+2328del XM_005272330.1:c.298+2326_298+2328del XM_005272330.1:c.298+2327_298+2328del XM_005272330.1:c.298+2328del XM_005272330.1:c.298+2328dup XM_005272330.1:c.298+2327_298+2328dup XM_005272330.1:c.298+2326_298+2328dup XM_005272330.1:c.298+2325_298+2328dup XM_005272330.1:c.298+2324_298+2328dup XM_005272330.1:c.298+2323_298+2328dup XM_005272330.1:c.298+2322_298+2328dup XM_005272330.1:c.298+2321_298+2328dup XM_005272330.1:c.298+2320_298+2328dup XM_005272330.1:c.298+2319_298+2328dup XM_005272330.1:c.298+2318_298+2328dup XM_005272330.1:c.298+2317_298+2328dup XM_005272330.1:c.298+2316_298+2328dup XM_005272330.1:c.298+2315_298+2328dup XM_005272330.1:c.298+2314_298+2328dup XM_005272330.1:c.298+2313_298+2328dup XM_005272330.1:c.298+2312_298+2328dup XM_005272330.1:c.298+2311_298+2328dup XM_005272330.1:c.298+2310_298+2328dup XM_005272330.1:c.298+2309_298+2328dup XM_005272330.1:c.298+2308_298+2328dup XM_005272330.1:c.298+2304_298+2328dup
ZNF250 transcript variant X5 XM_005272331.1:c.283+2328= XM_005272331.1:c.283+2305_283+2328del XM_005272331.1:c.283+2308_283+2328del XM_005272331.1:c.283+2312_283+2328del XM_005272331.1:c.283+2313_283+2328del XM_005272331.1:c.283+2314_283+2328del XM_005272331.1:c.283+2315_283+2328del XM_005272331.1:c.283+2316_283+2328del XM_005272331.1:c.283+2317_283+2328del XM_005272331.1:c.283+2318_283+2328del XM_005272331.1:c.283+2319_283+2328del XM_005272331.1:c.283+2320_283+2328del XM_005272331.1:c.283+2321_283+2328del XM_005272331.1:c.283+2322_283+2328del XM_005272331.1:c.283+2323_283+2328del XM_005272331.1:c.283+2324_283+2328del XM_005272331.1:c.283+2325_283+2328del XM_005272331.1:c.283+2326_283+2328del XM_005272331.1:c.283+2327_283+2328del XM_005272331.1:c.283+2328del XM_005272331.1:c.283+2328dup XM_005272331.1:c.283+2327_283+2328dup XM_005272331.1:c.283+2326_283+2328dup XM_005272331.1:c.283+2325_283+2328dup XM_005272331.1:c.283+2324_283+2328dup XM_005272331.1:c.283+2323_283+2328dup XM_005272331.1:c.283+2322_283+2328dup XM_005272331.1:c.283+2321_283+2328dup XM_005272331.1:c.283+2320_283+2328dup XM_005272331.1:c.283+2319_283+2328dup XM_005272331.1:c.283+2318_283+2328dup XM_005272331.1:c.283+2317_283+2328dup XM_005272331.1:c.283+2316_283+2328dup XM_005272331.1:c.283+2315_283+2328dup XM_005272331.1:c.283+2314_283+2328dup XM_005272331.1:c.283+2313_283+2328dup XM_005272331.1:c.283+2312_283+2328dup XM_005272331.1:c.283+2311_283+2328dup XM_005272331.1:c.283+2310_283+2328dup XM_005272331.1:c.283+2309_283+2328dup XM_005272331.1:c.283+2308_283+2328dup XM_005272331.1:c.283+2304_283+2328dup
ZNF250 transcript variant X1 XM_047422064.1:c.299-351= XM_047422064.1:c.299-374_299-351del XM_047422064.1:c.299-371_299-351del XM_047422064.1:c.299-367_299-351del XM_047422064.1:c.299-366_299-351del XM_047422064.1:c.299-365_299-351del XM_047422064.1:c.299-364_299-351del XM_047422064.1:c.299-363_299-351del XM_047422064.1:c.299-362_299-351del XM_047422064.1:c.299-361_299-351del XM_047422064.1:c.299-360_299-351del XM_047422064.1:c.299-359_299-351del XM_047422064.1:c.299-358_299-351del XM_047422064.1:c.299-357_299-351del XM_047422064.1:c.299-356_299-351del XM_047422064.1:c.299-355_299-351del XM_047422064.1:c.299-354_299-351del XM_047422064.1:c.299-353_299-351del XM_047422064.1:c.299-352_299-351del XM_047422064.1:c.299-351del XM_047422064.1:c.299-351dup XM_047422064.1:c.299-352_299-351dup XM_047422064.1:c.299-353_299-351dup XM_047422064.1:c.299-354_299-351dup XM_047422064.1:c.299-355_299-351dup XM_047422064.1:c.299-356_299-351dup XM_047422064.1:c.299-357_299-351dup XM_047422064.1:c.299-358_299-351dup XM_047422064.1:c.299-359_299-351dup XM_047422064.1:c.299-360_299-351dup XM_047422064.1:c.299-361_299-351dup XM_047422064.1:c.299-362_299-351dup XM_047422064.1:c.299-363_299-351dup XM_047422064.1:c.299-364_299-351dup XM_047422064.1:c.299-365_299-351dup XM_047422064.1:c.299-366_299-351dup XM_047422064.1:c.299-367_299-351dup XM_047422064.1:c.299-368_299-351dup XM_047422064.1:c.299-369_299-351dup XM_047422064.1:c.299-370_299-351dup XM_047422064.1:c.299-371_299-351dup XM_047422064.1:c.299-375_299-351dup
ZNF250 transcript variant X2 XM_047422065.1:c.283+2328= XM_047422065.1:c.283+2305_283+2328del XM_047422065.1:c.283+2308_283+2328del XM_047422065.1:c.283+2312_283+2328del XM_047422065.1:c.283+2313_283+2328del XM_047422065.1:c.283+2314_283+2328del XM_047422065.1:c.283+2315_283+2328del XM_047422065.1:c.283+2316_283+2328del XM_047422065.1:c.283+2317_283+2328del XM_047422065.1:c.283+2318_283+2328del XM_047422065.1:c.283+2319_283+2328del XM_047422065.1:c.283+2320_283+2328del XM_047422065.1:c.283+2321_283+2328del XM_047422065.1:c.283+2322_283+2328del XM_047422065.1:c.283+2323_283+2328del XM_047422065.1:c.283+2324_283+2328del XM_047422065.1:c.283+2325_283+2328del XM_047422065.1:c.283+2326_283+2328del XM_047422065.1:c.283+2327_283+2328del XM_047422065.1:c.283+2328del XM_047422065.1:c.283+2328dup XM_047422065.1:c.283+2327_283+2328dup XM_047422065.1:c.283+2326_283+2328dup XM_047422065.1:c.283+2325_283+2328dup XM_047422065.1:c.283+2324_283+2328dup XM_047422065.1:c.283+2323_283+2328dup XM_047422065.1:c.283+2322_283+2328dup XM_047422065.1:c.283+2321_283+2328dup XM_047422065.1:c.283+2320_283+2328dup XM_047422065.1:c.283+2319_283+2328dup XM_047422065.1:c.283+2318_283+2328dup XM_047422065.1:c.283+2317_283+2328dup XM_047422065.1:c.283+2316_283+2328dup XM_047422065.1:c.283+2315_283+2328dup XM_047422065.1:c.283+2314_283+2328dup XM_047422065.1:c.283+2313_283+2328dup XM_047422065.1:c.283+2312_283+2328dup XM_047422065.1:c.283+2311_283+2328dup XM_047422065.1:c.283+2310_283+2328dup XM_047422065.1:c.283+2309_283+2328dup XM_047422065.1:c.283+2308_283+2328dup XM_047422065.1:c.283+2304_283+2328dup
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#.

81 SubSNP, 53 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss79925265 Dec 14, 2007 (129)
2 HGSV ss82124632 Aug 21, 2014 (142)
3 HUMANGENOME_JCVI ss95508388 Feb 06, 2009 (138)
4 HUMANGENOME_JCVI ss98034565 Feb 06, 2009 (138)
5 PJP ss295405997 May 09, 2011 (142)
6 1000GENOMES ss1368139858 Aug 21, 2014 (142)
7 EVA_UK10K_ALSPAC ss1706294368 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1706294494 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1710409709 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1710409712 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710409784 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1710409785 Apr 01, 2015 (144)
13 SWEGEN ss3004216751 Nov 08, 2017 (151)
14 EVA_DECODE ss3723275549 Jul 13, 2019 (153)
15 EVA_DECODE ss3723275550 Jul 13, 2019 (153)
16 EVA_DECODE ss3723275551 Jul 13, 2019 (153)
17 EVA_DECODE ss3723275552 Jul 13, 2019 (153)
18 EVA_DECODE ss3723275553 Jul 13, 2019 (153)
19 EVA_DECODE ss3723275554 Jul 13, 2019 (153)
20 ACPOP ss3736218594 Jul 13, 2019 (153)
21 PACBIO ss3786318849 Jul 13, 2019 (153)
22 PACBIO ss3791548203 Jul 13, 2019 (153)
23 PACBIO ss3791548204 Jul 13, 2019 (153)
24 PACBIO ss3796429833 Jul 13, 2019 (153)
25 PACBIO ss3796429834 Jul 13, 2019 (153)
26 KHV_HUMAN_GENOMES ss3811940763 Jul 13, 2019 (153)
27 EVA ss3831482950 Apr 26, 2020 (154)
28 GNOMAD ss4195789425 Apr 26, 2021 (155)
29 GNOMAD ss4195789426 Apr 26, 2021 (155)
30 GNOMAD ss4195789427 Apr 26, 2021 (155)
31 GNOMAD ss4195789428 Apr 26, 2021 (155)
32 GNOMAD ss4195789429 Apr 26, 2021 (155)
33 GNOMAD ss4195789430 Apr 26, 2021 (155)
34 GNOMAD ss4195789431 Apr 26, 2021 (155)
35 GNOMAD ss4195789432 Apr 26, 2021 (155)
36 GNOMAD ss4195789433 Apr 26, 2021 (155)
37 GNOMAD ss4195789434 Apr 26, 2021 (155)
38 GNOMAD ss4195789435 Apr 26, 2021 (155)
39 GNOMAD ss4195789436 Apr 26, 2021 (155)
40 GNOMAD ss4195789437 Apr 26, 2021 (155)
41 GNOMAD ss4195789438 Apr 26, 2021 (155)
42 GNOMAD ss4195789439 Apr 26, 2021 (155)
43 GNOMAD ss4195789440 Apr 26, 2021 (155)
44 GNOMAD ss4195789441 Apr 26, 2021 (155)
45 GNOMAD ss4195789442 Apr 26, 2021 (155)
46 GNOMAD ss4195789443 Apr 26, 2021 (155)
47 GNOMAD ss4195789444 Apr 26, 2021 (155)
48 GNOMAD ss4195789445 Apr 26, 2021 (155)
49 GNOMAD ss4195789446 Apr 26, 2021 (155)
50 GNOMAD ss4195789447 Apr 26, 2021 (155)
51 GNOMAD ss4195789448 Apr 26, 2021 (155)
52 GNOMAD ss4195789449 Apr 26, 2021 (155)
53 GNOMAD ss4195789450 Apr 26, 2021 (155)
54 GNOMAD ss4195789451 Apr 26, 2021 (155)
55 GNOMAD ss4195789452 Apr 26, 2021 (155)
56 GNOMAD ss4195789453 Apr 26, 2021 (155)
57 GNOMAD ss4195789454 Apr 26, 2021 (155)
58 GNOMAD ss4195789455 Apr 26, 2021 (155)
59 GNOMAD ss4195789456 Apr 26, 2021 (155)
60 GNOMAD ss4195789457 Apr 26, 2021 (155)
61 TOMMO_GENOMICS ss5191608727 Apr 26, 2021 (155)
62 TOMMO_GENOMICS ss5191608728 Apr 26, 2021 (155)
63 TOMMO_GENOMICS ss5191608729 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5191608730 Apr 26, 2021 (155)
65 TOMMO_GENOMICS ss5191608731 Apr 26, 2021 (155)
66 TOMMO_GENOMICS ss5191608732 Apr 26, 2021 (155)
67 1000G_HIGH_COVERAGE ss5279422553 Oct 16, 2022 (156)
68 1000G_HIGH_COVERAGE ss5279422554 Oct 16, 2022 (156)
69 1000G_HIGH_COVERAGE ss5279422555 Oct 16, 2022 (156)
70 1000G_HIGH_COVERAGE ss5279422556 Oct 16, 2022 (156)
71 1000G_HIGH_COVERAGE ss5279422557 Oct 16, 2022 (156)
72 HUGCELL_USP ss5475750936 Oct 16, 2022 (156)
73 HUGCELL_USP ss5475750937 Oct 16, 2022 (156)
74 HUGCELL_USP ss5475750938 Oct 16, 2022 (156)
75 HUGCELL_USP ss5475750939 Oct 16, 2022 (156)
76 HUGCELL_USP ss5475750940 Oct 16, 2022 (156)
77 TOMMO_GENOMICS ss5734525919 Oct 16, 2022 (156)
78 TOMMO_GENOMICS ss5734525920 Oct 16, 2022 (156)
79 TOMMO_GENOMICS ss5734525921 Oct 16, 2022 (156)
80 TOMMO_GENOMICS ss5734525922 Oct 16, 2022 (156)
81 TOMMO_GENOMICS ss5734525923 Oct 16, 2022 (156)
82 1000Genomes NC_000008.10 - 146112638 Oct 12, 2018 (152)
83 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 24866589 (NC_000008.10:146112639:AAA: 1965/3854)
Row 24866590 (NC_000008.10:146112638:AAAAA: 1213/3854)
Row 24866591 (NC_000008.10:146112637:AAAAAAA: 502/3854)

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

Submission ignored due to conflicting rows:
Row 24866589 (NC_000008.10:146112639:AAA: 1965/3854)
Row 24866590 (NC_000008.10:146112638:AAAAA: 1213/3854)
Row 24866591 (NC_000008.10:146112637:AAAAAAA: 502/3854)

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

Submission ignored due to conflicting rows:
Row 24866589 (NC_000008.10:146112639:AAA: 1965/3854)
Row 24866590 (NC_000008.10:146112638:AAAAA: 1213/3854)
Row 24866591 (NC_000008.10:146112637:AAAAAAA: 502/3854)

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

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

Submission ignored due to conflicting rows:
Row 315024246 (NC_000008.11:144887252::A 1094/57840)
Row 315024247 (NC_000008.11:144887252::AA 115/57850)
Row 315024248 (NC_000008.11:144887252::AAAA 139/57884)...

- Apr 26, 2021 (155)
119 Northern Sweden NC_000008.10 - 146112638 Jul 13, 2019 (153)
120 8.3KJPN

Submission ignored due to conflicting rows:
Row 49578034 (NC_000008.10:146112637:AAAAAAAAAA: 4252/15754)
Row 49578035 (NC_000008.10:146112637:AAAAA: 3525/15754)
Row 49578036 (NC_000008.10:146112637:AAAAAAAAAAA: 11/15754)...

- Apr 26, 2021 (155)
121 8.3KJPN

Submission ignored due to conflicting rows:
Row 49578034 (NC_000008.10:146112637:AAAAAAAAAA: 4252/15754)
Row 49578035 (NC_000008.10:146112637:AAAAA: 3525/15754)
Row 49578036 (NC_000008.10:146112637:AAAAAAAAAAA: 11/15754)...

- Apr 26, 2021 (155)
122 8.3KJPN

Submission ignored due to conflicting rows:
Row 49578034 (NC_000008.10:146112637:AAAAAAAAAA: 4252/15754)
Row 49578035 (NC_000008.10:146112637:AAAAA: 3525/15754)
Row 49578036 (NC_000008.10:146112637:AAAAAAAAAAA: 11/15754)...

- Apr 26, 2021 (155)
123 8.3KJPN

Submission ignored due to conflicting rows:
Row 49578034 (NC_000008.10:146112637:AAAAAAAAAA: 4252/15754)
Row 49578035 (NC_000008.10:146112637:AAAAA: 3525/15754)
Row 49578036 (NC_000008.10:146112637:AAAAAAAAAAA: 11/15754)...

- Apr 26, 2021 (155)
124 8.3KJPN

Submission ignored due to conflicting rows:
Row 49578034 (NC_000008.10:146112637:AAAAAAAAAA: 4252/15754)
Row 49578035 (NC_000008.10:146112637:AAAAA: 3525/15754)
Row 49578036 (NC_000008.10:146112637:AAAAAAAAAAA: 11/15754)...

- Apr 26, 2021 (155)
125 8.3KJPN

Submission ignored due to conflicting rows:
Row 49578034 (NC_000008.10:146112637:AAAAAAAAAA: 4252/15754)
Row 49578035 (NC_000008.10:146112637:AAAAA: 3525/15754)
Row 49578036 (NC_000008.10:146112637:AAAAAAAAAAA: 11/15754)...

- Apr 26, 2021 (155)
126 14KJPN

Submission ignored due to conflicting rows:
Row 68363023 (NC_000008.11:144887252:AAAAAAAAAA: 8840/26326)
Row 68363024 (NC_000008.11:144887252:AAAAA: 6595/26326)
Row 68363025 (NC_000008.11:144887252::A 74/26326)...

- Oct 16, 2022 (156)
127 14KJPN

Submission ignored due to conflicting rows:
Row 68363023 (NC_000008.11:144887252:AAAAAAAAAA: 8840/26326)
Row 68363024 (NC_000008.11:144887252:AAAAA: 6595/26326)
Row 68363025 (NC_000008.11:144887252::A 74/26326)...

- Oct 16, 2022 (156)
128 14KJPN

Submission ignored due to conflicting rows:
Row 68363023 (NC_000008.11:144887252:AAAAAAAAAA: 8840/26326)
Row 68363024 (NC_000008.11:144887252:AAAAA: 6595/26326)
Row 68363025 (NC_000008.11:144887252::A 74/26326)...

- Oct 16, 2022 (156)
129 14KJPN

Submission ignored due to conflicting rows:
Row 68363023 (NC_000008.11:144887252:AAAAAAAAAA: 8840/26326)
Row 68363024 (NC_000008.11:144887252:AAAAA: 6595/26326)
Row 68363025 (NC_000008.11:144887252::A 74/26326)...

- Oct 16, 2022 (156)
130 14KJPN

Submission ignored due to conflicting rows:
Row 68363023 (NC_000008.11:144887252:AAAAAAAAAA: 8840/26326)
Row 68363024 (NC_000008.11:144887252:AAAAA: 6595/26326)
Row 68363025 (NC_000008.11:144887252::A 74/26326)...

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

Submission ignored due to conflicting rows:
Row 24866589 (NC_000008.10:146112639:AAA: 1901/3708)
Row 24866590 (NC_000008.10:146112638:AAAAA: 1130/3708)
Row 24866591 (NC_000008.10:146112637:AAAAAAA: 498/3708)

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

Submission ignored due to conflicting rows:
Row 24866589 (NC_000008.10:146112639:AAA: 1901/3708)
Row 24866590 (NC_000008.10:146112638:AAAAA: 1130/3708)
Row 24866591 (NC_000008.10:146112637:AAAAAAA: 498/3708)

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

Submission ignored due to conflicting rows:
Row 24866589 (NC_000008.10:146112639:AAA: 1901/3708)
Row 24866590 (NC_000008.10:146112638:AAAAA: 1130/3708)
Row 24866591 (NC_000008.10:146112637:AAAAAAA: 498/3708)

- Oct 12, 2018 (152)
134 ALFA NC_000008.11 - 144887253 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)
rs68148141 Apr 25, 2013 (138)
rs68148142 Feb 27, 2009 (130)
rs68148143 Feb 27, 2009 (130)
rs148181189 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
ss4195789457 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAA:

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4195789456 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAA:

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4195789455 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAA:

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4195789454 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAA:

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4195789453 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAA:

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5191608729 NC_000008.10:146112637:AAAAAAAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4195789452 NC_000008.11:144887252:AAAAAAAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
44680367, ss1368139858, ss5191608727 NC_000008.10:146112637:AAAAAAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3811940763, ss4195789451, ss5279422556, ss5475750939, ss5734525919 NC_000008.11:144887252:AAAAAAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4195789450 NC_000008.11:144887252:AAAAAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3723275554, ss4195789449 NC_000008.11:144887252:AAAAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss1706294368, ss1706294494, ss3004216751 NC_000008.10:146112637:AAAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3723275553 NC_000008.11:144887253:AAAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss82124632 NC_000008.9:146083463:AAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss1710409712, ss1710409785 NC_000008.10:146112638:AAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789448, ss5279422557, ss5475750938 NC_000008.11:144887252:AAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3723275552 NC_000008.11:144887254:AAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss79925265, ss295405997 NC_000008.9:146083464:AAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
9503459, ss3736218594, ss3786318849, ss3791548203, ss3796429833, ss3831482950, ss5191608728 NC_000008.10:146112637:AAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000008.10:146112638:AAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss1710409709, ss1710409784 NC_000008.10:146112639:AAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789447, ss5475750936, ss5734525920 NC_000008.11:144887252:AAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3723275551 NC_000008.11:144887255:AAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss95508388, ss98034565 NT_037704.5:680072:AAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5191608732 NC_000008.10:146112637:AAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5279422553, ss5475750937, ss5734525923 NC_000008.11:144887252:AAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3723275550 NC_000008.11:144887256:AAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000008.10:146112639:AAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789446 NC_000008.11:144887252:AAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3723275549 NC_000008.11:144887257:AAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789445, ss5279422555 NC_000008.11:144887252:AA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3791548204, ss3796429834, ss5191608731 NC_000008.10:146112637:A: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5734525922 NC_000008.11:144887252:A: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5191608730 NC_000008.10:146112637::A NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789425, ss5279422554, ss5475750940, ss5734525921 NC_000008.11:144887252::A NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789426 NC_000008.11:144887252::AA NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789427 NC_000008.11:144887252::AAAA NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789428 NC_000008.11:144887252::AAAAA NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789429 NC_000008.11:144887252::AAAAAAA NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789430 NC_000008.11:144887252::AAAAAAAA NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789431 NC_000008.11:144887252::AAAAAAAAA NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789432 NC_000008.11:144887252::AAAAAAAAAA NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789433 NC_000008.11:144887252::AAAAAAAAAAA NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789434 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789435 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789436 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789437 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789438 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4223573900 NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789439 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789440 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789441 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789442 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789443 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4195789444 NC_000008.11:144887252::AAAAAAAAAA…

NC_000008.11:144887252::AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3579239729 NC_000008.11:144887252::AAA NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

ss3579239732 NC_000008.11:144887252::AAAAAA NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

ss3579239746 NC_000008.11:144887252:AAAAAAA: NC_000008.11:144887252:AAAAAAAAAAA…

NC_000008.11:144887252:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

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 rs56677445

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