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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.

rs614334

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:29577967 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.236613 (62629/264690, TOPMED)
A=0.269766 (39149/145122, ALFA)
A=0.246879 (34611/140194, GnomAD) (+ 17 more)
A=0.08700 (2458/28254, 14KJPN)
A=0.08630 (1446/16756, 8.3KJPN)
A=0.2106 (1349/6404, 1000G_30x)
A=0.2075 (1039/5008, 1000G)
A=0.3134 (1404/4480, Estonian)
A=0.2532 (976/3854, ALSPAC)
A=0.2654 (984/3708, TWINSUK)
A=0.0799 (234/2930, KOREAN)
A=0.1644 (311/1892, HapMap)
A=0.0802 (147/1832, Korea1K)
A=0.240 (240/998, GoNL)
A=0.217 (130/600, NorthernSweden)
A=0.154 (82/532, SGDP_PRJ)
A=0.310 (67/216, Qatari)
A=0.121 (26/214, Vietnamese)
A=0.20 (11/54, Siberian)
A=0.33 (13/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TP53I13 : Intron Variant
GIT1 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 145122 A=0.269766 C=0.000000, G=0.730234
European Sub 125450 A=0.274699 C=0.000000, G=0.725301
African Sub 6612 A=0.2114 C=0.0000, G=0.7886
African Others Sub 224 A=0.196 C=0.000, G=0.804
African American Sub 6388 A=0.2120 C=0.0000, G=0.7880
Asian Sub 522 A=0.090 C=0.000, G=0.910
East Asian Sub 414 A=0.077 C=0.000, G=0.923
Other Asian Sub 108 A=0.139 C=0.000, G=0.861
Latin American 1 Sub 612 A=0.279 C=0.000, G=0.721
Latin American 2 Sub 5778 A=0.2714 C=0.0000, G=0.7286
South Asian Sub 98 A=0.36 C=0.00, G=0.64
Other Sub 6050 A=0.2428 C=0.0000, G=0.7572


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 A=0.236613 G=0.763387
Allele Frequency Aggregator Total Global 145122 A=0.269766 C=0.000000, G=0.730234
Allele Frequency Aggregator European Sub 125450 A=0.274699 C=0.000000, G=0.725301
Allele Frequency Aggregator African Sub 6612 A=0.2114 C=0.0000, G=0.7886
Allele Frequency Aggregator Other Sub 6050 A=0.2428 C=0.0000, G=0.7572
Allele Frequency Aggregator Latin American 2 Sub 5778 A=0.2714 C=0.0000, G=0.7286
Allele Frequency Aggregator Latin American 1 Sub 612 A=0.279 C=0.000, G=0.721
Allele Frequency Aggregator Asian Sub 522 A=0.090 C=0.000, G=0.910
Allele Frequency Aggregator South Asian Sub 98 A=0.36 C=0.00, G=0.64
gnomAD - Genomes Global Study-wide 140194 A=0.246879 G=0.753121
gnomAD - Genomes European Sub 75906 A=0.28433 G=0.71567
gnomAD - Genomes African Sub 42018 A=0.18966 G=0.81034
gnomAD - Genomes American Sub 13660 A=0.26354 G=0.73646
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.2086 G=0.7914
gnomAD - Genomes East Asian Sub 3134 A=0.0798 G=0.9202
gnomAD - Genomes Other Sub 2154 A=0.2400 G=0.7600
14KJPN JAPANESE Study-wide 28254 A=0.08700 G=0.91300
8.3KJPN JAPANESE Study-wide 16756 A=0.08630 G=0.91370
1000Genomes_30x Global Study-wide 6404 A=0.2106 G=0.7894
1000Genomes_30x African Sub 1786 A=0.1713 G=0.8287
1000Genomes_30x Europe Sub 1266 A=0.2859 G=0.7141
1000Genomes_30x South Asian Sub 1202 A=0.2770 G=0.7230
1000Genomes_30x East Asian Sub 1170 A=0.0607 G=0.9393
1000Genomes_30x American Sub 980 A=0.283 G=0.717
1000Genomes Global Study-wide 5008 A=0.2075 G=0.7925
1000Genomes African Sub 1322 A=0.1694 G=0.8306
1000Genomes East Asian Sub 1008 A=0.0615 G=0.9385
1000Genomes Europe Sub 1006 A=0.2843 G=0.7157
1000Genomes South Asian Sub 978 A=0.281 G=0.719
1000Genomes American Sub 694 A=0.277 G=0.723
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3134 G=0.6866
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2532 G=0.7468
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2654 G=0.7346
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0799 G=0.9201, T=0.0000
HapMap Global Study-wide 1892 A=0.1644 G=0.8356
HapMap American Sub 770 A=0.206 G=0.794
HapMap African Sub 692 A=0.136 G=0.864
HapMap Asian Sub 254 A=0.043 G=0.957
HapMap Europe Sub 176 A=0.267 G=0.733
Korean Genome Project KOREAN Study-wide 1832 A=0.0802 G=0.9198
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.240 G=0.760
Northern Sweden ACPOP Study-wide 600 A=0.217 G=0.783
SGDP_PRJ Global Study-wide 532 A=0.154 G=0.846
Qatari Global Study-wide 216 A=0.310 G=0.690
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.121 G=0.879
Siberian Global Study-wide 54 A=0.20 G=0.80
The Danish reference pan genome Danish Study-wide 40 A=0.33 G=0.68
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 17 NC_000017.11:g.29577967A>C
GRCh38.p14 chr 17 NC_000017.11:g.29577967A>G
GRCh38.p14 chr 17 NC_000017.11:g.29577967A>T
GRCh37.p13 chr 17 NC_000017.10:g.27904985A>C
GRCh37.p13 chr 17 NC_000017.10:g.27904985A>G
GRCh37.p13 chr 17 NC_000017.10:g.27904985A>T
Gene: GIT1, GIT ArfGAP 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GIT1 transcript variant 1 NM_001085454.2:c.911-225T…

NM_001085454.2:c.911-225T>G

 		N/A Intron Variant
GIT1 transcript variant 2 NM_014030.4:c.884-225T>G N/A Intron Variant
GIT1 transcript variant X1 XM_011524684.3:c.911-225T…

XM_011524684.3:c.911-225T>G

 		N/A Intron Variant
GIT1 transcript variant X2 XM_011524685.3:c.884-225T…

XM_011524685.3:c.884-225T>G

 		N/A Intron Variant
GIT1 transcript variant X3 XM_047435858.1:c.698-225T…

XM_047435858.1:c.698-225T>G

 		N/A Intron Variant
Gene: TP53I13, tumor protein p53 inducible protein 13 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TP53I13 transcript variant 2 NM_001346077.1:c. N/A Genic Downstream Transcript Variant
TP53I13 transcript variant 3 NM_001346078.1:c. N/A Genic Downstream Transcript Variant
TP53I13 transcript variant 4 NM_001346079.2:c. N/A Genic Downstream Transcript Variant
TP53I13 transcript variant 5 NM_001346081.2:c. N/A Genic Downstream Transcript Variant
TP53I13 transcript variant 6 NM_001346082.1:c. N/A Genic Downstream Transcript Variant
TP53I13 transcript variant 1 NM_138349.4:c. N/A Genic Downstream Transcript Variant
TP53I13 transcript variant X1 XM_047436999.1:c.1070-182…

XM_047436999.1:c.1070-1824A>C

 		N/A Intron Variant
TP53I13 transcript variant X2 XM_047437000.1:c.995-1824…

XM_047437000.1:c.995-1824A>C

 		N/A Intron Variant
TP53I13 transcript variant X3 XM_047437001.1:c.995-1824…

XM_047437001.1:c.995-1824A>C

 		N/A Intron Variant
TP53I13 transcript variant X4 XM_047437002.1:c.995-1824…

XM_047437002.1:c.995-1824A>C

 		N/A Intron Variant
TP53I13 transcript variant X10 XM_047437003.1:c.995-1824…

XM_047437003.1:c.995-1824A>C

 		N/A Intron Variant
TP53I13 transcript variant X5 XM_047437004.1:c.995-1824…

XM_047437004.1:c.995-1824A>C

 		N/A Intron Variant
TP53I13 transcript variant X6 XM_047437005.1:c.995-1824…

XM_047437005.1:c.995-1824A>C

 		N/A Intron Variant
TP53I13 transcript variant X7 XM_047437006.1:c.941-1824…

XM_047437006.1:c.941-1824A>C

 		N/A Intron Variant
TP53I13 transcript variant X8 XM_047437007.1:c.923-1824…

XM_047437007.1:c.923-1824A>C

 		N/A Intron Variant
TP53I13 transcript variant X9 XM_047437008.1:c.722-1824…

XM_047437008.1:c.722-1824A>C

 		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= C G T
GRCh38.p14 chr 17 NC_000017.11:g.29577967= NC_000017.11:g.29577967A>C NC_000017.11:g.29577967A>G NC_000017.11:g.29577967A>T
GRCh37.p13 chr 17 NC_000017.10:g.27904985= NC_000017.10:g.27904985A>C NC_000017.10:g.27904985A>G NC_000017.10:g.27904985A>T
GIT1 transcript variant 1 NM_001085454.1:c.911-225= NM_001085454.1:c.911-225T>G NM_001085454.1:c.911-225T>C NM_001085454.1:c.911-225T>A
GIT1 transcript variant 1 NM_001085454.2:c.911-225= NM_001085454.2:c.911-225T>G NM_001085454.2:c.911-225T>C NM_001085454.2:c.911-225T>A
GIT1 transcript variant 2 NM_014030.3:c.884-225= NM_014030.3:c.884-225T>G NM_014030.3:c.884-225T>C NM_014030.3:c.884-225T>A
GIT1 transcript variant 2 NM_014030.4:c.884-225= NM_014030.4:c.884-225T>G NM_014030.4:c.884-225T>C NM_014030.4:c.884-225T>A
GIT1 transcript variant X1 XM_005257967.1:c.911-225= XM_005257967.1:c.911-225T>G XM_005257967.1:c.911-225T>C XM_005257967.1:c.911-225T>A
GIT1 transcript variant X1 XM_011524684.3:c.911-225= XM_011524684.3:c.911-225T>G XM_011524684.3:c.911-225T>C XM_011524684.3:c.911-225T>A
GIT1 transcript variant X2 XM_011524685.3:c.884-225= XM_011524685.3:c.884-225T>G XM_011524685.3:c.884-225T>C XM_011524685.3:c.884-225T>A
GIT1 transcript variant X3 XM_047435858.1:c.698-225= XM_047435858.1:c.698-225T>G XM_047435858.1:c.698-225T>C XM_047435858.1:c.698-225T>A
TP53I13 transcript variant X1 XM_047436999.1:c.1070-1824= XM_047436999.1:c.1070-1824A>C XM_047436999.1:c.1070-1824A>G XM_047436999.1:c.1070-1824A>T
TP53I13 transcript variant X2 XM_047437000.1:c.995-1824= XM_047437000.1:c.995-1824A>C XM_047437000.1:c.995-1824A>G XM_047437000.1:c.995-1824A>T
TP53I13 transcript variant X3 XM_047437001.1:c.995-1824= XM_047437001.1:c.995-1824A>C XM_047437001.1:c.995-1824A>G XM_047437001.1:c.995-1824A>T
TP53I13 transcript variant X4 XM_047437002.1:c.995-1824= XM_047437002.1:c.995-1824A>C XM_047437002.1:c.995-1824A>G XM_047437002.1:c.995-1824A>T
TP53I13 transcript variant X10 XM_047437003.1:c.995-1824= XM_047437003.1:c.995-1824A>C XM_047437003.1:c.995-1824A>G XM_047437003.1:c.995-1824A>T
TP53I13 transcript variant X5 XM_047437004.1:c.995-1824= XM_047437004.1:c.995-1824A>C XM_047437004.1:c.995-1824A>G XM_047437004.1:c.995-1824A>T
TP53I13 transcript variant X6 XM_047437005.1:c.995-1824= XM_047437005.1:c.995-1824A>C XM_047437005.1:c.995-1824A>G XM_047437005.1:c.995-1824A>T
TP53I13 transcript variant X7 XM_047437006.1:c.941-1824= XM_047437006.1:c.941-1824A>C XM_047437006.1:c.941-1824A>G XM_047437006.1:c.941-1824A>T
TP53I13 transcript variant X8 XM_047437007.1:c.923-1824= XM_047437007.1:c.923-1824A>C XM_047437007.1:c.923-1824A>G XM_047437007.1:c.923-1824A>T
TP53I13 transcript variant X9 XM_047437008.1:c.722-1824= XM_047437008.1:c.722-1824A>C XM_047437008.1:c.722-1824A>G XM_047437008.1:c.722-1824A>T
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#.

118 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss786583 Aug 11, 2000 (83)
2 KWOK ss878240 Oct 04, 2000 (86)
3 KWOK ss878836 Oct 04, 2000 (86)
4 KWOK ss1868377 Oct 18, 2000 (87)
5 KWOK ss1868799 Oct 18, 2000 (87)
6 CSHL-HAPMAP ss20040313 Feb 27, 2004 (120)
7 SSAHASNP ss21415482 Apr 05, 2004 (121)
8 ABI ss44004377 Mar 14, 2006 (126)
9 ILLUMINA ss75041342 Dec 07, 2007 (129)
10 HGSV ss77565703 Dec 07, 2007 (129)
11 HGSV ss80086557 Dec 15, 2007 (130)
12 HGSV ss84049506 Dec 15, 2007 (130)
13 HGSV ss85521647 Dec 15, 2007 (130)
14 BCMHGSC_JDW ss90566237 Mar 24, 2008 (129)
15 HUMANGENOME_JCVI ss96541210 Feb 06, 2009 (130)
16 BGI ss106502979 Feb 06, 2009 (130)
17 1000GENOMES ss109712012 Jan 24, 2009 (130)
18 1000GENOMES ss113429833 Jan 25, 2009 (130)
19 ILLUMINA-UK ss118030827 Feb 14, 2009 (130)
20 KRIBB_YJKIM ss119360161 Dec 01, 2009 (131)
21 ENSEMBL ss136592029 Dec 01, 2009 (131)
22 ENSEMBL ss137035128 Dec 01, 2009 (131)
23 GMI ss157959577 Dec 01, 2009 (131)
24 ILLUMINA ss160768379 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss168000044 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss169379830 Jul 04, 2010 (132)
27 ILLUMINA ss173988646 Jul 04, 2010 (132)
28 BUSHMAN ss202368128 Jul 04, 2010 (132)
29 BCM-HGSC-SUB ss207956118 Jul 04, 2010 (132)
30 1000GENOMES ss227509961 Jul 14, 2010 (132)
31 1000GENOMES ss237216702 Jul 15, 2010 (132)
32 1000GENOMES ss243521136 Jul 15, 2010 (132)
33 GMI ss282737916 May 04, 2012 (137)
34 PJP ss292035959 May 09, 2011 (134)
35 ILLUMINA ss481224861 May 04, 2012 (137)
36 ILLUMINA ss481248325 May 04, 2012 (137)
37 ILLUMINA ss482234905 Sep 08, 2015 (146)
38 ILLUMINA ss485407718 May 04, 2012 (137)
39 ILLUMINA ss537342706 Sep 08, 2015 (146)
40 TISHKOFF ss565224391 Apr 25, 2013 (138)
41 SSMP ss661023640 Apr 25, 2013 (138)
42 ILLUMINA ss778937993 Aug 21, 2014 (142)
43 ILLUMINA ss783149336 Aug 21, 2014 (142)
44 ILLUMINA ss784105344 Aug 21, 2014 (142)
45 ILLUMINA ss832408514 Apr 01, 2015 (144)
46 ILLUMINA ss834399667 Aug 21, 2014 (142)
47 EVA-GONL ss993022650 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1081001577 Aug 21, 2014 (142)
49 1000GENOMES ss1358310468 Aug 21, 2014 (142)
50 DDI ss1428012462 Apr 01, 2015 (144)
51 EVA_GENOME_DK ss1578126250 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1635480000 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1678474033 Apr 01, 2015 (144)
54 EVA_DECODE ss1697063564 Apr 01, 2015 (144)
55 EVA_SVP ss1713576591 Apr 01, 2015 (144)
56 ILLUMINA ss1752219894 Sep 08, 2015 (146)
57 HAMMER_LAB ss1808747438 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1936480033 Feb 12, 2016 (147)
59 GENOMED ss1968374275 Jul 19, 2016 (147)
60 JJLAB ss2029021095 Sep 14, 2016 (149)
61 USC_VALOUEV ss2157484714 Dec 20, 2016 (150)
62 HUMAN_LONGEVITY ss2216184992 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2629006384 Nov 08, 2017 (151)
64 ILLUMINA ss2633386785 Nov 08, 2017 (151)
65 GRF ss2702044247 Nov 08, 2017 (151)
66 GNOMAD ss2948853834 Nov 08, 2017 (151)
67 AFFY ss2985091173 Nov 08, 2017 (151)
68 AFFY ss2985727837 Nov 08, 2017 (151)
69 SWEGEN ss3015390788 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3028331138 Nov 08, 2017 (151)
71 CSHL ss3351708673 Nov 08, 2017 (151)
72 ILLUMINA ss3627648754 Oct 12, 2018 (152)
73 ILLUMINA ss3631368564 Oct 12, 2018 (152)
74 ILLUMINA ss3633138740 Oct 12, 2018 (152)
75 ILLUMINA ss3633846078 Oct 12, 2018 (152)
76 ILLUMINA ss3634670184 Oct 12, 2018 (152)
77 ILLUMINA ss3635533920 Oct 12, 2018 (152)
78 ILLUMINA ss3636360256 Oct 12, 2018 (152)
79 ILLUMINA ss3637285438 Oct 12, 2018 (152)
80 ILLUMINA ss3638155487 Oct 12, 2018 (152)
81 ILLUMINA ss3640377499 Oct 12, 2018 (152)
82 ILLUMINA ss3641079164 Oct 12, 2018 (152)
83 ILLUMINA ss3641374635 Oct 12, 2018 (152)
84 ILLUMINA ss3643134408 Oct 12, 2018 (152)
85 URBANLAB ss3650635377 Oct 12, 2018 (152)
86 ILLUMINA ss3653863032 Oct 12, 2018 (152)
87 EGCUT_WGS ss3682295461 Jul 13, 2019 (153)
88 EVA_DECODE ss3700296396 Jul 13, 2019 (153)
89 ACPOP ss3741955823 Jul 13, 2019 (153)
90 ILLUMINA ss3744970498 Jul 13, 2019 (153)
91 EVA ss3754568025 Jul 13, 2019 (153)
92 ILLUMINA ss3772468431 Jul 13, 2019 (153)
93 PACBIO ss3788179886 Jul 13, 2019 (153)
94 PACBIO ss3793142343 Jul 13, 2019 (153)
95 PACBIO ss3798028249 Jul 13, 2019 (153)
96 KHV_HUMAN_GENOMES ss3819845092 Jul 13, 2019 (153)
97 EVA ss3834826908 Apr 27, 2020 (154)
98 EVA ss3841023725 Apr 27, 2020 (154)
99 EVA ss3846520548 Apr 27, 2020 (154)
100 SGDP_PRJ ss3885567508 Apr 27, 2020 (154)
101 KRGDB ss3935217800 Apr 27, 2020 (154)
102 KOGIC ss3978699340 Apr 27, 2020 (154)
103 TOPMED ss5032971207 Apr 26, 2021 (155)
104 TOMMO_GENOMICS ss5221997855 Apr 26, 2021 (155)
105 1000G_HIGH_COVERAGE ss5302823222 Oct 17, 2022 (156)
106 EVA ss5315880823 Oct 17, 2022 (156)
107 EVA ss5427044254 Oct 17, 2022 (156)
108 HUGCELL_USP ss5495922562 Oct 17, 2022 (156)
109 1000G_HIGH_COVERAGE ss5606394946 Oct 17, 2022 (156)
110 SANFORD_IMAGENETICS ss5659931806 Oct 17, 2022 (156)
111 TOMMO_GENOMICS ss5778073100 Oct 17, 2022 (156)
112 EVA ss5799973289 Oct 17, 2022 (156)
113 YY_MCH ss5816472444 Oct 17, 2022 (156)
114 EVA ss5833866679 Oct 17, 2022 (156)
115 EVA ss5851777699 Oct 17, 2022 (156)
116 EVA ss5913622932 Oct 17, 2022 (156)
117 EVA ss5951328476 Oct 17, 2022 (156)
118 EVA ss5980960382 Oct 17, 2022 (156)
119 1000Genomes NC_000017.10 - 27904985 Oct 12, 2018 (152)
120 1000Genomes_30x NC_000017.11 - 29577967 Oct 17, 2022 (156)
121 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 27904985 Oct 12, 2018 (152)
122 Genetic variation in the Estonian population NC_000017.10 - 27904985 Oct 12, 2018 (152)
123 The Danish reference pan genome NC_000017.10 - 27904985 Apr 27, 2020 (154)
124 gnomAD - Genomes NC_000017.11 - 29577967 Apr 26, 2021 (155)
125 Genome of the Netherlands Release 5 NC_000017.10 - 27904985 Apr 27, 2020 (154)
126 HapMap NC_000017.11 - 29577967 Apr 27, 2020 (154)
127 KOREAN population from KRGDB NC_000017.10 - 27904985 Apr 27, 2020 (154)
128 Korean Genome Project NC_000017.11 - 29577967 Apr 27, 2020 (154)
129 Northern Sweden NC_000017.10 - 27904985 Jul 13, 2019 (153)
130 Qatari NC_000017.10 - 27904985 Apr 27, 2020 (154)
131 SGDP_PRJ NC_000017.10 - 27904985 Apr 27, 2020 (154)
132 Siberian NC_000017.10 - 27904985 Apr 27, 2020 (154)
133 8.3KJPN NC_000017.10 - 27904985 Apr 26, 2021 (155)
134 14KJPN NC_000017.11 - 29577967 Oct 17, 2022 (156)
135 TopMed NC_000017.11 - 29577967 Apr 26, 2021 (155)
136 UK 10K study - Twins NC_000017.10 - 27904985 Oct 12, 2018 (152)
137 A Vietnamese Genetic Variation Database NC_000017.10 - 27904985 Jul 13, 2019 (153)
138 ALFA NC_000017.11 - 29577967 Apr 26, 2021 (155)
Help

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

Associated ID History Updated (Build)
rs60796696 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
5224297114 NC_000017.11:29577966:A:C NC_000017.11:29577966:A:C (self)
ss77565703, ss80086557, ss84049506, ss85521647, ss90566237, ss109712012, ss113429833, ss118030827, ss160768379, ss168000044, ss169379830, ss202368128, ss207956118, ss282737916, ss292035959, ss481224861, ss1697063564, ss1713576591, ss3643134408 NC_000017.9:24929110:A:G NC_000017.11:29577966:A:G (self)
71539598, 39657196, 28033709, 4329752, 17678768, 42395194, 15240688, 18521955, 37584488, 10001068, 79967162, 39657196, 8781353, ss227509961, ss237216702, ss243521136, ss481248325, ss482234905, ss485407718, ss537342706, ss565224391, ss661023640, ss778937993, ss783149336, ss784105344, ss832408514, ss834399667, ss993022650, ss1081001577, ss1358310468, ss1428012462, ss1578126250, ss1635480000, ss1678474033, ss1752219894, ss1808747438, ss1936480033, ss1968374275, ss2029021095, ss2157484714, ss2629006384, ss2633386785, ss2702044247, ss2948853834, ss2985091173, ss2985727837, ss3015390788, ss3351708673, ss3627648754, ss3631368564, ss3633138740, ss3633846078, ss3634670184, ss3635533920, ss3636360256, ss3637285438, ss3638155487, ss3640377499, ss3641079164, ss3641374635, ss3653863032, ss3682295461, ss3741955823, ss3744970498, ss3754568025, ss3772468431, ss3788179886, ss3793142343, ss3798028249, ss3834826908, ss3841023725, ss3885567508, ss3935217800, ss5221997855, ss5315880823, ss5427044254, ss5659931806, ss5799973289, ss5833866679, ss5951328476, ss5980960382 NC_000017.10:27904984:A:G NC_000017.11:29577966:A:G (self)
93920881, 504678068, 1474210, 35077341, 111910204, 248516869, 5224297114, ss2216184992, ss3028331138, ss3650635377, ss3700296396, ss3819845092, ss3846520548, ss3978699340, ss5032971207, ss5302823222, ss5495922562, ss5606394946, ss5778073100, ss5816472444, ss5851777699, ss5913622932 NC_000017.11:29577966:A:G NC_000017.11:29577966:A:G (self)
ss20040313, ss21415482 NT_010799.14:2641977:A:G NC_000017.11:29577966:A:G (self)
ss786583, ss878240, ss878836, ss1868377, ss1868799, ss44004377, ss75041342, ss96541210, ss106502979, ss119360161, ss136592029, ss137035128, ss157959577, ss173988646 NT_010799.15:2641978:A:G NC_000017.11:29577966:A:G (self)
42395194, ss3935217800 NC_000017.10:27904984:A:T NC_000017.11:29577966:A:T (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 rs614334

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.post761+d5e8e07