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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs17076111

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:51933048 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.037886 (10028/264690, TOPMED)
C=0.035882 (5029/140152, GnomAD)
C=0.009894 (1222/123512, ALFA) (+ 8 more)
C=0.0440 (282/6404, 1000G_30x)
C=0.0411 (206/5008, 1000G)
C=0.0230 (48/2084, HGDP_Stanford)
C=0.077 (77/994, HapMap)
C=0.032 (7/216, Qatari)
T=0.50 (11/22, SGDP_PRJ)
C=0.50 (11/22, SGDP_PRJ)
C=0.00 (0/16, Ancient Sardinia)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TMEM272 : Intron Variant
ATP7B : 3 Prime UTR 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 123512 T=0.990106 C=0.009894
European Sub 106590 T=0.999550 C=0.000450
African Sub 9540 T=0.8874 C=0.1126
African Others Sub 314 T=0.879 C=0.121
African American Sub 9226 T=0.8877 C=0.1123
Asian Sub 504 T=0.998 C=0.002
East Asian Sub 404 T=1.000 C=0.000
Other Asian Sub 100 T=0.99 C=0.01
Latin American 1 Sub 608 T=0.964 C=0.036
Latin American 2 Sub 1088 T=0.9917 C=0.0083
South Asian Sub 190 T=0.995 C=0.005
Other Sub 4992 T=0.9866 C=0.0134


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
TopMed Global Study-wide 264690 T=0.962114 C=0.037886
gnomAD - Genomes Global Study-wide 140152 T=0.964118 C=0.035882
gnomAD - Genomes European Sub 75926 T=0.99975 C=0.00025
gnomAD - Genomes African Sub 41976 T=0.88434 C=0.11566
gnomAD - Genomes American Sub 13646 T=0.99201 C=0.00799
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=0.9786 C=0.0214
Allele Frequency Aggregator Total Global 123512 T=0.990106 C=0.009894
Allele Frequency Aggregator European Sub 106590 T=0.999550 C=0.000450
Allele Frequency Aggregator African Sub 9540 T=0.8874 C=0.1126
Allele Frequency Aggregator Other Sub 4992 T=0.9866 C=0.0134
Allele Frequency Aggregator Latin American 2 Sub 1088 T=0.9917 C=0.0083
Allele Frequency Aggregator Latin American 1 Sub 608 T=0.964 C=0.036
Allele Frequency Aggregator Asian Sub 504 T=0.998 C=0.002
Allele Frequency Aggregator South Asian Sub 190 T=0.995 C=0.005
1000Genomes_30x Global Study-wide 6404 T=0.9560 C=0.0440
1000Genomes_30x African Sub 1786 T=0.8455 C=0.1545
1000Genomes_30x Europe Sub 1266 T=1.0000 C=0.0000
1000Genomes_30x South Asian Sub 1202 T=1.0000 C=0.0000
1000Genomes_30x East Asian Sub 1170 T=1.0000 C=0.0000
1000Genomes_30x American Sub 980 T=0.994 C=0.006
1000Genomes Global Study-wide 5008 T=0.9589 C=0.0411
1000Genomes African Sub 1322 T=0.8472 C=0.1528
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=0.994 C=0.006
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.9770 C=0.0230
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=1.000 C=0.000
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.995 C=0.005
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.989 C=0.011
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=1.000 C=0.000
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.831 C=0.169
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.995 C=0.005
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=1.00 C=0.00
HapMap Global Study-wide 994 T=0.923 C=0.077
HapMap African Sub 690 T=0.906 C=0.094
HapMap American Sub 214 T=0.944 C=0.056
HapMap Asian Sub 90 T=1.00 C=0.00
Qatari Global Study-wide 216 T=0.968 C=0.032
SGDP_PRJ Global Study-wide 22 T=0.50 C=0.50
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 16 T=1.00 C=0.00
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 13 NC_000013.11:g.51933048T>C
GRCh37.p13 chr 13 NC_000013.10:g.52507184T>C
ATP7B RefSeqGene NG_008806.1:g.83447A>G
Gene: ATP7B, ATPase copper transporting beta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP7B transcript variant 1 NM_000053.4:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant 5 NM_001330579.2:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant 2 NM_001005918.3:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant 3 NM_001243182.2:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant 4 NM_001330578.2:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X1 XM_005266430.5:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X2 XM_005266431.5:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X3 XM_005266424.5:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X4 XM_006719837.4:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X5 XM_005266423.3:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X6 XM_017020627.2:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X7 XM_011535117.4:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X8 XM_047430385.1:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X9 XM_047430386.1:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X10 XM_047430387.1:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X11 XM_047430388.1:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X12 XM_047430389.1:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X13 XM_047430390.1:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X14 XM_047430391.1:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X15 XM_047430392.1:c.*1708= N/A 3 Prime UTR Variant
ATP7B transcript variant X16 XM_047430393.1:c.*1708= N/A 3 Prime UTR Variant
Gene: TMEM272, transmembrane protein 272 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TMEM272 transcript variant 1 NM_001351003.2:c. N/A Genic Upstream Transcript Variant
TMEM272 transcript variant 3 NM_001351005.2:c. N/A Genic Upstream Transcript Variant
TMEM272 transcript variant 2 NM_001351006.2:c. N/A Genic Upstream Transcript Variant
TMEM272 transcript variant X1 XM_047430278.1:c.28+1242A…

XM_047430278.1:c.28+1242A>G

 		N/A Intron Variant
TMEM272 transcript variant X2 XM_047430279.1:c. N/A Genic Upstream Transcript Variant
TMEM272 transcript variant X3 XM_047430280.1:c. N/A Genic Upstream Transcript Variant
TMEM272 transcript variant X4 XM_047430281.1:c. N/A Genic 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.

Allele: C (allele ID: 336848 )
ClinVar Accession Disease Names Clinical Significance
RCV000340057.3 Wilson disease Benign
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 T= C
GRCh38.p14 chr 13 NC_000013.11:g.51933048= NC_000013.11:g.51933048T>C
GRCh37.p13 chr 13 NC_000013.10:g.52507184= NC_000013.10:g.52507184T>C
ATP7B RefSeqGene NG_008806.1:g.83447= NG_008806.1:g.83447A>G
ATP7B transcript variant 1 NM_000053.4:c.*1708= NM_000053.4:c.*1708A>G
ATP7B transcript variant 1 NM_000053.3:c.*1708= NM_000053.3:c.*1708A>G
ATP7B transcript variant 2 NM_001005918.3:c.*1708= NM_001005918.3:c.*1708A>G
ATP7B transcript variant 2 NM_001005918.2:c.*1708= NM_001005918.2:c.*1708A>G
ATP7B transcript variant 4 NM_001330578.2:c.*1708= NM_001330578.2:c.*1708A>G
ATP7B transcript variant 4 NM_001330578.1:c.*1708= NM_001330578.1:c.*1708A>G
ATP7B transcript variant 5 NM_001330579.2:c.*1708= NM_001330579.2:c.*1708A>G
ATP7B transcript variant 5 NM_001330579.1:c.*1708= NM_001330579.1:c.*1708A>G
ATP7B transcript variant 3 NM_001243182.2:c.*1708= NM_001243182.2:c.*1708A>G
ATP7B transcript variant 3 NM_001243182.1:c.*1708= NM_001243182.1:c.*1708A>G
ATP7B transcript variant 7 NM_001406512.1:c.*1708= NM_001406512.1:c.*1708A>G
ATP7B transcript variant 11 NM_001406516.1:c.*1708= NM_001406516.1:c.*1708A>G
ATP7B transcript variant 26 NM_001406532.1:c.*1708= NM_001406532.1:c.*1708A>G
ATP7B transcript variant 17 NM_001406522.1:c.*1708= NM_001406522.1:c.*1708A>G
ATP7B transcript variant 13 NM_001406518.1:c.*1708= NM_001406518.1:c.*1708A>G
ATP7B transcript variant 6 NM_001406511.1:c.*1708= NM_001406511.1:c.*1708A>G
ATP7B transcript variant 8 NM_001406513.1:c.*1708= NM_001406513.1:c.*1708A>G
ATP7B transcript variant 23 NM_001406528.1:c.*1708= NM_001406528.1:c.*1708A>G
ATP7B transcript variant 9 NM_001406514.1:c.*1708= NM_001406514.1:c.*1708A>G
ATP7B transcript variant 10 NM_001406515.1:c.*1708= NM_001406515.1:c.*1708A>G
ATP7B transcript variant 16 NM_001406521.1:c.*1708= NM_001406521.1:c.*1708A>G
ATP7B transcript variant 12 NM_001406517.1:c.*1708= NM_001406517.1:c.*1708A>G
ATP7B transcript variant 14 NM_001406519.1:c.*1708= NM_001406519.1:c.*1708A>G
ATP7B transcript variant 15 NM_001406520.1:c.*1708= NM_001406520.1:c.*1708A>G
ATP7B transcript variant 18 NM_001406524.1:c.*1708= NM_001406524.1:c.*1708A>G
ATP7B transcript variant 22 NM_001406527.1:c.*1708= NM_001406527.1:c.*1708A>G
ATP7B transcript variant 19 NM_001406523.1:c.*1708= NM_001406523.1:c.*1708A>G
ATP7B transcript variant 20 NM_001406525.1:c.*1708= NM_001406525.1:c.*1708A>G
ATP7B transcript variant 25 NM_001406531.1:c.*1708= NM_001406531.1:c.*1708A>G
ATP7B transcript variant 21 NM_001406526.1:c.*1708= NM_001406526.1:c.*1708A>G
ATP7B transcript variant 24 NM_001406530.1:c.*1708= NM_001406530.1:c.*1708A>G
ATP7B transcript variant 30 NM_001406537.1:c.*1708= NM_001406537.1:c.*1708A>G
ATP7B transcript variant 27 NM_001406534.1:c.*1708= NM_001406534.1:c.*1708A>G
ATP7B transcript variant 32 NM_001406539.1:c.*1708= NM_001406539.1:c.*1708A>G
ATP7B transcript variant 36 NM_001406543.1:c.*1708= NM_001406543.1:c.*1708A>G
ATP7B transcript variant 29 NM_001406536.1:c.*1708= NM_001406536.1:c.*1708A>G
ATP7B transcript variant 28 NM_001406535.1:c.*1708= NM_001406535.1:c.*1708A>G
ATP7B transcript variant 31 NM_001406538.1:c.*1708= NM_001406538.1:c.*1708A>G
ATP7B transcript variant 34 NM_001406541.1:c.*1708= NM_001406541.1:c.*1708A>G
ATP7B transcript variant 33 NM_001406540.1:c.*1708= NM_001406540.1:c.*1708A>G
ATP7B transcript variant 35 NM_001406542.1:c.*1708= NM_001406542.1:c.*1708A>G
ATP7B transcript variant 37 NM_001406544.1:c.*1708= NM_001406544.1:c.*1708A>G
ATP7B transcript variant 38 NM_001406545.1:c.*1708= NM_001406545.1:c.*1708A>G
ATP7B transcript variant 39 NM_001406546.1:c.*1708= NM_001406546.1:c.*1708A>G
ATP7B transcript variant 40 NM_001406547.1:c.*1708= NM_001406547.1:c.*1708A>G
ATP7B transcript variant 41 NM_001406548.1:c.*1708= NM_001406548.1:c.*1708A>G
ATP7B transcript variant X1 XM_005266430.5:c.*1708= XM_005266430.5:c.*1708A>G
ATP7B transcript variant X3 XM_005266424.5:c.*1708= XM_005266424.5:c.*1708A>G
ATP7B transcript variant X4 XM_005266424.4:c.*1708= XM_005266424.4:c.*1708A>G
ATP7B transcript variant X7 XM_005266424.3:c.*1708= XM_005266424.3:c.*1708A>G
ATP7B transcript variant X2 XM_005266424.2:c.*1708= XM_005266424.2:c.*1708A>G
ATP7B transcript variant X2 XM_005266424.1:c.*1708= XM_005266424.1:c.*1708A>G
ATP7B transcript variant X2 XM_005266431.5:c.*1708= XM_005266431.5:c.*1708A>G
ATP7B transcript variant X3 XM_005266431.4:c.*1708= XM_005266431.4:c.*1708A>G
ATP7B transcript variant X12 XM_005266431.3:c.*1708= XM_005266431.3:c.*1708A>G
ATP7B transcript variant X6 XM_005266431.2:c.*1708= XM_005266431.2:c.*1708A>G
ATP7B transcript variant X9 XM_005266431.1:c.*1708= XM_005266431.1:c.*1708A>G
ATP7B transcript variant X7 XM_011535117.4:c.*1708= XM_011535117.4:c.*1708A>G
ATP7B transcript variant X7 XM_011535117.3:c.*1708= XM_011535117.3:c.*1708A>G
ATP7B transcript variant X6 XM_011535117.2:c.*1708= XM_011535117.2:c.*1708A>G
ATP7B transcript variant X10 XM_011535117.1:c.*1708= XM_011535117.1:c.*1708A>G
ATP7B transcript variant X4 XM_006719837.4:c.*1708= XM_006719837.4:c.*1708A>G
ATP7B transcript variant X5 XM_005266423.3:c.*1708= XM_005266423.3:c.*1708A>G
ATP7B transcript variant X6 XM_005266423.2:c.*1708= XM_005266423.2:c.*1708A>G
ATP7B transcript variant X1 XM_005266423.1:c.*1708= XM_005266423.1:c.*1708A>G
ATP7B transcript variant X6 XM_017020627.2:c.*1708= XM_017020627.2:c.*1708A>G
ATP7B transcript variant X8 XM_017020627.1:c.*1708= XM_017020627.1:c.*1708A>G
ATP7B transcript variant X8 XM_047430385.1:c.*1708= XM_047430385.1:c.*1708A>G
ATP7B transcript variant X10 XM_047430387.1:c.*1708= XM_047430387.1:c.*1708A>G
ATP7B transcript variant X9 XM_047430386.1:c.*1708= XM_047430386.1:c.*1708A>G
ATP7B transcript variant X11 XM_047430388.1:c.*1708= XM_047430388.1:c.*1708A>G
ATP7B transcript variant X12 XM_047430389.1:c.*1708= XM_047430389.1:c.*1708A>G
ATP7B transcript variant X13 XM_047430390.1:c.*1708= XM_047430390.1:c.*1708A>G
ATP7B transcript variant X14 XM_047430391.1:c.*1708= XM_047430391.1:c.*1708A>G
ATP7B transcript variant X15 XM_047430392.1:c.*1708= XM_047430392.1:c.*1708A>G
ATP7B transcript variant X16 XM_047430393.1:c.*1708= XM_047430393.1:c.*1708A>G
TMEM272 transcript variant X1 XM_047430278.1:c.28+1242= XM_047430278.1:c.28+1242A>G
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#.

63 SubSNP, 10 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss23332549 Sep 20, 2004 (123)
2 AFFY ss66243596 Dec 01, 2006 (127)
3 ILLUMINA ss67531312 Dec 01, 2006 (127)
4 ILLUMINA ss71211519 May 18, 2007 (127)
5 ILLUMINA ss75418439 Dec 07, 2007 (129)
6 AFFY ss76389241 Dec 07, 2007 (129)
7 KRIBB_YJKIM ss83179505 Dec 14, 2007 (130)
8 HGSV ss85089413 Dec 15, 2007 (130)
9 ILLUMINA ss160419967 Dec 01, 2009 (131)
10 ILLUMINA ss172734430 Jul 04, 2010 (132)
11 1000GENOMES ss226191366 Jul 14, 2010 (132)
12 ILLUMINA ss480170550 May 04, 2012 (137)
13 ILLUMINA ss480180212 May 04, 2012 (137)
14 ILLUMINA ss480896259 Sep 08, 2015 (146)
15 ILLUMINA ss481183517 May 04, 2012 (137)
16 ILLUMINA ss483203811 May 04, 2012 (137)
17 ILLUMINA ss484883302 May 04, 2012 (137)
18 ILLUMINA ss534178764 Sep 08, 2015 (146)
19 TISHKOFF ss563674539 Apr 25, 2013 (138)
20 ILLUMINA ss779261873 Sep 08, 2015 (146)
21 ILLUMINA ss781417598 Sep 08, 2015 (146)
22 ILLUMINA ss782888022 Sep 08, 2015 (146)
23 ILLUMINA ss832142508 Sep 08, 2015 (146)
24 ILLUMINA ss834728536 Sep 08, 2015 (146)
25 JMKIDD_LAB ss1079093803 Aug 21, 2014 (142)
26 1000GENOMES ss1348263113 Aug 21, 2014 (142)
27 ILLUMINA ss1752107731 Sep 08, 2015 (146)
28 HAMMER_LAB ss1807615501 Sep 08, 2015 (146)
29 WEILL_CORNELL_DGM ss1933770538 Feb 12, 2016 (147)
30 JJLAB ss2027646588 Sep 14, 2016 (149)
31 HUMAN_LONGEVITY ss2196418340 Dec 20, 2016 (150)
32 ILLUMINA ss2633066111 Nov 08, 2017 (151)
33 ILLUMINA ss2633066112 Nov 08, 2017 (151)
34 GNOMAD ss2919769264 Nov 08, 2017 (151)
35 ILLUMINA ss3627068891 Oct 12, 2018 (152)
36 ILLUMINA ss3631069342 Oct 12, 2018 (152)
37 ILLUMINA ss3633050835 Oct 12, 2018 (152)
38 ILLUMINA ss3633753194 Oct 12, 2018 (152)
39 ILLUMINA ss3634545725 Oct 12, 2018 (152)
40 ILLUMINA ss3635443259 Oct 12, 2018 (152)
41 ILLUMINA ss3636232744 Oct 12, 2018 (152)
42 ILLUMINA ss3637194348 Oct 12, 2018 (152)
43 ILLUMINA ss3638012405 Oct 12, 2018 (152)
44 ILLUMINA ss3640253055 Oct 12, 2018 (152)
45 ILLUMINA ss3643002064 Oct 12, 2018 (152)
46 EVA_DECODE ss3695312536 Jul 13, 2019 (153)
47 ILLUMINA ss3744846418 Jul 13, 2019 (153)
48 ILLUMINA ss3772345482 Jul 13, 2019 (153)
49 KHV_HUMAN_GENOMES ss3816807249 Jul 13, 2019 (153)
50 EVA ss3833551998 Apr 27, 2020 (154)
51 HGDP ss3847479491 Apr 27, 2020 (154)
52 SGDP_PRJ ss3879995854 Apr 27, 2020 (154)
53 EVA ss3985640545 Apr 26, 2021 (155)
54 EVA ss4017634171 Apr 26, 2021 (155)
55 TOPMED ss4946665440 Apr 26, 2021 (155)
56 1000G_HIGH_COVERAGE ss5293769458 Oct 16, 2022 (156)
57 EVA ss5410833484 Oct 16, 2022 (156)
58 HUGCELL_USP ss5488129813 Oct 16, 2022 (156)
59 1000G_HIGH_COVERAGE ss5592736683 Oct 16, 2022 (156)
60 SANFORD_IMAGENETICS ss5654789398 Oct 16, 2022 (156)
61 EVA ss5839491514 Oct 16, 2022 (156)
62 EVA ss5925149596 Oct 16, 2022 (156)
63 EVA ss5946213379 Oct 16, 2022 (156)
64 1000Genomes NC_000013.10 - 52507184 Oct 12, 2018 (152)
65 1000Genomes_30x NC_000013.11 - 51933048 Oct 16, 2022 (156)
66 gnomAD - Genomes NC_000013.11 - 51933048 Apr 26, 2021 (155)
67 HGDP-CEPH-db Supplement 1 NC_000013.9 - 51405185 Apr 27, 2020 (154)
68 HapMap NC_000013.11 - 51933048 Apr 27, 2020 (154)
69 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000013.10 - 52507184 Apr 26, 2021 (155)
70 Qatari NC_000013.10 - 52507184 Apr 27, 2020 (154)
71 SGDP_PRJ NC_000013.10 - 52507184 Apr 27, 2020 (154)
72 TopMed NC_000013.11 - 51933048 Apr 26, 2021 (155)
73 ALFA NC_000013.11 - 51933048 Apr 26, 2021 (155)
74 ClinVar RCV000340057.3 Oct 16, 2022 (156)
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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)
rs57823520 Feb 27, 2009 (130)
rs61011171 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
157383, ss66243596, ss76389241, ss85089413, ss480170550, ss483203811, ss3643002064, ss3847479491 NC_000013.9:51405184:T:C NC_000013.11:51933047:T:C (self)
61136243, 866472, 15812468, 32012834, ss226191366, ss480180212, ss480896259, ss481183517, ss484883302, ss534178764, ss563674539, ss779261873, ss781417598, ss782888022, ss832142508, ss834728536, ss1079093803, ss1348263113, ss1752107731, ss1807615501, ss1933770538, ss2027646588, ss2633066111, ss2633066112, ss2919769264, ss3627068891, ss3631069342, ss3633050835, ss3633753194, ss3634545725, ss3635443259, ss3636232744, ss3637194348, ss3638012405, ss3640253055, ss3744846418, ss3772345482, ss3833551998, ss3879995854, ss3985640545, ss4017634171, ss5410833484, ss5654789398, ss5839491514, ss5946213379 NC_000013.10:52507183:T:C NC_000013.11:51933047:T:C (self)
RCV000340057.3, 80262618, 431027029, 993583, 162211098, 8147476627, ss2196418340, ss3695312536, ss3816807249, ss4946665440, ss5293769458, ss5488129813, ss5592736683, ss5925149596 NC_000013.11:51933047:T:C NC_000013.11:51933047:T:C (self)
ss23332549, ss67531312, ss71211519, ss75418439, ss83179505, ss160419967, ss172734430 NT_024524.14:33487183:T:C NC_000013.11:51933047:T:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs17076111

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
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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.post761+d5e8e07