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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs7763064

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr6:142476152 (GRCh38.p7) 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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.38582 (48447/125568, TOPMED)
A=0.3790 (11697/30860, GnomAD)
A=0.411 (2058/5008, 1000G) (+ 2 more)
A=0.282 (1086/3854, ALSPAC)
A=0.289 (1073/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
1 citation
Genomic View
See rs on genome
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.p7 chr 6 NC_000006.12:g.142476152G>A
GRCh37.p13 chr 6 NC_000006.11:g.142797289G>A
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

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").

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Study Population Group Sample Size Ref Allele Alt Allele
Trans-Omics for Precision Medicine Global Study-wide 125568 G=0.61418 A=0.38582
The Genome Aggregation Database Global Study-wide 30860 G=0.6210 A=0.3790
The Genome Aggregation Database European Sub 18436 G=0.7027 A=0.2973
The Genome Aggregation Database African Sub 8686 G=0.427 A=0.573
The Genome Aggregation Database East Asian Sub 1620 G=0.650 A=0.350
The Genome Aggregation Database Other Sub 978 G=0.70 A=0.30
The Genome Aggregation Database American Sub 838 G=0.67 A=0.33
The Genome Aggregation Database Ashkenazi Jewish Sub 302 G=0.68 A=0.32
1000Genomes Global Study-wide 5008 G=0.589 A=0.411
1000Genomes African Sub 1322 G=0.377 A=0.623
1000Genomes East Asian Sub 1008 G=0.652 A=0.348
1000Genomes Europe Sub 1006 G=0.676 A=0.324
1000Genomes South Asian Sub 978 G=0.70 A=0.30
1000Genomes American Sub 694 G=0.62 A=0.38
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.718 A=0.282
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.711 A=0.289
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 G= A Note
GRCh38.p7 chr 6 NC_000006.12:g.142476152G= NC_000006.12:g.14247615...

NC_000006.12:g.142476152G>A

GRCh37.p13 chr 6 NC_000006.11:g.142797289G= NC_000006.11:g.14279728...

NC_000006.11:g.142797289G>A

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#.

5 Frequency, 79 SubSNP submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11817207 Jul 11, 2003 (116)
2 SC_SNP ss13141649 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss17099737 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss20262482 Feb 27, 2004 (120)
5 SSAHASNP ss22377845 Apr 05, 2004 (121)
6 PERLEGEN ss23482324 Sep 20, 2004 (123)
7 ABI ss44772106 Mar 14, 2006 (126)
8 AFFY ss66076877 Dec 01, 2006 (127)
9 AFFY ss76013466 Dec 05, 2007 (129)
10 KRIBB_YJKIM ss82487446 Dec 15, 2007 (130)
11 HGSV ss84256041 Dec 14, 2007 (130)
12 BCMHGSC_JDW ss93571881 Mar 24, 2008 (129)
13 HUMANGENOME_JCVI ss98547978 Feb 04, 2009 (130)
14 BGI ss104367539 Dec 01, 2009 (131)
15 1000GENOMES ss111031048 Jan 25, 2009 (130)
16 1000GENOMES ss115228560 Jan 25, 2009 (130)
17 ILLUMINA-UK ss116745920 Feb 14, 2009 (130)
18 ENSEMBL ss142757752 Dec 01, 2009 (131)
19 ENSEMBL ss144342006 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss164763498 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss167336706 Jul 04, 2010 (132)
22 AFFY ss170410190 Jul 04, 2010 (132)
23 ILLUMINA ss174535796 Jul 04, 2010 (132)
24 BUSHMAN ss202510768 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss207346640 Jul 04, 2010 (132)
26 1000GENOMES ss222722666 Jul 14, 2010 (132)
27 1000GENOMES ss233716473 Jul 15, 2010 (132)
28 1000GENOMES ss240723672 Jul 15, 2010 (132)
29 BL ss254751951 May 09, 2011 (134)
30 GMI ss279053574 May 04, 2012 (137)
31 PJP ss293740328 May 09, 2011 (134)
32 ILLUMINA ss410951823 Sep 17, 2011 (135)
33 EXOME_CHIP ss491392541 May 04, 2012 (137)
34 ILLUMINA ss537511102 Sep 08, 2015 (146)
35 TISHKOFF ss559580689 Apr 25, 2013 (138)
36 SSMP ss653903659 Apr 25, 2013 (138)
37 ILLUMINA ss778712835 Sep 08, 2015 (146)
38 ILLUMINA ss780686780 Sep 08, 2015 (146)
39 ILLUMINA ss783360315 Sep 08, 2015 (146)
40 ILLUMINA ss834172026 Sep 08, 2015 (146)
41 EVA-GONL ss983593622 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1074103125 Aug 21, 2014 (142)
43 1000GENOMES ss1322634554 Aug 21, 2014 (142)
44 HAMMER_LAB ss1397473629 Sep 08, 2015 (146)
45 DDI ss1430920177 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1581930627 Apr 01, 2015 (144)
47 EVA_DECODE ss1593167399 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1616891236 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1659885269 Apr 01, 2015 (144)
50 EVA_SVP ss1712906238 Apr 01, 2015 (144)
51 ILLUMINA ss1752605448 Sep 08, 2015 (146)
52 HAMMER_LAB ss1804711354 Sep 08, 2015 (146)
53 ILLUMINA ss1917811486 Feb 12, 2016 (147)
54 WEILL_CORNELL_DGM ss1926838190 Feb 12, 2016 (147)
55 ILLUMINA ss1946193353 Feb 12, 2016 (147)
56 ILLUMINA ss1958956879 Feb 12, 2016 (147)
57 GENOMED ss1970545715 Jul 19, 2016 (147)
58 JJLAB ss2024077754 Sep 14, 2016 (149)
59 USC_VALOUEV ss2152270070 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2289156244 Dec 20, 2016 (150)
61 TOPMED ss2457834014 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2626530812 Nov 08, 2017 (151)
63 ILLUMINA ss2634521759 Nov 08, 2017 (151)
64 GRF ss2707904032 Nov 08, 2017 (151)
65 GNOMAD ss2846156821 Nov 08, 2017 (151)
66 AFFY ss2985389787 Nov 08, 2017 (151)
67 AFFY ss2986015230 Nov 08, 2017 (151)
68 SWEGEN ss3000091687 Nov 08, 2017 (151)
69 ILLUMINA ss3022674386 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3025829639 Nov 08, 2017 (151)
71 CSHL ss3347267316 Nov 08, 2017 (151)
72 TOPMED ss3514271626 Nov 08, 2017 (151)
73 ILLUMINA ss3629675025 Jul 20, 2018 (151)
74 ILLUMINA ss3629675026 Jul 20, 2018 (151)
75 ILLUMINA ss3632434473 Jul 20, 2018 (151)
76 ILLUMINA ss3635091899 Jul 20, 2018 (151)
77 ILLUMINA ss3638661727 Jul 20, 2018 (151)
78 ILLUMINA ss3640799199 Jul 20, 2018 (151)
79 ILLUMINA ss3644926492 Jul 20, 2018 (151)
80 1000Genomes NC_000006.11 - 142797289 Jul 20, 2018 (151)
81 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 142797289 Jul 20, 2018 (151)
82 The Genome Aggregation Database NC_000006.11 - 142797289 Jul 20, 2018 (151)
83 Trans-Omics for Precision Medicine NC_000006.12 - 142476152 Jul 20, 2018 (151)
84 UK 10K study - Twins NC_000006.11 - 142797289 Jul 20, 2018 (151)
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)
rs57138204 May 23, 2008 (130)
rs58997795 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss84256041 NC_000006.9:142838981:G= NC_000006.12:142476151:G= (self)
ss93571881, ss111031048, ss115228560, ss116745920, ss164763498, ss167336706, ss202510768, ss207346640, ss254751951, ss279053574, ss293740328, ss1397473629, ss1593167399, ss1712906238 NC_000006.10:142838981:G= NC_000006.12:142476151:G= (self)
34517284, 19241817, 186784578, 19241817, ss222722666, ss233716473, ss240723672, ss491392541, ss537511102, ss559580689, ss653903659, ss778712835, ss780686780, ss783360315, ss834172026, ss983593622, ss1074103125, ss1322634554, ss1430920177, ss1581930627, ss1616891236, ss1659885269, ss1752605448, ss1804711354, ss1917811486, ss1926838190, ss1946193353, ss1958956879, ss1970545715, ss2024077754, ss2152270070, ss2457834014, ss2626530812, ss2634521759, ss2707904032, ss2846156821, ss2985389787, ss2986015230, ss3000091687, ss3022674386, ss3347267316, ss3629675025, ss3629675026, ss3632434473, ss3635091899, ss3638661727, ss3640799199, ss3644926492 NC_000006.11:142797288:G= NC_000006.12:142476151:G= (self)
351781933, ss2289156244, ss3025829639, ss3514271626 NC_000006.12:142476151:G= NC_000006.12:142476151:G= (self)
ss11817207, ss13141649 NT_025741.12:46901717:G= NC_000006.12:142476151:G= (self)
ss17099737, ss20262482, ss22377845 NT_025741.13:46901717:G= NC_000006.12:142476151:G= (self)
ss23482324, ss44772106, ss66076877, ss76013466, ss82487446, ss98547978, ss104367539, ss142757752, ss144342006, ss170410190, ss174535796, ss410951823 NT_025741.15:46966745:G= NC_000006.12:142476151:G= (self)
ss84256041 NC_000006.9:142838981:G>A NC_000006.12:142476151:G>A (self)
ss93571881, ss111031048, ss115228560, ss116745920, ss164763498, ss167336706, ss202510768, ss207346640, ss254751951, ss279053574, ss293740328, ss1397473629, ss1593167399, ss1712906238 NC_000006.10:142838981:G>A NC_000006.12:142476151:G>A (self)
34517284, 19241817, 186784578, 19241817, ss222722666, ss233716473, ss240723672, ss491392541, ss537511102, ss559580689, ss653903659, ss778712835, ss780686780, ss783360315, ss834172026, ss983593622, ss1074103125, ss1322634554, ss1430920177, ss1581930627, ss1616891236, ss1659885269, ss1752605448, ss1804711354, ss1917811486, ss1926838190, ss1946193353, ss1958956879, ss1970545715, ss2024077754, ss2152270070, ss2457834014, ss2626530812, ss2634521759, ss2707904032, ss2846156821, ss2985389787, ss2986015230, ss3000091687, ss3022674386, ss3347267316, ss3629675025, ss3629675026, ss3632434473, ss3635091899, ss3638661727, ss3640799199, ss3644926492 NC_000006.11:142797288:G>A NC_000006.12:142476151:G>A (self)
351781933, ss2289156244, ss3025829639, ss3514271626 NC_000006.12:142476151:G>A NC_000006.12:142476151:G>A (self)
ss11817207, ss13141649 NT_025741.12:46901717:G>A NC_000006.12:142476151:G>A (self)
ss17099737, ss20262482, ss22377845 NT_025741.13:46901717:G>A NC_000006.12:142476151:G>A (self)
ss23482324, ss44772106, ss66076877, ss76013466, ss82487446, ss98547978, ss104367539, ss142757752, ss144342006, ss170410190, ss174535796, ss410951823 NT_025741.15:46966745:G>A NC_000006.12:142476151:G>A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs7763064
PMID Title Author Year Journal
20881960 Hundreds of variants clustered in genomic loci and biological pathways affect human height. Lango Allen H et al. 2010 Nature

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: 0.1.4.post833+d3ba21e