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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.

rs71123312

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:92041570-92041593 (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)13 / del(A)11 / del(A)10 / d…

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

Variation Type
Indel Insertion and Deletion
Frequency
del(A)13=0.0000 (0/1546, ALFA)
del(A)10=0.0000 (0/1546, ALFA)
del(A)9=0.0000 (0/1546, ALFA) (+ 26 more)
del(A)8=0.0000 (0/1546, ALFA)
del(A)7=0.0000 (0/1546, ALFA)
del(A)6=0.0000 (0/1546, ALFA)
del(A)5=0.0000 (0/1546, ALFA)
del(A)4=0.0000 (0/1546, ALFA)
delAAA=0.0000 (0/1546, ALFA)
delAA=0.0000 (0/1546, ALFA)
delA=0.0000 (0/1546, ALFA)
dupA=0.0000 (0/1546, ALFA)
dupAA=0.0000 (0/1546, ALFA)
dupAAA=0.0000 (0/1546, ALFA)
dup(A)4=0.0000 (0/1546, ALFA)
dup(A)5=0.0000 (0/1546, ALFA)
dup(A)6=0.0000 (0/1546, ALFA)
dup(A)7=0.0000 (0/1546, ALFA)
dup(A)8=0.0000 (0/1546, ALFA)
dup(A)9=0.0000 (0/1546, ALFA)
dup(A)10=0.0000 (0/1546, ALFA)
dup(A)11=0.0000 (0/1546, ALFA)
dup(A)12=0.0000 (0/1546, ALFA)
dup(A)13=0.0000 (0/1546, ALFA)
dup(A)14=0.0000 (0/1546, ALFA)
dup(A)15=0.0000 (0/1546, ALFA)
dup(A)16=0.0000 (0/1546, ALFA)
dup(A)17=0.0000 (0/1546, ALFA)
dup(A)19=0.0000 (0/1546, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TRIP11 : 2KB Upstream Variant
LOC124903363 : 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 1546 AAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 750 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 648 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 30 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 618 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 12 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 6 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 6 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 10 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 32 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 24 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 70 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 1546 (A)24=1.0000 del(A)13=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)13=0.0000, dup(A)14=0.0000, dup(A)15=0.0000, dup(A)16=0.0000, dup(A)17=0.0000, dup(A)19=0.0000
Allele Frequency Aggregator European Sub 750 (A)24=1.000 del(A)13=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)13=0.000, dup(A)14=0.000, dup(A)15=0.000, dup(A)16=0.000, dup(A)17=0.000, dup(A)19=0.000
Allele Frequency Aggregator African Sub 648 (A)24=1.000 del(A)13=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)13=0.000, dup(A)14=0.000, dup(A)15=0.000, dup(A)16=0.000, dup(A)17=0.000, dup(A)19=0.000
Allele Frequency Aggregator Other Sub 70 (A)24=1.00 del(A)13=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)13=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00, dup(A)17=0.00, dup(A)19=0.00
Allele Frequency Aggregator Latin American 2 Sub 32 (A)24=1.00 del(A)13=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)13=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00, dup(A)17=0.00, dup(A)19=0.00
Allele Frequency Aggregator South Asian Sub 24 (A)24=1.00 del(A)13=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)13=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00, dup(A)17=0.00, dup(A)19=0.00
Allele Frequency Aggregator Asian Sub 12 (A)24=1.00 del(A)13=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)13=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00, dup(A)17=0.00, dup(A)19=0.00
Allele Frequency Aggregator Latin American 1 Sub 10 (A)24=1.0 del(A)13=0.0, del(A)10=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0, dup(A)5=0.0, dup(A)6=0.0, dup(A)7=0.0, dup(A)8=0.0, dup(A)9=0.0, dup(A)10=0.0, dup(A)11=0.0, dup(A)12=0.0, dup(A)13=0.0, dup(A)14=0.0, dup(A)15=0.0, dup(A)16=0.0, dup(A)17=0.0, dup(A)19=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 14 NC_000014.9:g.92041581_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041583_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041584_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041585_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041586_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041587_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041588_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041589_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041590_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041591_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041592_92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041593del
GRCh38.p14 chr 14 NC_000014.9:g.92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041592_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041591_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041590_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041589_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041588_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041587_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041586_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041585_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041584_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041583_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041582_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041581_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041580_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041579_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041578_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041577_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041576_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041575_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041574_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041573_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041572_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041571_92041593dup
GRCh38.p14 chr 14 NC_000014.9:g.92041593_92041594insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 14 NC_000014.9:g.92041593_92041594insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 14 NC_000014.9:g.92041593_92041594insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 14 NC_000014.8:g.92507925_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507927_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507928_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507929_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507930_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507931_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507932_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507933_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507934_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507935_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507936_92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507937del
GRCh37.p13 chr 14 NC_000014.8:g.92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507936_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507935_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507934_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507933_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507932_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507931_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507930_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507929_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507928_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507927_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507926_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507925_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507924_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507923_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507922_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507921_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507920_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507919_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507918_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507917_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507916_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507915_92507937dup
GRCh37.p13 chr 14 NC_000014.8:g.92507937_92507938insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 14 NC_000014.8:g.92507937_92507938insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 14 NC_000014.8:g.92507937_92507938insAAAAAAAAAAAAAAAAAAAAAAAAAAA
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70040_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70042_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70043_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70044_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70045_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70046_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70047_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70048_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70049_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70050_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70051_70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70052del
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70051_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70050_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70049_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70048_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70047_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70046_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70045_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70044_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70043_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70042_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70041_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70040_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70039_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70038_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70037_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70036_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70035_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70034_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70033_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70032_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70031_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70030_70052dup
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70052_70053insTTTTTTTTTTTTTTTTTTTTTTTTT
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70052_70053insTTTTTTTTTTTTTTTTTTTTTTTTTT
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70052_70053insTTTTTTTTTTTTTTTTTTTTTTTTTTT
TRIP11 RefSeqGene NG_016970.1:g.3478_3490del
TRIP11 RefSeqGene NG_016970.1:g.3480_3490del
TRIP11 RefSeqGene NG_016970.1:g.3481_3490del
TRIP11 RefSeqGene NG_016970.1:g.3482_3490del
TRIP11 RefSeqGene NG_016970.1:g.3483_3490del
TRIP11 RefSeqGene NG_016970.1:g.3484_3490del
TRIP11 RefSeqGene NG_016970.1:g.3485_3490del
TRIP11 RefSeqGene NG_016970.1:g.3486_3490del
TRIP11 RefSeqGene NG_016970.1:g.3487_3490del
TRIP11 RefSeqGene NG_016970.1:g.3488_3490del
TRIP11 RefSeqGene NG_016970.1:g.3489_3490del
TRIP11 RefSeqGene NG_016970.1:g.3490del
TRIP11 RefSeqGene NG_016970.1:g.3490dup
TRIP11 RefSeqGene NG_016970.1:g.3489_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3488_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3487_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3486_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3485_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3484_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3483_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3482_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3481_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3480_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3479_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3478_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3477_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3476_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3475_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3474_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3473_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3472_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3471_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3470_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3469_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3468_3490dup
TRIP11 RefSeqGene NG_016970.1:g.3490_3491insTTTTTTTTTTTTTTTTTTTTTTTTT
TRIP11 RefSeqGene NG_016970.1:g.3490_3491insTTTTTTTTTTTTTTTTTTTTTTTTTT
TRIP11 RefSeqGene NG_016970.1:g.3490_3491insTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene: TRIP11, thyroid hormone receptor interactor 11 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
TRIP11 transcript variant 2 NM_001321851.1:c. N/A Upstream Transcript Variant
TRIP11 transcript variant 1 NM_004239.4:c. N/A Upstream Transcript Variant
TRIP11 transcript variant X3 XM_047431935.1:c. N/A N/A
TRIP11 transcript variant X2 XR_001750598.3:n. N/A Upstream Transcript Variant
TRIP11 transcript variant X1 XR_943560.3:n. N/A Upstream Transcript Variant
Gene: LOC124903363, uncharacterized LOC124903363 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124903363 transcript XR_007064308.1:n. 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)24= del(A)13 del(A)11 del(A)10 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)14 dup(A)15 dup(A)16 dup(A)17 dup(A)18 dup(A)19 dup(A)20 dup(A)21 dup(A)22 dup(A)23 ins(A)25 ins(A)26 ins(A)27
GRCh38.p14 chr 14 NC_000014.9:g.92041570_92041593= NC_000014.9:g.92041581_92041593del NC_000014.9:g.92041583_92041593del NC_000014.9:g.92041584_92041593del NC_000014.9:g.92041585_92041593del NC_000014.9:g.92041586_92041593del NC_000014.9:g.92041587_92041593del NC_000014.9:g.92041588_92041593del NC_000014.9:g.92041589_92041593del NC_000014.9:g.92041590_92041593del NC_000014.9:g.92041591_92041593del NC_000014.9:g.92041592_92041593del NC_000014.9:g.92041593del NC_000014.9:g.92041593dup NC_000014.9:g.92041592_92041593dup NC_000014.9:g.92041591_92041593dup NC_000014.9:g.92041590_92041593dup NC_000014.9:g.92041589_92041593dup NC_000014.9:g.92041588_92041593dup NC_000014.9:g.92041587_92041593dup NC_000014.9:g.92041586_92041593dup NC_000014.9:g.92041585_92041593dup NC_000014.9:g.92041584_92041593dup NC_000014.9:g.92041583_92041593dup NC_000014.9:g.92041582_92041593dup NC_000014.9:g.92041581_92041593dup NC_000014.9:g.92041580_92041593dup NC_000014.9:g.92041579_92041593dup NC_000014.9:g.92041578_92041593dup NC_000014.9:g.92041577_92041593dup NC_000014.9:g.92041576_92041593dup NC_000014.9:g.92041575_92041593dup NC_000014.9:g.92041574_92041593dup NC_000014.9:g.92041573_92041593dup NC_000014.9:g.92041572_92041593dup NC_000014.9:g.92041571_92041593dup NC_000014.9:g.92041593_92041594insAAAAAAAAAAAAAAAAAAAAAAAAA NC_000014.9:g.92041593_92041594insAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000014.9:g.92041593_92041594insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 14 NC_000014.8:g.92507914_92507937= NC_000014.8:g.92507925_92507937del NC_000014.8:g.92507927_92507937del NC_000014.8:g.92507928_92507937del NC_000014.8:g.92507929_92507937del NC_000014.8:g.92507930_92507937del NC_000014.8:g.92507931_92507937del NC_000014.8:g.92507932_92507937del NC_000014.8:g.92507933_92507937del NC_000014.8:g.92507934_92507937del NC_000014.8:g.92507935_92507937del NC_000014.8:g.92507936_92507937del NC_000014.8:g.92507937del NC_000014.8:g.92507937dup NC_000014.8:g.92507936_92507937dup NC_000014.8:g.92507935_92507937dup NC_000014.8:g.92507934_92507937dup NC_000014.8:g.92507933_92507937dup NC_000014.8:g.92507932_92507937dup NC_000014.8:g.92507931_92507937dup NC_000014.8:g.92507930_92507937dup NC_000014.8:g.92507929_92507937dup NC_000014.8:g.92507928_92507937dup NC_000014.8:g.92507927_92507937dup NC_000014.8:g.92507926_92507937dup NC_000014.8:g.92507925_92507937dup NC_000014.8:g.92507924_92507937dup NC_000014.8:g.92507923_92507937dup NC_000014.8:g.92507922_92507937dup NC_000014.8:g.92507921_92507937dup NC_000014.8:g.92507920_92507937dup NC_000014.8:g.92507919_92507937dup NC_000014.8:g.92507918_92507937dup NC_000014.8:g.92507917_92507937dup NC_000014.8:g.92507916_92507937dup NC_000014.8:g.92507915_92507937dup NC_000014.8:g.92507937_92507938insAAAAAAAAAAAAAAAAAAAAAAAAA NC_000014.8:g.92507937_92507938insAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000014.8:g.92507937_92507938insAAAAAAAAAAAAAAAAAAAAAAAAAAA
ATXN3 RefSeqGene (LRG_865) NG_008198.2:g.70029_70052= NG_008198.2:g.70040_70052del NG_008198.2:g.70042_70052del NG_008198.2:g.70043_70052del NG_008198.2:g.70044_70052del NG_008198.2:g.70045_70052del NG_008198.2:g.70046_70052del NG_008198.2:g.70047_70052del NG_008198.2:g.70048_70052del NG_008198.2:g.70049_70052del NG_008198.2:g.70050_70052del NG_008198.2:g.70051_70052del NG_008198.2:g.70052del NG_008198.2:g.70052dup NG_008198.2:g.70051_70052dup NG_008198.2:g.70050_70052dup NG_008198.2:g.70049_70052dup NG_008198.2:g.70048_70052dup NG_008198.2:g.70047_70052dup NG_008198.2:g.70046_70052dup NG_008198.2:g.70045_70052dup NG_008198.2:g.70044_70052dup NG_008198.2:g.70043_70052dup NG_008198.2:g.70042_70052dup NG_008198.2:g.70041_70052dup NG_008198.2:g.70040_70052dup NG_008198.2:g.70039_70052dup NG_008198.2:g.70038_70052dup NG_008198.2:g.70037_70052dup NG_008198.2:g.70036_70052dup NG_008198.2:g.70035_70052dup NG_008198.2:g.70034_70052dup NG_008198.2:g.70033_70052dup NG_008198.2:g.70032_70052dup NG_008198.2:g.70031_70052dup NG_008198.2:g.70030_70052dup NG_008198.2:g.70052_70053insTTTTTTTTTTTTTTTTTTTTTTTTT NG_008198.2:g.70052_70053insTTTTTTTTTTTTTTTTTTTTTTTTTT NG_008198.2:g.70052_70053insTTTTTTTTTTTTTTTTTTTTTTTTTTT
TRIP11 RefSeqGene NG_016970.1:g.3467_3490= NG_016970.1:g.3478_3490del NG_016970.1:g.3480_3490del NG_016970.1:g.3481_3490del NG_016970.1:g.3482_3490del NG_016970.1:g.3483_3490del NG_016970.1:g.3484_3490del NG_016970.1:g.3485_3490del NG_016970.1:g.3486_3490del NG_016970.1:g.3487_3490del NG_016970.1:g.3488_3490del NG_016970.1:g.3489_3490del NG_016970.1:g.3490del NG_016970.1:g.3490dup NG_016970.1:g.3489_3490dup NG_016970.1:g.3488_3490dup NG_016970.1:g.3487_3490dup NG_016970.1:g.3486_3490dup NG_016970.1:g.3485_3490dup NG_016970.1:g.3484_3490dup NG_016970.1:g.3483_3490dup NG_016970.1:g.3482_3490dup NG_016970.1:g.3481_3490dup NG_016970.1:g.3480_3490dup NG_016970.1:g.3479_3490dup NG_016970.1:g.3478_3490dup NG_016970.1:g.3477_3490dup NG_016970.1:g.3476_3490dup NG_016970.1:g.3475_3490dup NG_016970.1:g.3474_3490dup NG_016970.1:g.3473_3490dup NG_016970.1:g.3472_3490dup NG_016970.1:g.3471_3490dup NG_016970.1:g.3470_3490dup NG_016970.1:g.3469_3490dup NG_016970.1:g.3468_3490dup NG_016970.1:g.3490_3491insTTTTTTTTTTTTTTTTTTTTTTTTT NG_016970.1:g.3490_3491insTTTTTTTTTTTTTTTTTTTTTTTTTT NG_016970.1:g.3490_3491insTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

75 SubSNP, 54 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95649324 Dec 05, 2013 (138)
2 PJP ss294844493 May 09, 2011 (137)
3 BILGI_BIOE ss666637030 Apr 25, 2013 (138)
4 EVA_UK10K_ALSPAC ss1708170501 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1708170534 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1710650845 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1710650854 Apr 01, 2015 (144)
8 SWEGEN ss3012664281 Nov 08, 2017 (151)
9 URBANLAB ss3650264292 Oct 12, 2018 (152)
10 EVA_DECODE ss3697243942 Jul 13, 2019 (153)
11 EVA_DECODE ss3697243943 Jul 13, 2019 (153)
12 EVA_DECODE ss3697243944 Jul 13, 2019 (153)
13 EVA_DECODE ss3697243945 Jul 13, 2019 (153)
14 EVA_DECODE ss3697243946 Jul 13, 2019 (153)
15 PACBIO ss3797656209 Jul 13, 2019 (153)
16 EVA ss3834066271 Apr 27, 2020 (154)
17 GNOMAD ss4282953084 Apr 27, 2021 (155)
18 GNOMAD ss4282953085 Apr 27, 2021 (155)
19 GNOMAD ss4282953086 Apr 27, 2021 (155)
20 GNOMAD ss4282953087 Apr 27, 2021 (155)
21 GNOMAD ss4282953088 Apr 27, 2021 (155)
22 GNOMAD ss4282953089 Apr 27, 2021 (155)
23 GNOMAD ss4282953090 Apr 27, 2021 (155)
24 GNOMAD ss4282953091 Apr 27, 2021 (155)
25 GNOMAD ss4282953092 Apr 27, 2021 (155)
26 GNOMAD ss4282953093 Apr 27, 2021 (155)
27 GNOMAD ss4282953094 Apr 27, 2021 (155)
28 GNOMAD ss4282953095 Apr 27, 2021 (155)
29 GNOMAD ss4282953096 Apr 27, 2021 (155)
30 GNOMAD ss4282953097 Apr 27, 2021 (155)
31 GNOMAD ss4282953098 Apr 27, 2021 (155)
32 GNOMAD ss4282953099 Apr 27, 2021 (155)
33 GNOMAD ss4282953100 Apr 27, 2021 (155)
34 GNOMAD ss4282953101 Apr 27, 2021 (155)
35 GNOMAD ss4282953102 Apr 27, 2021 (155)
36 GNOMAD ss4282953103 Apr 27, 2021 (155)
37 GNOMAD ss4282953104 Apr 27, 2021 (155)
38 GNOMAD ss4282953105 Apr 27, 2021 (155)
39 GNOMAD ss4282953106 Apr 27, 2021 (155)
40 GNOMAD ss4282953107 Apr 27, 2021 (155)
41 GNOMAD ss4282953108 Apr 27, 2021 (155)
42 GNOMAD ss4282953109 Apr 27, 2021 (155)
43 GNOMAD ss4282953126 Apr 27, 2021 (155)
44 GNOMAD ss4282953127 Apr 27, 2021 (155)
45 GNOMAD ss4282953128 Apr 27, 2021 (155)
46 GNOMAD ss4282953129 Apr 27, 2021 (155)
47 GNOMAD ss4282953130 Apr 27, 2021 (155)
48 GNOMAD ss4282953131 Apr 27, 2021 (155)
49 GNOMAD ss4282953132 Apr 27, 2021 (155)
50 GNOMAD ss4282953133 Apr 27, 2021 (155)
51 GNOMAD ss4282953134 Apr 27, 2021 (155)
52 GNOMAD ss4282953135 Apr 27, 2021 (155)
53 GNOMAD ss4282953136 Apr 27, 2021 (155)
54 TOMMO_GENOMICS ss5214517370 Apr 27, 2021 (155)
55 TOMMO_GENOMICS ss5214517371 Apr 27, 2021 (155)
56 TOMMO_GENOMICS ss5214517372 Apr 27, 2021 (155)
57 TOMMO_GENOMICS ss5214517373 Apr 27, 2021 (155)
58 TOMMO_GENOMICS ss5214517374 Apr 27, 2021 (155)
59 TOMMO_GENOMICS ss5214517375 Apr 27, 2021 (155)
60 1000G_HIGH_COVERAGE ss5297219517 Oct 16, 2022 (156)
61 1000G_HIGH_COVERAGE ss5297219518 Oct 16, 2022 (156)
62 1000G_HIGH_COVERAGE ss5297219519 Oct 16, 2022 (156)
63 1000G_HIGH_COVERAGE ss5297219520 Oct 16, 2022 (156)
64 1000G_HIGH_COVERAGE ss5297219521 Oct 16, 2022 (156)
65 1000G_HIGH_COVERAGE ss5297219522 Oct 16, 2022 (156)
66 HUGCELL_USP ss5491170651 Oct 16, 2022 (156)
67 HUGCELL_USP ss5491170652 Oct 16, 2022 (156)
68 HUGCELL_USP ss5491170653 Oct 16, 2022 (156)
69 HUGCELL_USP ss5491170654 Oct 16, 2022 (156)
70 TOMMO_GENOMICS ss5767689913 Oct 16, 2022 (156)
71 TOMMO_GENOMICS ss5767689914 Oct 16, 2022 (156)
72 TOMMO_GENOMICS ss5767689915 Oct 16, 2022 (156)
73 TOMMO_GENOMICS ss5767689916 Oct 16, 2022 (156)
74 TOMMO_GENOMICS ss5767689917 Oct 16, 2022 (156)
75 TOMMO_GENOMICS ss5767689918 Oct 16, 2022 (156)
76 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 36217538 (NC_000014.8:92507913:AAA: 1601/3854)
Row 36217539 (NC_000014.8:92507914:A: 1974/3854)

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

Submission ignored due to conflicting rows:
Row 36217538 (NC_000014.8:92507913:AAA: 1601/3854)
Row 36217539 (NC_000014.8:92507914:A: 1974/3854)

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

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
85 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
104 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
105 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
106 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
107 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
108 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
109 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
111 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
112 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
113 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
114 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459386238 (NC_000014.9:92041569::A 16/66566)
Row 459386239 (NC_000014.9:92041569::AA 9/66576)
Row 459386240 (NC_000014.9:92041569::AAA 6/66576)...

- Apr 27, 2021 (155)
115 8.3KJPN

Submission ignored due to conflicting rows:
Row 72486677 (NC_000014.8:92507913:A: 5998/13994)
Row 72486678 (NC_000014.8:92507913::AAAAAAAAAA 140/13994)
Row 72486679 (NC_000014.8:92507913:AAAAAA: 19/13994)...

- Apr 27, 2021 (155)
116 8.3KJPN

Submission ignored due to conflicting rows:
Row 72486677 (NC_000014.8:92507913:A: 5998/13994)
Row 72486678 (NC_000014.8:92507913::AAAAAAAAAA 140/13994)
Row 72486679 (NC_000014.8:92507913:AAAAAA: 19/13994)...

- Apr 27, 2021 (155)
117 8.3KJPN

Submission ignored due to conflicting rows:
Row 72486677 (NC_000014.8:92507913:A: 5998/13994)
Row 72486678 (NC_000014.8:92507913::AAAAAAAAAA 140/13994)
Row 72486679 (NC_000014.8:92507913:AAAAAA: 19/13994)...

- Apr 27, 2021 (155)
118 8.3KJPN

Submission ignored due to conflicting rows:
Row 72486677 (NC_000014.8:92507913:A: 5998/13994)
Row 72486678 (NC_000014.8:92507913::AAAAAAAAAA 140/13994)
Row 72486679 (NC_000014.8:92507913:AAAAAA: 19/13994)...

- Apr 27, 2021 (155)
119 8.3KJPN

Submission ignored due to conflicting rows:
Row 72486677 (NC_000014.8:92507913:A: 5998/13994)
Row 72486678 (NC_000014.8:92507913::AAAAAAAAAA 140/13994)
Row 72486679 (NC_000014.8:92507913:AAAAAA: 19/13994)...

- Apr 27, 2021 (155)
120 8.3KJPN

Submission ignored due to conflicting rows:
Row 72486677 (NC_000014.8:92507913:A: 5998/13994)
Row 72486678 (NC_000014.8:92507913::AAAAAAAAAA 140/13994)
Row 72486679 (NC_000014.8:92507913:AAAAAA: 19/13994)...

- Apr 27, 2021 (155)
121 14KJPN

Submission ignored due to conflicting rows:
Row 101527017 (NC_000014.9:92041569:A: 12787/26958)
Row 101527018 (NC_000014.9:92041569:AAAAAA: 29/26958)
Row 101527019 (NC_000014.9:92041569:AAAA: 63/26958)...

- Oct 16, 2022 (156)
122 14KJPN

Submission ignored due to conflicting rows:
Row 101527017 (NC_000014.9:92041569:A: 12787/26958)
Row 101527018 (NC_000014.9:92041569:AAAAAA: 29/26958)
Row 101527019 (NC_000014.9:92041569:AAAA: 63/26958)...

- Oct 16, 2022 (156)
123 14KJPN

Submission ignored due to conflicting rows:
Row 101527017 (NC_000014.9:92041569:A: 12787/26958)
Row 101527018 (NC_000014.9:92041569:AAAAAA: 29/26958)
Row 101527019 (NC_000014.9:92041569:AAAA: 63/26958)...

- Oct 16, 2022 (156)
124 14KJPN

Submission ignored due to conflicting rows:
Row 101527017 (NC_000014.9:92041569:A: 12787/26958)
Row 101527018 (NC_000014.9:92041569:AAAAAA: 29/26958)
Row 101527019 (NC_000014.9:92041569:AAAA: 63/26958)...

- Oct 16, 2022 (156)
125 14KJPN

Submission ignored due to conflicting rows:
Row 101527017 (NC_000014.9:92041569:A: 12787/26958)
Row 101527018 (NC_000014.9:92041569:AAAAAA: 29/26958)
Row 101527019 (NC_000014.9:92041569:AAAA: 63/26958)...

- Oct 16, 2022 (156)
126 14KJPN

Submission ignored due to conflicting rows:
Row 101527017 (NC_000014.9:92041569:A: 12787/26958)
Row 101527018 (NC_000014.9:92041569:AAAAAA: 29/26958)
Row 101527019 (NC_000014.9:92041569:AAAA: 63/26958)...

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

Submission ignored due to conflicting rows:
Row 36217538 (NC_000014.8:92507913:AAA: 1526/3708)
Row 36217539 (NC_000014.8:92507914:A: 1940/3708)

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

Submission ignored due to conflicting rows:
Row 36217538 (NC_000014.8:92507913:AAA: 1526/3708)
Row 36217539 (NC_000014.8:92507914:A: 1940/3708)

- Oct 12, 2018 (152)
129 ALFA NC_000014.9 - 92041570 Apr 27, 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)
rs148504834 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4282953136 NC_000014.9:92041569:AAAAAAAAAAAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4282953135 NC_000014.9:92041569:AAAAAAAAAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4282953134 NC_000014.9:92041569:AAAAAAAAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4282953133 NC_000014.9:92041569:AAAAAAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss666637030 NC_000014.8:92507913:AAAAAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4282953132 NC_000014.9:92041569:AAAAAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5214517372 NC_000014.8:92507913:AAAAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4282953131, ss5767689914 NC_000014.9:92041569:AAAAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4282953130 NC_000014.9:92041569:AAAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5214517373 NC_000014.8:92507913:AAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3697243946, ss4282953129, ss5767689915 NC_000014.9:92041569:AAAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss1708170501, ss1708170534 NC_000014.8:92507913:AAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953128, ss5491170654 NC_000014.9:92041569:AAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3697243945 NC_000014.9:92041570:AAA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss1710650845, ss1710650854 NC_000014.8:92507914:AA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953127, ss5297219522, ss5491170651 NC_000014.9:92041569:AA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3697243944 NC_000014.9:92041571:AA: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss294844493 NC_000014.7:91577666:A: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3012664281, ss3797656209, ss3834066271, ss5214517370 NC_000014.8:92507913:A: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000014.8:92507914:A: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3650264292, ss4282953126, ss5297219517, ss5491170652, ss5767689913 NC_000014.9:92041569:A: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3697243943 NC_000014.9:92041572:A: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss95649324 NT_026437.12:73507936:A: NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953084 NC_000014.9:92041569::A NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953085 NC_000014.9:92041569::AA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953086 NC_000014.9:92041569::AAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3697243942 NC_000014.9:92041573::AAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953087 NC_000014.9:92041569::AAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953088 NC_000014.9:92041569::AAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953089 NC_000014.9:92041569::AAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953090 NC_000014.9:92041569::AAAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953091 NC_000014.9:92041569::AAAAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953092 NC_000014.9:92041569::AAAAAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5214517371 NC_000014.8:92507913::AAAAAAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953093, ss5767689916 NC_000014.9:92041569::AAAAAAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953094 NC_000014.9:92041569::AAAAAAAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5214517375 NC_000014.8:92507913::AAAAAAAAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953095, ss5297219521, ss5767689918 NC_000014.9:92041569::AAAAAAAAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5214517374 NC_000014.8:92507913::AAAAAAAAAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953096, ss5297219518, ss5491170653, ss5767689917 NC_000014.9:92041569::AAAAAAAAAAAAA NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953097, ss5297219519 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953098, ss5297219520 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953099 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953100 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953101 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953102 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12726135685 NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953103 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953104 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953105 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953106 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953107 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953108 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4282953109 NC_000014.9:92041569::AAAAAAAAAAAA…

NC_000014.9:92041569::AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000014.9:92041569:AAAAAAAAAAAAA…

NC_000014.9:92041569:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
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 rs71123312

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