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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.

rs7896594

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6280266 (GRCh38.p13) 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
G=0.376376 (99623/264690, TOPMED)
G=0.365670 (51215/140058, GnomAD)
G=0.32625 (25700/78774, ALFA) (+ 16 more)
A=0.32661 (5474/16760, 8.3KJPN)
G=0.4908 (2458/5008, 1000G)
G=0.3219 (1442/4480, Estonian)
G=0.2854 (1100/3854, ALSPAC)
G=0.2894 (1073/3708, TWINSUK)
A=0.3188 (934/2930, KOREAN)
G=0.4515 (941/2084, HGDP_Stanford)
G=0.4672 (883/1890, HapMap)
G=0.278 (277/998, GoNL)
G=0.302 (181/600, NorthernSweden)
G=0.308 (130/422, SGDP_PRJ)
G=0.227 (49/216, Qatari)
A=0.310 (65/210, Vietnamese)
G=0.28 (11/40, GENOME_DK)
G=0.28 (11/40, Siberian)
G=0.00 (0/12, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 78774 G=0.32625 A=0.67375
European Sub 59802 G=0.29429 A=0.70571
African Sub 7822 G=0.4345 A=0.5655
African Others Sub 264 G=0.458 A=0.542
African American Sub 7558 G=0.4337 A=0.5663
Asian Sub 240 G=0.654 A=0.346
East Asian Sub 166 G=0.705 A=0.295
Other Asian Sub 74 G=0.54 A=0.46
Latin American 1 Sub 398 G=0.367 A=0.633
Latin American 2 Sub 3392 G=0.4676 A=0.5324
South Asian Sub 4968 G=0.4056 A=0.5944
Other Sub 2152 G=0.3708 A=0.6292


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 G=0.376376 A=0.623624
gnomAD - Genomes Global Study-wide 140058 G=0.365670 A=0.634330
gnomAD - Genomes European Sub 75870 G=0.30753 A=0.69247
gnomAD - Genomes African Sub 41950 G=0.43135 A=0.56865
gnomAD - Genomes American Sub 13650 G=0.43963 A=0.56037
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.2542 A=0.7458
gnomAD - Genomes East Asian Sub 3118 G=0.6937 A=0.3063
gnomAD - Genomes Other Sub 2150 G=0.3628 A=0.6372
8.3KJPN JAPANESE Study-wide 16760 G=0.67339 A=0.32661
1000Genomes Global Study-wide 5008 G=0.4908 A=0.5092
1000Genomes African Sub 1322 G=0.4614 A=0.5386
1000Genomes East Asian Sub 1008 G=0.7113 A=0.2887
1000Genomes Europe Sub 1006 G=0.3072 A=0.6928
1000Genomes South Asian Sub 978 G=0.474 A=0.526
1000Genomes American Sub 694 G=0.516 A=0.484
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3219 A=0.6781
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2854 A=0.7146
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.2894 A=0.7106
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6812 A=0.3188
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.4515 A=0.5485
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.634 A=0.366
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.382 A=0.618
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.294 A=0.706
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.331 A=0.669
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.446 A=0.554
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.611 A=0.389
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.50 A=0.50
HapMap Global Study-wide 1890 G=0.4672 A=0.5328
HapMap American Sub 768 G=0.474 A=0.526
HapMap African Sub 692 G=0.432 A=0.568
HapMap Asian Sub 254 G=0.677 A=0.323
HapMap Europe Sub 176 G=0.273 A=0.727
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.278 A=0.722
Northern Sweden ACPOP Study-wide 600 G=0.302 A=0.698
SGDP_PRJ Global Study-wide 422 G=0.308 A=0.692
Qatari Global Study-wide 216 G=0.227 A=0.773
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.690 A=0.310
The Danish reference pan genome Danish Study-wide 40 G=0.28 A=0.72
Siberian Global Study-wide 40 G=0.28 A=0.72
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 12 G=0.00 A=1.00
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.p13 chr 10 NC_000010.11:g.6280266G>A
GRCh37.p13 chr 10 NC_000010.10:g.6322229G>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

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
GRCh38.p13 chr 10 NC_000010.11:g.6280266= NC_000010.11:g.6280266G>A
GRCh37.p13 chr 10 NC_000010.10:g.6322229= NC_000010.10:g.6322229G>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#.

90 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12065327 Jul 11, 2003 (116)
2 PERLEGEN ss14904891 Dec 05, 2003 (119)
3 SSAHASNP ss20640822 Apr 05, 2004 (121)
4 AFFY ss65924632 Nov 30, 2006 (127)
5 AFFY ss66508985 Nov 30, 2006 (127)
6 ILLUMINA ss66566580 Nov 30, 2006 (127)
7 ILLUMINA ss67844834 Nov 30, 2006 (127)
8 ILLUMINA ss67999981 Nov 30, 2006 (127)
9 PERLEGEN ss69068748 May 17, 2007 (127)
10 ILLUMINA ss70956951 May 23, 2008 (130)
11 ILLUMINA ss71564539 May 17, 2007 (127)
12 ILLUMINA ss75657390 Dec 06, 2007 (129)
13 AFFY ss76331744 Dec 08, 2007 (130)
14 HGSV ss77301659 Dec 06, 2007 (129)
15 ILLUMINA ss79273961 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss84746415 Dec 14, 2007 (130)
17 BCMHGSC_JDW ss88080981 Mar 23, 2008 (129)
18 BGI ss102850397 Dec 01, 2009 (131)
19 ILLUMINA-UK ss119003997 Feb 15, 2009 (130)
20 ILLUMINA ss122857940 Dec 01, 2009 (131)
21 ENSEMBL ss131661901 Dec 01, 2009 (131)
22 ENSEMBL ss131914130 Dec 01, 2009 (131)
23 ILLUMINA ss154454800 Dec 01, 2009 (131)
24 GMI ss154522893 Dec 01, 2009 (131)
25 ILLUMINA ss159629460 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss167743569 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss170369570 Jul 04, 2010 (132)
28 ILLUMINA ss172365196 Jul 04, 2010 (132)
29 AFFY ss173289159 Jul 04, 2010 (132)
30 ILLUMINA ss174606710 Jul 04, 2010 (132)
31 BUSHMAN ss201097595 Jul 04, 2010 (132)
32 1000GENOMES ss224544595 Jul 14, 2010 (132)
33 1000GENOMES ss235038118 Jul 15, 2010 (132)
34 1000GENOMES ss241773933 Jul 15, 2010 (132)
35 BL ss254025901 May 09, 2011 (134)
36 GMI ss280464799 May 04, 2012 (137)
37 GMI ss286122500 Apr 25, 2013 (138)
38 PJP ss290900188 May 09, 2011 (134)
39 ILLUMINA ss537527979 Sep 08, 2015 (146)
40 TISHKOFF ss561745471 Apr 25, 2013 (138)
41 SSMP ss656251698 Apr 25, 2013 (138)
42 ILLUMINA ss825604479 Apr 01, 2015 (144)
43 ILLUMINA ss833140349 Jul 13, 2019 (153)
44 EVA-GONL ss987157400 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1076731781 Aug 21, 2014 (142)
46 1000GENOMES ss1336130462 Aug 21, 2014 (142)
47 DDI ss1426208874 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1574889292 Apr 01, 2015 (144)
49 EVA_DECODE ss1596805381 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1623911959 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1666905992 Apr 01, 2015 (144)
52 EVA_SVP ss1713154117 Apr 01, 2015 (144)
53 HAMMER_LAB ss1806238355 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1930478337 Feb 12, 2016 (147)
55 GENOMED ss1967049583 Jul 19, 2016 (147)
56 JJLAB ss2025962308 Sep 14, 2016 (149)
57 USC_VALOUEV ss2154204340 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2172359199 Dec 20, 2016 (150)
59 TOPMED ss2335068260 Dec 20, 2016 (150)
60 SYSTEMSBIOZJU ss2627450066 Nov 08, 2017 (151)
61 GRF ss2698428265 Nov 08, 2017 (151)
62 GNOMAD ss2885106101 Nov 08, 2017 (151)
63 SWEGEN ss3005875761 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3026764670 Nov 08, 2017 (151)
65 TOPMED ss3110666050 Nov 08, 2017 (151)
66 CSHL ss3348941979 Nov 08, 2017 (151)
67 ILLUMINA ss3626378197 Oct 12, 2018 (152)
68 ILLUMINA ss3637831854 Oct 12, 2018 (152)
69 ILLUMINA ss3638931209 Oct 12, 2018 (152)
70 ILLUMINA ss3639464927 Oct 12, 2018 (152)
71 ILLUMINA ss3642836749 Oct 12, 2018 (152)
72 URBANLAB ss3649280491 Oct 12, 2018 (152)
73 EGCUT_WGS ss3673402889 Jul 13, 2019 (153)
74 EVA_DECODE ss3689206727 Jul 13, 2019 (153)
75 ACPOP ss3737027005 Jul 13, 2019 (153)
76 EVA ss3747699792 Jul 13, 2019 (153)
77 PACBIO ss3786570240 Jul 13, 2019 (153)
78 PACBIO ss3791764126 Jul 13, 2019 (153)
79 PACBIO ss3796645906 Jul 13, 2019 (153)
80 KHV_HUMAN_GENOMES ss3813062753 Jul 13, 2019 (153)
81 EVA ss3831947081 Apr 26, 2020 (154)
82 EVA ss3839504386 Apr 26, 2020 (154)
83 EVA ss3844970370 Apr 26, 2020 (154)
84 HGDP ss3847374089 Apr 26, 2020 (154)
85 SGDP_PRJ ss3873453662 Apr 26, 2020 (154)
86 KRGDB ss3921389153 Apr 26, 2020 (154)
87 EVA ss3985455323 Apr 26, 2021 (155)
88 EVA ss4017468495 Apr 26, 2021 (155)
89 TOPMED ss4841245635 Apr 26, 2021 (155)
90 TOMMO_GENOMICS ss5196097228 Apr 26, 2021 (155)
91 1000Genomes NC_000010.10 - 6322229 Oct 12, 2018 (152)
92 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6322229 Oct 12, 2018 (152)
93 Genetic variation in the Estonian population NC_000010.10 - 6322229 Oct 12, 2018 (152)
94 The Danish reference pan genome NC_000010.10 - 6322229 Apr 26, 2020 (154)
95 gnomAD - Genomes NC_000010.11 - 6280266 Apr 26, 2021 (155)
96 Genome of the Netherlands Release 5 NC_000010.10 - 6322229 Apr 26, 2020 (154)
97 HGDP-CEPH-db Supplement 1 NC_000010.9 - 6362235 Apr 26, 2020 (154)
98 HapMap NC_000010.11 - 6280266 Apr 26, 2020 (154)
99 KOREAN population from KRGDB NC_000010.10 - 6322229 Apr 26, 2020 (154)
100 Northern Sweden NC_000010.10 - 6322229 Jul 13, 2019 (153)
101 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 6322229 Apr 26, 2021 (155)
102 Qatari NC_000010.10 - 6322229 Apr 26, 2020 (154)
103 SGDP_PRJ NC_000010.10 - 6322229 Apr 26, 2020 (154)
104 Siberian NC_000010.10 - 6322229 Apr 26, 2020 (154)
105 8.3KJPN NC_000010.10 - 6322229 Apr 26, 2021 (155)
106 TopMed NC_000010.11 - 6280266 Apr 26, 2021 (155)
107 UK 10K study - Twins NC_000010.10 - 6322229 Oct 12, 2018 (152)
108 A Vietnamese Genetic Variation Database NC_000010.10 - 6322229 Jul 13, 2019 (153)
109 ALFA NC_000010.11 - 6280266 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)
rs56553154 May 23, 2008 (130)
rs57402680 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77301659, ss3638931209, ss3639464927 NC_000010.8:6362234:G:A NC_000010.11:6280265:G:A (self)
51981, ss66508985, ss76331744, ss88080981, ss119003997, ss167743569, ss170369570, ss173289159, ss201097595, ss254025901, ss280464799, ss286122500, ss290900188, ss825604479, ss1596805381, ss1713154117, ss3642836749, ss3847374089 NC_000010.9:6362234:G:A NC_000010.11:6280265:G:A (self)
48471793, 26932390, 19141137, 2014495, 12012284, 28566547, 10311870, 681250, 12520267, 25470642, 6720694, 54066535, 26932390, 5978632, ss224544595, ss235038118, ss241773933, ss537527979, ss561745471, ss656251698, ss833140349, ss987157400, ss1076731781, ss1336130462, ss1426208874, ss1574889292, ss1623911959, ss1666905992, ss1806238355, ss1930478337, ss1967049583, ss2025962308, ss2154204340, ss2335068260, ss2627450066, ss2698428265, ss2885106101, ss3005875761, ss3348941979, ss3626378197, ss3637831854, ss3673402889, ss3737027005, ss3747699792, ss3786570240, ss3791764126, ss3796645906, ss3831947081, ss3839504386, ss3873453662, ss3921389153, ss3985455323, ss4017468495, ss5196097228 NC_000010.10:6322228:G:A NC_000010.11:6280265:G:A (self)
342418059, 330093, 35685469, 56791290, 3089264495, ss2172359199, ss3026764670, ss3110666050, ss3649280491, ss3689206727, ss3813062753, ss3844970370, ss4841245635 NC_000010.11:6280265:G:A NC_000010.11:6280265:G:A (self)
ss14904891, ss65924632, ss66566580, ss67844834, ss67999981, ss69068748, ss70956951, ss71564539, ss75657390, ss79273961, ss84746415, ss102850397, ss122857940, ss131661901, ss131914130, ss154454800, ss154522893, ss159629460, ss172365196, ss174606710 NT_008705.16:6262228:G:A NC_000010.11:6280265:G:A (self)
ss12065327, ss20640822 NT_077569.2:685124:G:A NC_000010.11:6280265: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.

No publications for rs7896594

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.post629+eb05767