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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.

rs56070053

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:112471455-112471491 (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(GA)8 / del(GA)7 / del(GA)6 / d…

del(GA)8 / del(GA)7 / del(GA)6 / del(GA)5 / del(GA)4 / del(GA)3 / delGAGA / delGA / dupGA / dupGAGA / dup(GA)3 / dup(GA)4 / dup(GA)5 / dup(GA)6 / dup(GA)7 / dup(GA)8 / dup(GA)9 / dup(GA)10 / dup(GA)11 / dup(GA)15

Variation Type
Indel Insertion and Deletion
Frequency
dupGAGA=0.01741 (224/12866, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PTPN11 : Intron Variant
LOC124903023 : 2KB Upstream 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 12866 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.95803 AGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00295, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00482, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.01415, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.01741, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00132, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00132, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000 0.969933 0.003738 0.026329 32
European Sub 11368 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.95276 AGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00334, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00545, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.01592, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.01953, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00150, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00150, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00000 0.965957 0.00407 0.029972 32
African Sub 846 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=1.000 AGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000 1.0 0.0 0.0 N/A
African Others Sub 36 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=1.00 AGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00 1.0 0.0 0.0 N/A
African American Sub 810 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=1.000 AGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000 1.0 0.0 0.0 N/A
Asian Sub 10 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=1.0 AGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 8 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=1.0 AGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=1.0 AGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 70 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=1.00 AGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 270 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=1.000 AGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 40 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=1.00 AGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.00 1.0 0.0 0.0 N/A
Other Sub 262 AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.989 AGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.004, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.008, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA=0.000 0.992308 0.007692 0.0 32


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 12866 (AG)18A=0.95803 del(GA)8=0.00000, del(GA)7=0.00000, del(GA)6=0.00000, del(GA)5=0.00000, del(GA)4=0.00000, del(GA)3=0.00000, delGAGA=0.00295, delGA=0.00482, dupGA=0.01415, dupGAGA=0.01741, dup(GA)3=0.00000, dup(GA)4=0.00000, dup(GA)5=0.00000, dup(GA)6=0.00132, dup(GA)7=0.00000, dup(GA)8=0.00132, dup(GA)9=0.00000, dup(GA)10=0.00000, dup(GA)11=0.00000
Allele Frequency Aggregator European Sub 11368 (AG)18A=0.95276 del(GA)8=0.00000, del(GA)7=0.00000, del(GA)6=0.00000, del(GA)5=0.00000, del(GA)4=0.00000, del(GA)3=0.00000, delGAGA=0.00334, delGA=0.00545, dupGA=0.01592, dupGAGA=0.01953, dup(GA)3=0.00000, dup(GA)4=0.00000, dup(GA)5=0.00000, dup(GA)6=0.00150, dup(GA)7=0.00000, dup(GA)8=0.00150, dup(GA)9=0.00000, dup(GA)10=0.00000, dup(GA)11=0.00000
Allele Frequency Aggregator African Sub 846 (AG)18A=1.000 del(GA)8=0.000, del(GA)7=0.000, del(GA)6=0.000, del(GA)5=0.000, del(GA)4=0.000, del(GA)3=0.000, delGAGA=0.000, delGA=0.000, dupGA=0.000, dupGAGA=0.000, dup(GA)3=0.000, dup(GA)4=0.000, dup(GA)5=0.000, dup(GA)6=0.000, dup(GA)7=0.000, dup(GA)8=0.000, dup(GA)9=0.000, dup(GA)10=0.000, dup(GA)11=0.000
Allele Frequency Aggregator Latin American 2 Sub 270 (AG)18A=1.000 del(GA)8=0.000, del(GA)7=0.000, del(GA)6=0.000, del(GA)5=0.000, del(GA)4=0.000, del(GA)3=0.000, delGAGA=0.000, delGA=0.000, dupGA=0.000, dupGAGA=0.000, dup(GA)3=0.000, dup(GA)4=0.000, dup(GA)5=0.000, dup(GA)6=0.000, dup(GA)7=0.000, dup(GA)8=0.000, dup(GA)9=0.000, dup(GA)10=0.000, dup(GA)11=0.000
Allele Frequency Aggregator Other Sub 262 (AG)18A=0.989 del(GA)8=0.000, del(GA)7=0.000, del(GA)6=0.000, del(GA)5=0.000, del(GA)4=0.000, del(GA)3=0.000, delGAGA=0.000, delGA=0.000, dupGA=0.004, dupGAGA=0.008, dup(GA)3=0.000, dup(GA)4=0.000, dup(GA)5=0.000, dup(GA)6=0.000, dup(GA)7=0.000, dup(GA)8=0.000, dup(GA)9=0.000, dup(GA)10=0.000, dup(GA)11=0.000
Allele Frequency Aggregator Latin American 1 Sub 70 (AG)18A=1.00 del(GA)8=0.00, del(GA)7=0.00, del(GA)6=0.00, del(GA)5=0.00, del(GA)4=0.00, del(GA)3=0.00, delGAGA=0.00, delGA=0.00, dupGA=0.00, dupGAGA=0.00, dup(GA)3=0.00, dup(GA)4=0.00, dup(GA)5=0.00, dup(GA)6=0.00, dup(GA)7=0.00, dup(GA)8=0.00, dup(GA)9=0.00, dup(GA)10=0.00, dup(GA)11=0.00
Allele Frequency Aggregator South Asian Sub 40 (AG)18A=1.00 del(GA)8=0.00, del(GA)7=0.00, del(GA)6=0.00, del(GA)5=0.00, del(GA)4=0.00, del(GA)3=0.00, delGAGA=0.00, delGA=0.00, dupGA=0.00, dupGAGA=0.00, dup(GA)3=0.00, dup(GA)4=0.00, dup(GA)5=0.00, dup(GA)6=0.00, dup(GA)7=0.00, dup(GA)8=0.00, dup(GA)9=0.00, dup(GA)10=0.00, dup(GA)11=0.00
Allele Frequency Aggregator Asian Sub 10 (AG)18A=1.0 del(GA)8=0.0, del(GA)7=0.0, del(GA)6=0.0, del(GA)5=0.0, del(GA)4=0.0, del(GA)3=0.0, delGAGA=0.0, delGA=0.0, dupGA=0.0, dupGAGA=0.0, dup(GA)3=0.0, dup(GA)4=0.0, dup(GA)5=0.0, dup(GA)6=0.0, dup(GA)7=0.0, dup(GA)8=0.0, dup(GA)9=0.0, dup(GA)10=0.0, dup(GA)11=0.0
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 12 NC_000012.12:g.112471456GA[10]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[11]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[12]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[13]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[14]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[15]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[16]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[17]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[19]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[20]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[21]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[22]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[23]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[24]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[25]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[26]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[27]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[28]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[29]
GRCh38.p14 chr 12 NC_000012.12:g.112471456GA[33]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[10]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[11]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[12]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[13]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[14]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[15]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[16]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[17]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[19]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[20]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[21]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[22]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[23]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[24]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[25]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[26]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[27]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[28]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[29]
GRCh37.p13 chr 12 NC_000012.11:g.112909260GA[33]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[10]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[11]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[12]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[13]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[14]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[15]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[16]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[17]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[19]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[20]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[21]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[22]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[23]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[24]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[25]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[26]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[27]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[28]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[29]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57725GA[33]
Gene: PTPN11, protein tyrosine phosphatase non-receptor type 11 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PTPN11 transcript variant 3 NM_001330437.2:c.757-1489…

NM_001330437.2:c.757-1489AG[10]

N/A Intron Variant
PTPN11 transcript variant 4 NM_001374625.1:c.754-1489…

NM_001374625.1:c.754-1489AG[10]

N/A Intron Variant
PTPN11 transcript variant 1 NM_002834.5:c.757-1489AG[…

NM_002834.5:c.757-1489AG[10]

N/A Intron Variant
PTPN11 transcript variant 2 NM_080601.3:c.757-1489AG[…

NM_080601.3:c.757-1489AG[10]

N/A Intron Variant
PTPN11 transcript variant X1 XM_011538613.3:c.754-1489…

XM_011538613.3:c.754-1489AG[10]

N/A Intron Variant
Gene: LOC124903023, uncharacterized LOC124903023 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC124903023 transcript XR_007063466.1:n. N/A Upstream Transcript 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 (AG)18A= del(GA)8 del(GA)7 del(GA)6 del(GA)5 del(GA)4 del(GA)3 delGAGA delGA dupGA dupGAGA dup(GA)3 dup(GA)4 dup(GA)5 dup(GA)6 dup(GA)7 dup(GA)8 dup(GA)9 dup(GA)10 dup(GA)11 dup(GA)15
GRCh38.p14 chr 12 NC_000012.12:g.112471455_112471491= NC_000012.12:g.112471456GA[10] NC_000012.12:g.112471456GA[11] NC_000012.12:g.112471456GA[12] NC_000012.12:g.112471456GA[13] NC_000012.12:g.112471456GA[14] NC_000012.12:g.112471456GA[15] NC_000012.12:g.112471456GA[16] NC_000012.12:g.112471456GA[17] NC_000012.12:g.112471456GA[19] NC_000012.12:g.112471456GA[20] NC_000012.12:g.112471456GA[21] NC_000012.12:g.112471456GA[22] NC_000012.12:g.112471456GA[23] NC_000012.12:g.112471456GA[24] NC_000012.12:g.112471456GA[25] NC_000012.12:g.112471456GA[26] NC_000012.12:g.112471456GA[27] NC_000012.12:g.112471456GA[28] NC_000012.12:g.112471456GA[29] NC_000012.12:g.112471456GA[33]
GRCh37.p13 chr 12 NC_000012.11:g.112909259_112909295= NC_000012.11:g.112909260GA[10] NC_000012.11:g.112909260GA[11] NC_000012.11:g.112909260GA[12] NC_000012.11:g.112909260GA[13] NC_000012.11:g.112909260GA[14] NC_000012.11:g.112909260GA[15] NC_000012.11:g.112909260GA[16] NC_000012.11:g.112909260GA[17] NC_000012.11:g.112909260GA[19] NC_000012.11:g.112909260GA[20] NC_000012.11:g.112909260GA[21] NC_000012.11:g.112909260GA[22] NC_000012.11:g.112909260GA[23] NC_000012.11:g.112909260GA[24] NC_000012.11:g.112909260GA[25] NC_000012.11:g.112909260GA[26] NC_000012.11:g.112909260GA[27] NC_000012.11:g.112909260GA[28] NC_000012.11:g.112909260GA[29] NC_000012.11:g.112909260GA[33]
PTPN11 RefSeqGene (LRG_614) NG_007459.1:g.57724_57760= NG_007459.1:g.57725GA[10] NG_007459.1:g.57725GA[11] NG_007459.1:g.57725GA[12] NG_007459.1:g.57725GA[13] NG_007459.1:g.57725GA[14] NG_007459.1:g.57725GA[15] NG_007459.1:g.57725GA[16] NG_007459.1:g.57725GA[17] NG_007459.1:g.57725GA[19] NG_007459.1:g.57725GA[20] NG_007459.1:g.57725GA[21] NG_007459.1:g.57725GA[22] NG_007459.1:g.57725GA[23] NG_007459.1:g.57725GA[24] NG_007459.1:g.57725GA[25] NG_007459.1:g.57725GA[26] NG_007459.1:g.57725GA[27] NG_007459.1:g.57725GA[28] NG_007459.1:g.57725GA[29] NG_007459.1:g.57725GA[33]
PTPN11 transcript variant 3 NM_001330437.2:c.757-1489= NM_001330437.2:c.757-1489AG[10] NM_001330437.2:c.757-1489AG[11] NM_001330437.2:c.757-1489AG[12] NM_001330437.2:c.757-1489AG[13] NM_001330437.2:c.757-1489AG[14] NM_001330437.2:c.757-1489AG[15] NM_001330437.2:c.757-1489AG[16] NM_001330437.2:c.757-1489AG[17] NM_001330437.2:c.757-1489AG[19] NM_001330437.2:c.757-1489AG[20] NM_001330437.2:c.757-1489AG[21] NM_001330437.2:c.757-1489AG[22] NM_001330437.2:c.757-1489AG[23] NM_001330437.2:c.757-1489AG[24] NM_001330437.2:c.757-1489AG[25] NM_001330437.2:c.757-1489AG[26] NM_001330437.2:c.757-1489AG[27] NM_001330437.2:c.757-1489AG[28] NM_001330437.2:c.757-1489AG[29] NM_001330437.2:c.757-1489AG[33]
PTPN11 transcript variant 4 NM_001374625.1:c.754-1489= NM_001374625.1:c.754-1489AG[10] NM_001374625.1:c.754-1489AG[11] NM_001374625.1:c.754-1489AG[12] NM_001374625.1:c.754-1489AG[13] NM_001374625.1:c.754-1489AG[14] NM_001374625.1:c.754-1489AG[15] NM_001374625.1:c.754-1489AG[16] NM_001374625.1:c.754-1489AG[17] NM_001374625.1:c.754-1489AG[19] NM_001374625.1:c.754-1489AG[20] NM_001374625.1:c.754-1489AG[21] NM_001374625.1:c.754-1489AG[22] NM_001374625.1:c.754-1489AG[23] NM_001374625.1:c.754-1489AG[24] NM_001374625.1:c.754-1489AG[25] NM_001374625.1:c.754-1489AG[26] NM_001374625.1:c.754-1489AG[27] NM_001374625.1:c.754-1489AG[28] NM_001374625.1:c.754-1489AG[29] NM_001374625.1:c.754-1489AG[33]
PTPN11 transcript variant 1 NM_002834.3:c.757-1489= NM_002834.3:c.757-1489AG[10] NM_002834.3:c.757-1489AG[11] NM_002834.3:c.757-1489AG[12] NM_002834.3:c.757-1489AG[13] NM_002834.3:c.757-1489AG[14] NM_002834.3:c.757-1489AG[15] NM_002834.3:c.757-1489AG[16] NM_002834.3:c.757-1489AG[17] NM_002834.3:c.757-1489AG[19] NM_002834.3:c.757-1489AG[20] NM_002834.3:c.757-1489AG[21] NM_002834.3:c.757-1489AG[22] NM_002834.3:c.757-1489AG[23] NM_002834.3:c.757-1489AG[24] NM_002834.3:c.757-1489AG[25] NM_002834.3:c.757-1489AG[26] NM_002834.3:c.757-1489AG[27] NM_002834.3:c.757-1489AG[28] NM_002834.3:c.757-1489AG[29] NM_002834.3:c.757-1489AG[33]
PTPN11 transcript variant 1 NM_002834.5:c.757-1489= NM_002834.5:c.757-1489AG[10] NM_002834.5:c.757-1489AG[11] NM_002834.5:c.757-1489AG[12] NM_002834.5:c.757-1489AG[13] NM_002834.5:c.757-1489AG[14] NM_002834.5:c.757-1489AG[15] NM_002834.5:c.757-1489AG[16] NM_002834.5:c.757-1489AG[17] NM_002834.5:c.757-1489AG[19] NM_002834.5:c.757-1489AG[20] NM_002834.5:c.757-1489AG[21] NM_002834.5:c.757-1489AG[22] NM_002834.5:c.757-1489AG[23] NM_002834.5:c.757-1489AG[24] NM_002834.5:c.757-1489AG[25] NM_002834.5:c.757-1489AG[26] NM_002834.5:c.757-1489AG[27] NM_002834.5:c.757-1489AG[28] NM_002834.5:c.757-1489AG[29] NM_002834.5:c.757-1489AG[33]
PTPN11 transcript variant 2 NM_080601.1:c.757-1489= NM_080601.1:c.757-1489AG[10] NM_080601.1:c.757-1489AG[11] NM_080601.1:c.757-1489AG[12] NM_080601.1:c.757-1489AG[13] NM_080601.1:c.757-1489AG[14] NM_080601.1:c.757-1489AG[15] NM_080601.1:c.757-1489AG[16] NM_080601.1:c.757-1489AG[17] NM_080601.1:c.757-1489AG[19] NM_080601.1:c.757-1489AG[20] NM_080601.1:c.757-1489AG[21] NM_080601.1:c.757-1489AG[22] NM_080601.1:c.757-1489AG[23] NM_080601.1:c.757-1489AG[24] NM_080601.1:c.757-1489AG[25] NM_080601.1:c.757-1489AG[26] NM_080601.1:c.757-1489AG[27] NM_080601.1:c.757-1489AG[28] NM_080601.1:c.757-1489AG[29] NM_080601.1:c.757-1489AG[33]
PTPN11 transcript variant 2 NM_080601.3:c.757-1489= NM_080601.3:c.757-1489AG[10] NM_080601.3:c.757-1489AG[11] NM_080601.3:c.757-1489AG[12] NM_080601.3:c.757-1489AG[13] NM_080601.3:c.757-1489AG[14] NM_080601.3:c.757-1489AG[15] NM_080601.3:c.757-1489AG[16] NM_080601.3:c.757-1489AG[17] NM_080601.3:c.757-1489AG[19] NM_080601.3:c.757-1489AG[20] NM_080601.3:c.757-1489AG[21] NM_080601.3:c.757-1489AG[22] NM_080601.3:c.757-1489AG[23] NM_080601.3:c.757-1489AG[24] NM_080601.3:c.757-1489AG[25] NM_080601.3:c.757-1489AG[26] NM_080601.3:c.757-1489AG[27] NM_080601.3:c.757-1489AG[28] NM_080601.3:c.757-1489AG[29] NM_080601.3:c.757-1489AG[33]
PTPN11 transcript variant X1 XM_011538613.3:c.754-1489= XM_011538613.3:c.754-1489AG[10] XM_011538613.3:c.754-1489AG[11] XM_011538613.3:c.754-1489AG[12] XM_011538613.3:c.754-1489AG[13] XM_011538613.3:c.754-1489AG[14] XM_011538613.3:c.754-1489AG[15] XM_011538613.3:c.754-1489AG[16] XM_011538613.3:c.754-1489AG[17] XM_011538613.3:c.754-1489AG[19] XM_011538613.3:c.754-1489AG[20] XM_011538613.3:c.754-1489AG[21] XM_011538613.3:c.754-1489AG[22] XM_011538613.3:c.754-1489AG[23] XM_011538613.3:c.754-1489AG[24] XM_011538613.3:c.754-1489AG[25] XM_011538613.3:c.754-1489AG[26] XM_011538613.3:c.754-1489AG[27] XM_011538613.3:c.754-1489AG[28] XM_011538613.3:c.754-1489AG[29] XM_011538613.3:c.754-1489AG[33]
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#.

71 SubSNP, 38 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss77881032 Dec 04, 2013 (138)
2 HGSV ss82885423 Dec 15, 2007 (129)
3 GMI ss289152666 Jan 10, 2018 (151)
4 GMI ss289152667 May 04, 2012 (137)
5 1000GENOMES ss327580221 Jan 10, 2018 (151)
6 LUNTER ss552252788 Jan 10, 2018 (151)
7 SSMP ss664090652 Apr 01, 2015 (144)
8 SWEGEN ss3010364350 Nov 08, 2017 (151)
9 MCHAISSO ss3063746230 Jan 10, 2018 (151)
10 MCHAISSO ss3065498107 Nov 08, 2017 (151)
11 MCHAISSO ss3065498108 Jan 10, 2018 (151)
12 EVA_DECODE ss3694484697 Jul 13, 2019 (153)
13 EVA_DECODE ss3694484698 Jul 13, 2019 (153)
14 EVA_DECODE ss3694484699 Jul 13, 2019 (153)
15 EVA_DECODE ss3694484700 Jul 13, 2019 (153)
16 EVA_DECODE ss3694484701 Jul 13, 2019 (153)
17 EVA_DECODE ss3694484702 Jul 13, 2019 (153)
18 KHV_HUMAN_GENOMES ss3816307596 Jul 13, 2019 (153)
19 KHV_HUMAN_GENOMES ss3816307597 Jul 13, 2019 (153)
20 EVA ss3833329922 Apr 27, 2020 (154)
21 KOGIC ss3972749006 Apr 27, 2020 (154)
22 KOGIC ss3972749007 Apr 27, 2020 (154)
23 KOGIC ss3972749008 Apr 27, 2020 (154)
24 KOGIC ss3972749009 Apr 27, 2020 (154)
25 KOGIC ss3972749010 Apr 27, 2020 (154)
26 KOGIC ss3972749011 Apr 27, 2020 (154)
27 GNOMAD ss4259201329 Apr 26, 2021 (155)
28 GNOMAD ss4259201330 Apr 26, 2021 (155)
29 GNOMAD ss4259201331 Apr 26, 2021 (155)
30 GNOMAD ss4259201332 Apr 26, 2021 (155)
31 GNOMAD ss4259201333 Apr 26, 2021 (155)
32 GNOMAD ss4259201334 Apr 26, 2021 (155)
33 GNOMAD ss4259201335 Apr 26, 2021 (155)
34 GNOMAD ss4259201336 Apr 26, 2021 (155)
35 GNOMAD ss4259201337 Apr 26, 2021 (155)
36 GNOMAD ss4259201338 Apr 26, 2021 (155)
37 GNOMAD ss4259201339 Apr 26, 2021 (155)
38 GNOMAD ss4259201340 Apr 26, 2021 (155)
39 GNOMAD ss4259201342 Apr 26, 2021 (155)
40 GNOMAD ss4259201343 Apr 26, 2021 (155)
41 GNOMAD ss4259201344 Apr 26, 2021 (155)
42 GNOMAD ss4259201345 Apr 26, 2021 (155)
43 GNOMAD ss4259201346 Apr 26, 2021 (155)
44 GNOMAD ss4259201347 Apr 26, 2021 (155)
45 GNOMAD ss4259201348 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5208211364 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5208211365 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5208211366 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5208211367 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5208211368 Apr 26, 2021 (155)
51 TOMMO_GENOMICS ss5208211369 Apr 26, 2021 (155)
52 1000G_HIGH_COVERAGE ss5292266843 Oct 16, 2022 (156)
53 1000G_HIGH_COVERAGE ss5292266844 Oct 16, 2022 (156)
54 1000G_HIGH_COVERAGE ss5292266845 Oct 16, 2022 (156)
55 1000G_HIGH_COVERAGE ss5292266846 Oct 16, 2022 (156)
56 1000G_HIGH_COVERAGE ss5292266847 Oct 16, 2022 (156)
57 1000G_HIGH_COVERAGE ss5292266848 Oct 16, 2022 (156)
58 HUGCELL_USP ss5486866476 Oct 16, 2022 (156)
59 HUGCELL_USP ss5486866477 Oct 16, 2022 (156)
60 HUGCELL_USP ss5486866478 Oct 16, 2022 (156)
61 HUGCELL_USP ss5486866479 Oct 16, 2022 (156)
62 HUGCELL_USP ss5486866480 Oct 16, 2022 (156)
63 HUGCELL_USP ss5486866481 Oct 16, 2022 (156)
64 TOMMO_GENOMICS ss5758550664 Oct 16, 2022 (156)
65 TOMMO_GENOMICS ss5758550665 Oct 16, 2022 (156)
66 TOMMO_GENOMICS ss5758550666 Oct 16, 2022 (156)
67 TOMMO_GENOMICS ss5758550667 Oct 16, 2022 (156)
68 TOMMO_GENOMICS ss5758550668 Oct 16, 2022 (156)
69 TOMMO_GENOMICS ss5758550669 Oct 16, 2022 (156)
70 EVA ss5838526790 Oct 16, 2022 (156)
71 EVA ss5838526791 Oct 16, 2022 (156)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 419639610 (NC_000012.12:112471454::AG 15046/116252)
Row 419639611 (NC_000012.12:112471454::AGAG 7687/116270)
Row 419639612 (NC_000012.12:112471454::AGAGAG 2899/116336)...

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

Submission ignored due to conflicting rows:
Row 29127007 (NC_000012.12:112471458::AG 608/1830)
Row 29127008 (NC_000012.12:112471458::AGAGAGAG 35/1830)
Row 29127009 (NC_000012.12:112471458::AGAG 340/1830)...

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

Submission ignored due to conflicting rows:
Row 29127007 (NC_000012.12:112471458::AG 608/1830)
Row 29127008 (NC_000012.12:112471458::AGAGAGAG 35/1830)
Row 29127009 (NC_000012.12:112471458::AGAG 340/1830)...

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

Submission ignored due to conflicting rows:
Row 29127007 (NC_000012.12:112471458::AG 608/1830)
Row 29127008 (NC_000012.12:112471458::AGAGAGAG 35/1830)
Row 29127009 (NC_000012.12:112471458::AGAG 340/1830)...

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

Submission ignored due to conflicting rows:
Row 29127007 (NC_000012.12:112471458::AG 608/1830)
Row 29127008 (NC_000012.12:112471458::AGAGAGAG 35/1830)
Row 29127009 (NC_000012.12:112471458::AGAG 340/1830)...

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

Submission ignored due to conflicting rows:
Row 29127007 (NC_000012.12:112471458::AG 608/1830)
Row 29127008 (NC_000012.12:112471458::AGAGAGAG 35/1830)
Row 29127009 (NC_000012.12:112471458::AGAG 340/1830)...

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

Submission ignored due to conflicting rows:
Row 29127007 (NC_000012.12:112471458::AG 608/1830)
Row 29127008 (NC_000012.12:112471458::AGAGAGAG 35/1830)
Row 29127009 (NC_000012.12:112471458::AGAG 340/1830)...

- Apr 27, 2020 (154)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 66180671 (NC_000012.11:112909258:AG: 679/16750)
Row 66180672 (NC_000012.11:112909258::AGAG 3921/16750)
Row 66180673 (NC_000012.11:112909258::AG 5487/16750)...

- Apr 26, 2021 (155)
98 8.3KJPN

Submission ignored due to conflicting rows:
Row 66180671 (NC_000012.11:112909258:AG: 679/16750)
Row 66180672 (NC_000012.11:112909258::AGAG 3921/16750)
Row 66180673 (NC_000012.11:112909258::AG 5487/16750)...

- Apr 26, 2021 (155)
99 8.3KJPN

Submission ignored due to conflicting rows:
Row 66180671 (NC_000012.11:112909258:AG: 679/16750)
Row 66180672 (NC_000012.11:112909258::AGAG 3921/16750)
Row 66180673 (NC_000012.11:112909258::AG 5487/16750)...

- Apr 26, 2021 (155)
100 8.3KJPN

Submission ignored due to conflicting rows:
Row 66180671 (NC_000012.11:112909258:AG: 679/16750)
Row 66180672 (NC_000012.11:112909258::AGAG 3921/16750)
Row 66180673 (NC_000012.11:112909258::AG 5487/16750)...

- Apr 26, 2021 (155)
101 8.3KJPN

Submission ignored due to conflicting rows:
Row 66180671 (NC_000012.11:112909258:AG: 679/16750)
Row 66180672 (NC_000012.11:112909258::AGAG 3921/16750)
Row 66180673 (NC_000012.11:112909258::AG 5487/16750)...

- Apr 26, 2021 (155)
102 8.3KJPN

Submission ignored due to conflicting rows:
Row 66180671 (NC_000012.11:112909258:AG: 679/16750)
Row 66180672 (NC_000012.11:112909258::AGAG 3921/16750)
Row 66180673 (NC_000012.11:112909258::AG 5487/16750)...

- Apr 26, 2021 (155)
103 14KJPN

Submission ignored due to conflicting rows:
Row 92387768 (NC_000012.12:112471454::AGAG 6619/28256)
Row 92387769 (NC_000012.12:112471454::AG 9338/28256)
Row 92387770 (NC_000012.12:112471454:AG: 1170/28256)...

- Oct 16, 2022 (156)
104 14KJPN

Submission ignored due to conflicting rows:
Row 92387768 (NC_000012.12:112471454::AGAG 6619/28256)
Row 92387769 (NC_000012.12:112471454::AG 9338/28256)
Row 92387770 (NC_000012.12:112471454:AG: 1170/28256)...

- Oct 16, 2022 (156)
105 14KJPN

Submission ignored due to conflicting rows:
Row 92387768 (NC_000012.12:112471454::AGAG 6619/28256)
Row 92387769 (NC_000012.12:112471454::AG 9338/28256)
Row 92387770 (NC_000012.12:112471454:AG: 1170/28256)...

- Oct 16, 2022 (156)
106 14KJPN

Submission ignored due to conflicting rows:
Row 92387768 (NC_000012.12:112471454::AGAG 6619/28256)
Row 92387769 (NC_000012.12:112471454::AG 9338/28256)
Row 92387770 (NC_000012.12:112471454:AG: 1170/28256)...

- Oct 16, 2022 (156)
107 14KJPN

Submission ignored due to conflicting rows:
Row 92387768 (NC_000012.12:112471454::AGAG 6619/28256)
Row 92387769 (NC_000012.12:112471454::AG 9338/28256)
Row 92387770 (NC_000012.12:112471454:AG: 1170/28256)...

- Oct 16, 2022 (156)
108 14KJPN

Submission ignored due to conflicting rows:
Row 92387768 (NC_000012.12:112471454::AGAG 6619/28256)
Row 92387769 (NC_000012.12:112471454::AG 9338/28256)
Row 92387770 (NC_000012.12:112471454:AG: 1170/28256)...

- Oct 16, 2022 (156)
109 ALFA NC_000012.12 - 112471455 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)
rs72435513 May 15, 2013 (138)
rs148111077 May 11, 2012 (137)
rs372565060 May 13, 2013 (138)
rs796860318 Nov 08, 2017 (151)
rs72033463 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4259201348 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAG:

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201347 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAG:

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201346 NC_000012.12:112471454:AGAGAGAGAG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201345 NC_000012.12:112471454:AGAGAGAG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3065498107, ss3694484702, ss4259201344 NC_000012.12:112471454:AGAGAG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss82885423 NC_000012.9:111372011:GAGA: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3010364350, ss5208211368 NC_000012.11:112909258:AGAG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3816307596, ss3972749009, ss4259201343, ss5292266847, ss5486866479, ss5758550668 NC_000012.12:112471454:AGAG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3694484701 NC_000012.12:112471456:AGAG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss289152666, ss327580221, ss552252788 NC_000012.10:111393641:AG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3833329922, ss5208211364, ss5838526790 NC_000012.11:112909258:AG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3063746230, ss3065498108, ss4259201342, ss5292266845, ss5486866476, ss5758550666 NC_000012.12:112471454:AG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3972749010 NC_000012.12:112471456:AG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3694484700 NC_000012.12:112471458:AG: NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss289152667 NC_000012.10:111393678::GA NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss664090652, ss5208211366, ss5838526791 NC_000012.11:112909258::AG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201329, ss5292266843, ss5486866477, ss5758550665 NC_000012.12:112471454::AG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3816307597, ss3972749006 NC_000012.12:112471458::AG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3694484699 NC_000012.12:112471460::AG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss77881032 NT_009775.17:3485825::GA NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss5208211365 NC_000012.11:112909258::AGAG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201330, ss5292266844, ss5486866478, ss5758550664 NC_000012.12:112471454::AGAG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3972749008 NC_000012.12:112471458::AGAG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3694484698 NC_000012.12:112471460::AGAG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201331, ss5292266848, ss5486866481 NC_000012.12:112471454::AGAGAG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3694484697 NC_000012.12:112471460::AGAGAG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss5208211369 NC_000012.11:112909258::AGAGAGAG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201332, ss5292266846, ss5758550667 NC_000012.12:112471454::AGAGAGAG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3972749007 NC_000012.12:112471458::AGAGAGAG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201333, ss5486866480 NC_000012.12:112471454::AGAGAGAGAG NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss5208211367 NC_000012.11:112909258::AGAGAGAGAG…

NC_000012.11:112909258::AGAGAGAGAGAG

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201334, ss5758550669 NC_000012.12:112471454::AGAGAGAGAG…

NC_000012.12:112471454::AGAGAGAGAGAG

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss3972749011 NC_000012.12:112471458::AGAGAGAGAG…

NC_000012.12:112471458::AGAGAGAGAGAG

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201335 NC_000012.12:112471454::AGAGAGAGAG…

NC_000012.12:112471454::AGAGAGAGAGAGAG

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201336 NC_000012.12:112471454::AGAGAGAGAG…

NC_000012.12:112471454::AGAGAGAGAGAGAGAG

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201337 NC_000012.12:112471454::AGAGAGAGAG…

NC_000012.12:112471454::AGAGAGAGAGAGAGAGAG

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201338 NC_000012.12:112471454::AGAGAGAGAG…

NC_000012.12:112471454::AGAGAGAGAGAGAGAGAGAG

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201339 NC_000012.12:112471454::AGAGAGAGAG…

NC_000012.12:112471454::AGAGAGAGAGAGAGAGAGAGAG

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
9709734494 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
ss4259201340 NC_000012.12:112471454::AGAGAGAGAG…

NC_000012.12:112471454::AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3181934130 NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAG:

NC_000012.12:112471454:AGAGAGAGAGA…

NC_000012.12:112471454:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA

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 rs56070053

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