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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.

rs902846

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:24509520 (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>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.301349 (79764/264690, TOPMED)
A=0.300985 (42153/140050, GnomAD)
G=0.34362 (9710/28258, 14KJPN) (+ 17 more)
A=0.29377 (6974/23740, ALFA)
G=0.34010 (5700/16760, 8.3KJPN)
A=0.3668 (2349/6404, 1000G_30x)
A=0.3748 (1877/5008, 1000G)
A=0.3132 (1403/4480, Estonian)
A=0.3534 (1362/3854, ALSPAC)
A=0.3457 (1282/3708, TWINSUK)
G=0.2842 (832/2928, KOREAN)
A=0.3388 (637/1880, HapMap)
G=0.2735 (501/1832, Korea1K)
A=0.3492 (396/1134, Daghestan)
A=0.315 (314/998, GoNL)
A=0.302 (181/600, NorthernSweden)
A=0.241 (102/424, SGDP_PRJ)
A=0.315 (68/216, Qatari)
A=0.31 (13/42, Siberian)
A=0.42 (17/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADAM7-AS1 : Intron Variant
ADAM7-AS2 : Intron Variant
ADAM7 : 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 23740 A=0.29377 G=0.70623, T=0.00000
European Sub 15386 A=0.32861 G=0.67139, T=0.00000
African Sub 6234 A=0.1992 G=0.8008, T=0.0000
African Others Sub 208 A=0.135 G=0.865, T=0.000
African American Sub 6026 A=0.2015 G=0.7985, T=0.0000
Asian Sub 124 A=0.710 G=0.290, T=0.000
East Asian Sub 96 A=0.73 G=0.27, T=0.00
Other Asian Sub 28 A=0.64 G=0.36, T=0.00
Latin American 1 Sub 168 A=0.226 G=0.774, T=0.000
Latin American 2 Sub 670 A=0.273 G=0.727, T=0.000
South Asian Sub 98 A=0.36 G=0.64, T=0.00
Other Sub 1060 A=0.3132 G=0.6868, T=0.0000


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=0.301349 G=0.698651
gnomAD - Genomes Global Study-wide 140050 A=0.300985 G=0.699015
gnomAD - Genomes European Sub 75836 A=0.33818 G=0.66182
gnomAD - Genomes African Sub 41972 A=0.20144 G=0.79856
gnomAD - Genomes American Sub 13642 A=0.31000 G=0.69000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.2566 G=0.7434
gnomAD - Genomes East Asian Sub 3124 A=0.7318 G=0.2682
gnomAD - Genomes Other Sub 2152 A=0.3178 G=0.6822
14KJPN JAPANESE Study-wide 28258 A=0.65638 G=0.34362
Allele Frequency Aggregator Total Global 23740 A=0.29377 G=0.70623, T=0.00000
Allele Frequency Aggregator European Sub 15386 A=0.32861 G=0.67139, T=0.00000
Allele Frequency Aggregator African Sub 6234 A=0.1992 G=0.8008, T=0.0000
Allele Frequency Aggregator Other Sub 1060 A=0.3132 G=0.6868, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 670 A=0.273 G=0.727, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 168 A=0.226 G=0.774, T=0.000
Allele Frequency Aggregator Asian Sub 124 A=0.710 G=0.290, T=0.000
Allele Frequency Aggregator South Asian Sub 98 A=0.36 G=0.64, T=0.00
8.3KJPN JAPANESE Study-wide 16760 A=0.65990 G=0.34010
1000Genomes_30x Global Study-wide 6404 A=0.3668 G=0.6332
1000Genomes_30x African Sub 1786 A=0.1971 G=0.8029
1000Genomes_30x Europe Sub 1266 A=0.3586 G=0.6414
1000Genomes_30x South Asian Sub 1202 A=0.3910 G=0.6090
1000Genomes_30x East Asian Sub 1170 A=0.7000 G=0.3000
1000Genomes_30x American Sub 980 A=0.259 G=0.741
1000Genomes Global Study-wide 5008 A=0.3748 G=0.6252
1000Genomes African Sub 1322 A=0.1921 G=0.8079
1000Genomes East Asian Sub 1008 A=0.7004 G=0.2996
1000Genomes Europe Sub 1006 A=0.3549 G=0.6451
1000Genomes South Asian Sub 978 A=0.389 G=0.611
1000Genomes American Sub 694 A=0.259 G=0.741
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3132 G=0.6868
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3534 G=0.6466
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3457 G=0.6543
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.7158 G=0.2842
HapMap Global Study-wide 1880 A=0.3388 G=0.6612
HapMap American Sub 766 A=0.398 G=0.602
HapMap African Sub 692 A=0.136 G=0.864
HapMap Asian Sub 248 A=0.734 G=0.266
HapMap Europe Sub 174 A=0.322 G=0.678
Korean Genome Project KOREAN Study-wide 1832 A=0.7265 G=0.2735
Genome-wide autozygosity in Daghestan Global Study-wide 1134 A=0.3492 G=0.6508
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.318 G=0.682
Genome-wide autozygosity in Daghestan Near_East Sub 142 A=0.324 G=0.676
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.443 G=0.557
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.343 G=0.657
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.48 G=0.52
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.33 G=0.67
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.315 G=0.685
Northern Sweden ACPOP Study-wide 600 A=0.302 G=0.698
SGDP_PRJ Global Study-wide 424 A=0.241 G=0.759
Qatari Global Study-wide 216 A=0.315 G=0.685
Siberian Global Study-wide 42 A=0.31 G=0.69
The Danish reference pan genome Danish Study-wide 40 A=0.42 G=0.57
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 8 NC_000008.11:g.24509520A>G
GRCh38.p14 chr 8 NC_000008.11:g.24509520A>T
GRCh37.p13 chr 8 NC_000008.10:g.24367033A>G
GRCh37.p13 chr 8 NC_000008.10:g.24367033A>T
Gene: ADAM7, ADAM metallopeptidase domain 7 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ADAM7 transcript NM_003817.4:c.*974= N/A 3 Prime UTR Variant
Gene: ADAM7-AS1, ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADAM7-AS1 transcript NR_125808.1:n. N/A Intron Variant
Gene: ADAM7-AS2, ADAM7 antisense RNA 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADAM7-AS2 transcript NR_125809.1: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= G T
GRCh38.p14 chr 8 NC_000008.11:g.24509520= NC_000008.11:g.24509520A>G NC_000008.11:g.24509520A>T
GRCh37.p13 chr 8 NC_000008.10:g.24367033= NC_000008.10:g.24367033A>G NC_000008.10:g.24367033A>T
ADAM7 transcript NM_003817.4:c.*974= NM_003817.4:c.*974A>G NM_003817.4:c.*974A>T
ADAM7 transcript NM_003817.3:c.*974= NM_003817.3:c.*974A>G NM_003817.3:c.*974A>T
ADAM7 transcript variant X6 XM_005273673.1:c.2209-2646= XM_005273673.1:c.2209-2646A>G XM_005273673.1:c.2209-2646A>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#.

87 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1335015 Oct 05, 2000 (86)
2 BCM_SSAHASNP ss10439977 Jul 11, 2003 (116)
3 SSAHASNP ss22741177 Apr 05, 2004 (121)
4 PERLEGEN ss24500436 Sep 20, 2004 (123)
5 ABI ss44862202 Mar 14, 2006 (126)
6 ILLUMINA ss65778466 Oct 13, 2006 (127)
7 ILLUMINA ss74889153 Dec 06, 2007 (129)
8 HGSV ss78272328 Dec 06, 2007 (129)
9 HGSV ss78886928 Dec 06, 2007 (129)
10 HGSV ss82558172 Dec 15, 2007 (130)
11 HUMANGENOME_JCVI ss97860223 Feb 05, 2009 (130)
12 BGI ss104515409 Dec 01, 2009 (131)
13 1000GENOMES ss112918970 Jan 25, 2009 (130)
14 1000GENOMES ss115148461 Jan 25, 2009 (130)
15 ILLUMINA-UK ss115870681 Feb 14, 2009 (130)
16 KRIBB_YJKIM ss119372761 Dec 01, 2009 (131)
17 ENSEMBL ss134448728 Dec 01, 2009 (131)
18 GMI ss156157628 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss162252128 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss164204361 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss166407094 Jul 04, 2010 (132)
22 ILLUMINA ss174775626 Jul 04, 2010 (132)
23 BUSHMAN ss198932394 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss208711521 Jul 04, 2010 (132)
25 1000GENOMES ss223606494 Jul 14, 2010 (132)
26 1000GENOMES ss234367451 Jul 15, 2010 (132)
27 1000GENOMES ss241239120 Jul 15, 2010 (132)
28 GMI ss279737682 May 04, 2012 (137)
29 GMI ss285813999 Apr 25, 2013 (138)
30 PJP ss294241081 May 09, 2011 (134)
31 ILLUMINA ss537573789 Sep 08, 2015 (146)
32 TISHKOFF ss560625645 Apr 25, 2013 (138)
33 SSMP ss655060895 Apr 25, 2013 (138)
34 EVA-GONL ss985311527 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1075369421 Aug 21, 2014 (142)
36 1000GENOMES ss1329065562 Aug 21, 2014 (142)
37 HAMMER_LAB ss1397521354 Sep 08, 2015 (146)
38 DDI ss1431453121 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1582609027 Apr 01, 2015 (144)
40 EVA_DECODE ss1594903662 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1620215314 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1663209347 Apr 01, 2015 (144)
43 EVA_SVP ss1713024107 Apr 01, 2015 (144)
44 HAMMER_LAB ss1805450366 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1928601389 Feb 12, 2016 (147)
46 GENOMED ss1970938791 Jul 19, 2016 (147)
47 JJLAB ss2025001564 Sep 14, 2016 (149)
48 USC_VALOUEV ss2153223275 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2301601674 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2626984902 Nov 08, 2017 (151)
51 GRF ss2708984850 Nov 08, 2017 (151)
52 GNOMAD ss2864505708 Nov 08, 2017 (151)
53 SWEGEN ss3002862275 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3026291330 Nov 08, 2017 (151)
55 CSHL ss3348097978 Nov 08, 2017 (151)
56 ILLUMINA ss3630022828 Oct 12, 2018 (152)
57 ILLUMINA ss3638750637 Oct 12, 2018 (152)
58 ILLUMINA ss3643682236 Oct 12, 2018 (152)
59 URBANLAB ss3648875912 Oct 12, 2018 (152)
60 EGCUT_WGS ss3670545718 Jul 13, 2019 (153)
61 EVA_DECODE ss3721630921 Jul 13, 2019 (153)
62 ACPOP ss3735499164 Jul 13, 2019 (153)
63 EVA ss3767765445 Jul 13, 2019 (153)
64 PACBIO ss3786096396 Jul 13, 2019 (153)
65 PACBIO ss3791361476 Jul 13, 2019 (153)
66 PACBIO ss3796242693 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3810927235 Jul 13, 2019 (153)
68 EVA ss3831073377 Apr 26, 2020 (154)
69 EVA ss3839046046 Apr 26, 2020 (154)
70 EVA ss3844504236 Apr 26, 2020 (154)
71 SGDP_PRJ ss3869515192 Apr 26, 2020 (154)
72 KRGDB ss3916946815 Apr 26, 2020 (154)
73 KOGIC ss3963478595 Apr 26, 2020 (154)
74 TOPMED ss4779346502 Apr 26, 2021 (155)
75 TOMMO_GENOMICS ss5187817612 Apr 26, 2021 (155)
76 1000G_HIGH_COVERAGE ss5276461660 Oct 14, 2022 (156)
77 EVA ss5379885203 Oct 14, 2022 (156)
78 HUGCELL_USP ss5473099237 Oct 14, 2022 (156)
79 EVA ss5509286122 Oct 14, 2022 (156)
80 1000G_HIGH_COVERAGE ss5566449330 Oct 14, 2022 (156)
81 SANFORD_IMAGENETICS ss5644999193 Oct 14, 2022 (156)
82 TOMMO_GENOMICS ss5729483129 Oct 14, 2022 (156)
83 YY_MCH ss5809548241 Oct 14, 2022 (156)
84 EVA ss5830274336 Oct 14, 2022 (156)
85 EVA ss5856302628 Oct 14, 2022 (156)
86 EVA ss5888175131 Oct 14, 2022 (156)
87 EVA ss5974182736 Oct 14, 2022 (156)
88 1000Genomes NC_000008.10 - 24367033 Oct 12, 2018 (152)
89 1000Genomes_30x NC_000008.11 - 24509520 Oct 14, 2022 (156)
90 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 24367033 Oct 12, 2018 (152)
91 Genome-wide autozygosity in Daghestan NC_000008.9 - 24422923 Apr 26, 2020 (154)
92 Genetic variation in the Estonian population NC_000008.10 - 24367033 Oct 12, 2018 (152)
93 The Danish reference pan genome NC_000008.10 - 24367033 Apr 26, 2020 (154)
94 gnomAD - Genomes NC_000008.11 - 24509520 Apr 26, 2021 (155)
95 Genome of the Netherlands Release 5 NC_000008.10 - 24367033 Apr 26, 2020 (154)
96 HapMap NC_000008.11 - 24509520 Apr 26, 2020 (154)
97 KOREAN population from KRGDB NC_000008.10 - 24367033 Apr 26, 2020 (154)
98 Korean Genome Project NC_000008.11 - 24509520 Apr 26, 2020 (154)
99 Northern Sweden NC_000008.10 - 24367033 Jul 13, 2019 (153)
100 Qatari NC_000008.10 - 24367033 Apr 26, 2020 (154)
101 SGDP_PRJ NC_000008.10 - 24367033 Apr 26, 2020 (154)
102 Siberian NC_000008.10 - 24367033 Apr 26, 2020 (154)
103 8.3KJPN NC_000008.10 - 24367033 Apr 26, 2021 (155)
104 14KJPN NC_000008.11 - 24509520 Oct 14, 2022 (156)
105 TopMed NC_000008.11 - 24509520 Apr 26, 2021 (155)
106 UK 10K study - Twins NC_000008.10 - 24367033 Oct 12, 2018 (152)
107 ALFA NC_000008.11 - 24509520 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)
rs17739728 Oct 08, 2004 (123)
rs58988371 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
495240, ss78272328, ss78886928, ss82558172, ss112918970, ss115148461, ss115870681, ss162252128, ss164204361, ss166407094, ss198932394, ss208711521, ss279737682, ss285813999, ss294241081, ss1397521354, ss1594903662, ss1713024107, ss3643682236 NC_000008.9:24422922:A:G NC_000008.11:24509519:A:G (self)
41164750, 22885547, 16283966, 8773965, 10224905, 24124209, 8784029, 10643319, 21532172, 5739629, 45786919, 22885547, ss223606494, ss234367451, ss241239120, ss537573789, ss560625645, ss655060895, ss985311527, ss1075369421, ss1329065562, ss1431453121, ss1582609027, ss1620215314, ss1663209347, ss1805450366, ss1928601389, ss1970938791, ss2025001564, ss2153223275, ss2626984902, ss2708984850, ss2864505708, ss3002862275, ss3348097978, ss3630022828, ss3638750637, ss3670545718, ss3735499164, ss3767765445, ss3786096396, ss3791361476, ss3796242693, ss3831073377, ss3839046046, ss3869515192, ss3916946815, ss5187817612, ss5379885203, ss5509286122, ss5644999193, ss5830274336, ss5974182736 NC_000008.10:24367032:A:G NC_000008.11:24509519:A:G (self)
53975265, 290253676, 3588164, 19856596, 63320233, 616724062, 5497394548, ss2301601674, ss3026291330, ss3648875912, ss3721630921, ss3810927235, ss3844504236, ss3963478595, ss4779346502, ss5276461660, ss5473099237, ss5566449330, ss5729483129, ss5809548241, ss5856302628, ss5888175131 NC_000008.11:24509519:A:G NC_000008.11:24509519:A:G (self)
ss10439977 NT_023666.15:2741290:A:G NC_000008.11:24509519:A:G (self)
ss22741177 NT_023666.16:2741290:A:G NC_000008.11:24509519:A:G (self)
ss1335015, ss24500436, ss44862202, ss65778466, ss74889153, ss97860223, ss104515409, ss119372761, ss134448728, ss156157628, ss174775626 NT_167187.1:12225178:A:G NC_000008.11:24509519:A:G (self)
5497394548 NC_000008.11:24509519:A:T NC_000008.11:24509519: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 rs902846

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