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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.

rs3847794

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:94135049 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.251426 (66550/264690, TOPMED)
G=0.262294 (36750/140110, GnomAD)
G=0.320610 (37982/118468, ALFA) (+ 20 more)
G=0.15213 (4299/28258, 14KJPN)
G=0.15483 (2595/16760, 8.3KJPN)
G=0.1665 (1066/6404, 1000G_30x)
G=0.1653 (828/5008, 1000G)
G=0.3982 (1784/4480, Estonian)
G=0.1451 (425/2930, KOREAN)
G=0.2152 (448/2082, HGDP_Stanford)
G=0.1460 (275/1884, HapMap)
G=0.1305 (239/1832, Korea1K)
G=0.2385 (270/1132, Daghestan)
G=0.360 (359/998, GoNL)
G=0.118 (93/790, PRJEB37584)
G=0.391 (245/626, Chileans)
G=0.343 (206/600, NorthernSweden)
G=0.236 (51/216, Qatari)
G=0.084 (18/214, Vietnamese)
A=0.410 (73/178, SGDP_PRJ)
G=0.25 (14/56, Ancient Sardinia)
G=0.33 (13/40, GENOME_DK)
A=0.45 (10/22, Siberian)
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 118562 A=0.679459 G=0.320541
European Sub 89640 A=0.64325 G=0.35675
African Sub 9832 A=0.9328 G=0.0672
African Others Sub 332 A=0.988 G=0.012
African American Sub 9500 A=0.9308 G=0.0692
Asian Sub 572 A=0.883 G=0.117
East Asian Sub 458 A=0.884 G=0.116
Other Asian Sub 114 A=0.877 G=0.123
Latin American 1 Sub 828 A=0.742 G=0.258
Latin American 2 Sub 7640 A=0.6370 G=0.3630
South Asian Sub 5030 A=0.8503 G=0.1497
Other Sub 5020 A=0.6898 G=0.3102


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=0.748574 G=0.251426
gnomAD - Genomes Global Study-wide 140110 A=0.737706 G=0.262294
gnomAD - Genomes European Sub 75830 A=0.64256 G=0.35744
gnomAD - Genomes African Sub 42024 A=0.93087 G=0.06913
gnomAD - Genomes American Sub 13650 A=0.64960 G=0.35040
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.6790 G=0.3210
gnomAD - Genomes East Asian Sub 3130 A=0.8866 G=0.1134
gnomAD - Genomes Other Sub 2152 A=0.7514 G=0.2486
Allele Frequency Aggregator Total Global 118468 A=0.679390 G=0.320610
Allele Frequency Aggregator European Sub 89564 A=0.64317 G=0.35683
Allele Frequency Aggregator African Sub 9832 A=0.9328 G=0.0672
Allele Frequency Aggregator Latin American 2 Sub 7640 A=0.6370 G=0.3630
Allele Frequency Aggregator South Asian Sub 5030 A=0.8503 G=0.1497
Allele Frequency Aggregator Other Sub 5002 A=0.6891 G=0.3109
Allele Frequency Aggregator Latin American 1 Sub 828 A=0.742 G=0.258
Allele Frequency Aggregator Asian Sub 572 A=0.883 G=0.117
14KJPN JAPANESE Study-wide 28258 A=0.84787 G=0.15213
8.3KJPN JAPANESE Study-wide 16760 A=0.84517 G=0.15483
1000Genomes_30x Global Study-wide 6404 A=0.8335 G=0.1665
1000Genomes_30x African Sub 1786 A=0.9866 G=0.0134
1000Genomes_30x Europe Sub 1266 A=0.6659 G=0.3341
1000Genomes_30x South Asian Sub 1202 A=0.8918 G=0.1082
1000Genomes_30x East Asian Sub 1170 A=0.8983 G=0.1017
1000Genomes_30x American Sub 980 A=0.622 G=0.378
1000Genomes Global Study-wide 5008 A=0.8347 G=0.1653
1000Genomes African Sub 1322 A=0.9856 G=0.0144
1000Genomes East Asian Sub 1008 A=0.8938 G=0.1062
1000Genomes Europe Sub 1006 A=0.6630 G=0.3370
1000Genomes South Asian Sub 978 A=0.890 G=0.110
1000Genomes American Sub 694 A=0.633 G=0.367
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6018 G=0.3982
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8549 G=0.1451
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 A=0.7848 G=0.2152
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 A=0.908 G=0.092
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.821 G=0.179
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.757 G=0.243
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.625 G=0.375
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.417 G=0.583
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=1.00 G=0.00
HapMap Global Study-wide 1884 A=0.8540 G=0.1460
HapMap American Sub 766 A=0.786 G=0.214
HapMap African Sub 690 A=0.970 G=0.030
HapMap Asian Sub 254 A=0.882 G=0.118
HapMap Europe Sub 174 A=0.655 G=0.345
Korean Genome Project KOREAN Study-wide 1832 A=0.8695 G=0.1305
Genome-wide autozygosity in Daghestan Global Study-wide 1132 A=0.7615 G=0.2385
Genome-wide autozygosity in Daghestan Daghestan Sub 626 A=0.741 G=0.259
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.806 G=0.194
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.787 G=0.213
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.685 G=0.315
Genome-wide autozygosity in Daghestan South Asian Sub 96 A=0.92 G=0.08
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.67 G=0.33
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.640 G=0.360
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.882 G=0.118
CNV burdens in cranial meningiomas CRM Sub 790 A=0.882 G=0.118
Chileans Chilean Study-wide 626 A=0.609 G=0.391
Northern Sweden ACPOP Study-wide 600 A=0.657 G=0.343
Qatari Global Study-wide 216 A=0.764 G=0.236
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.916 G=0.084
SGDP_PRJ Global Study-wide 178 A=0.410 G=0.590
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 56 A=0.75 G=0.25
The Danish reference pan genome Danish Study-wide 40 A=0.68 G=0.33
Siberian Global Study-wide 22 A=0.45 G=0.55
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 12 NC_000012.12:g.94135049A>G
GRCh37.p13 chr 12 NC_000012.11:g.94528825A>G
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
GRCh38.p14 chr 12 NC_000012.12:g.94135049= NC_000012.12:g.94135049A>G
GRCh37.p13 chr 12 NC_000012.11:g.94528825= NC_000012.11:g.94528825A>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#.

94 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1504702 Oct 08, 2002 (108)
2 TSC-CSHL ss5361312 Oct 08, 2002 (108)
3 TSC-CSHL ss5368746 Oct 08, 2002 (108)
4 SC_JCM ss5697063 Feb 20, 2003 (111)
5 ABI ss38979348 Mar 13, 2006 (126)
6 AFFY ss66433842 Dec 01, 2006 (127)
7 ILLUMINA ss67308165 Dec 01, 2006 (127)
8 ILLUMINA ss67713546 Dec 01, 2006 (127)
9 ILLUMINA ss68223159 Dec 12, 2006 (127)
10 ILLUMINA ss70786813 May 26, 2008 (130)
11 ILLUMINA ss71363731 May 18, 2007 (127)
12 ILLUMINA ss75867205 Dec 06, 2007 (129)
13 AFFY ss76209038 Dec 08, 2007 (130)
14 HGSV ss77626459 Dec 06, 2007 (129)
15 KRIBB_YJKIM ss81971315 Dec 14, 2007 (130)
16 BCMHGSC_JDW ss89324639 Mar 24, 2008 (129)
17 1000GENOMES ss112348434 Jan 25, 2009 (130)
18 ENSEMBL ss133309231 Dec 01, 2009 (131)
19 ILLUMINA ss154274626 Dec 01, 2009 (131)
20 ILLUMINA ss159451344 Dec 01, 2009 (131)
21 ILLUMINA ss160650099 Dec 01, 2009 (131)
22 AFFY ss172818865 Jul 04, 2010 (132)
23 ILLUMINA ss173660606 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss175233944 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss208217370 Jul 04, 2010 (132)
26 1000GENOMES ss236043997 Jul 15, 2010 (132)
27 1000GENOMES ss242579602 Jul 15, 2010 (132)
28 BL ss255300055 May 09, 2011 (134)
29 GMI ss281505664 May 04, 2012 (137)
30 GMI ss286608729 Apr 25, 2013 (138)
31 ILLUMINA ss481815053 Sep 08, 2015 (146)
32 ILLUMINA ss537203006 Sep 08, 2015 (146)
33 TISHKOFF ss563334828 Apr 25, 2013 (138)
34 SSMP ss658910862 Apr 25, 2013 (138)
35 ILLUMINA ss832962889 Jul 13, 2019 (153)
36 EVA-GONL ss989836633 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1078682956 Aug 21, 2014 (142)
38 1000GENOMES ss1346178134 Aug 21, 2014 (142)
39 HAMMER_LAB ss1397641812 Sep 08, 2015 (146)
40 DDI ss1427019573 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1576451735 Apr 01, 2015 (144)
42 EVA_DECODE ss1641936962 Apr 01, 2015 (144)
43 EVA_SVP ss1713348422 Apr 01, 2015 (144)
44 WEILL_CORNELL_DGM ss1933193669 Feb 12, 2016 (147)
45 GENOMED ss1967656118 Jul 19, 2016 (147)
46 JJLAB ss2027349988 Sep 14, 2016 (149)
47 USC_VALOUEV ss2155694588 Dec 20, 2016 (150)
48 HUMAN_LONGEVITY ss2192226723 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2628155207 Nov 08, 2017 (151)
50 GRF ss2700050009 Nov 08, 2017 (151)
51 GNOMAD ss2913869716 Nov 08, 2017 (151)
52 AFFY ss2984987164 Nov 08, 2017 (151)
53 AFFY ss2985624373 Nov 08, 2017 (151)
54 SWEGEN ss3010159033 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3027485017 Nov 08, 2017 (151)
56 CSHL ss3350195923 Nov 08, 2017 (151)
57 ILLUMINA ss3626940280 Oct 12, 2018 (152)
58 ILLUMINA ss3636203579 Oct 12, 2018 (152)
59 ILLUMINA ss3637979205 Oct 12, 2018 (152)
60 ILLUMINA ss3639002817 Oct 12, 2018 (152)
61 ILLUMINA ss3639811713 Oct 12, 2018 (152)
62 ILLUMINA ss3641033495 Oct 12, 2018 (152)
63 ILLUMINA ss3641328261 Oct 12, 2018 (152)
64 ILLUMINA ss3642971398 Oct 12, 2018 (152)
65 ILLUMINA ss3643863086 Oct 12, 2018 (152)
66 ILLUMINA ss3653756896 Oct 12, 2018 (152)
67 EGCUT_WGS ss3677449602 Jul 13, 2019 (153)
68 EVA_DECODE ss3694232242 Jul 13, 2019 (153)
69 ACPOP ss3739278091 Jul 13, 2019 (153)
70 EVA ss3750824483 Jul 13, 2019 (153)
71 KHV_HUMAN_GENOMES ss3816158560 Jul 13, 2019 (153)
72 EVA ss3833267219 Apr 27, 2020 (154)
73 EVA ss3840206596 Apr 27, 2020 (154)
74 EVA ss3845694551 Apr 27, 2020 (154)
75 HGDP ss3847459933 Apr 27, 2020 (154)
76 SGDP_PRJ ss3878873211 Apr 27, 2020 (154)
77 KRGDB ss3927581633 Apr 27, 2020 (154)
78 KOGIC ss3972490771 Apr 27, 2020 (154)
79 EVA ss3984671202 Apr 26, 2021 (155)
80 EVA ss3985606884 Apr 26, 2021 (155)
81 EVA ss4017603653 Apr 26, 2021 (155)
82 TOPMED ss4928756889 Apr 26, 2021 (155)
83 TOMMO_GENOMICS ss5207638864 Apr 26, 2021 (155)
84 1000G_HIGH_COVERAGE ss5291828501 Oct 16, 2022 (156)
85 EVA ss5407491561 Oct 16, 2022 (156)
86 HUGCELL_USP ss5486470356 Oct 16, 2022 (156)
87 1000G_HIGH_COVERAGE ss5589859858 Oct 16, 2022 (156)
88 SANFORD_IMAGENETICS ss5624308748 Oct 16, 2022 (156)
89 SANFORD_IMAGENETICS ss5653730823 Oct 16, 2022 (156)
90 TOMMO_GENOMICS ss5757808163 Oct 16, 2022 (156)
91 YY_MCH ss5813545905 Oct 16, 2022 (156)
92 EVA ss5838354951 Oct 16, 2022 (156)
93 EVA ss5905554008 Oct 16, 2022 (156)
94 EVA ss5945119669 Oct 16, 2022 (156)
95 1000Genomes NC_000012.11 - 94528825 Oct 12, 2018 (152)
96 1000Genomes_30x NC_000012.12 - 94135049 Oct 16, 2022 (156)
97 Chileans NC_000012.11 - 94528825 Apr 27, 2020 (154)
98 Genome-wide autozygosity in Daghestan NC_000012.10 - 93052956 Apr 27, 2020 (154)
99 Genetic variation in the Estonian population NC_000012.11 - 94528825 Oct 12, 2018 (152)
100 The Danish reference pan genome NC_000012.11 - 94528825 Apr 27, 2020 (154)
101 gnomAD - Genomes NC_000012.12 - 94135049 Apr 26, 2021 (155)
102 Genome of the Netherlands Release 5 NC_000012.11 - 94528825 Apr 27, 2020 (154)
103 HGDP-CEPH-db Supplement 1 NC_000012.10 - 93052956 Apr 27, 2020 (154)
104 HapMap NC_000012.12 - 94135049 Apr 27, 2020 (154)
105 KOREAN population from KRGDB NC_000012.11 - 94528825 Apr 27, 2020 (154)
106 Korean Genome Project NC_000012.12 - 94135049 Apr 27, 2020 (154)
107 Northern Sweden NC_000012.11 - 94528825 Jul 13, 2019 (153)
108 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 94528825 Apr 26, 2021 (155)
109 CNV burdens in cranial meningiomas NC_000012.11 - 94528825 Apr 26, 2021 (155)
110 Qatari NC_000012.11 - 94528825 Apr 27, 2020 (154)
111 SGDP_PRJ NC_000012.11 - 94528825 Apr 27, 2020 (154)
112 Siberian NC_000012.11 - 94528825 Apr 27, 2020 (154)
113 8.3KJPN NC_000012.11 - 94528825 Apr 26, 2021 (155)
114 14KJPN NC_000012.12 - 94135049 Oct 16, 2022 (156)
115 TopMed NC_000012.12 - 94135049 Apr 26, 2021 (155)
116 A Vietnamese Genetic Variation Database NC_000012.11 - 94528825 Jul 13, 2019 (153)
117 ALFA NC_000012.12 - 94135049 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)
rs56600696 May 26, 2008 (130)
rs57029172 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77626459, ss3639002817, ss3639811713, ss3643863086 NC_000012.9:93031292:A:G NC_000012.12:94135048:A:G (self)
112612, 137825, ss66433842, ss76209038, ss89324639, ss112348434, ss172818865, ss175233944, ss208217370, ss255300055, ss281505664, ss286608729, ss1397641812, ss1641936962, ss1713348422, ss3642971398, ss3847459933 NC_000012.10:93052955:A:G NC_000012.12:94135048:A:G (self)
58971488, 106261, 23187850, 3079270, 14608167, 34759027, 12562956, 832811, 220697, 15235599, 30890191, 8210942, 65608171, 7267769, ss236043997, ss242579602, ss481815053, ss537203006, ss563334828, ss658910862, ss832962889, ss989836633, ss1078682956, ss1346178134, ss1427019573, ss1576451735, ss1933193669, ss1967656118, ss2027349988, ss2155694588, ss2628155207, ss2700050009, ss2913869716, ss2984987164, ss2985624373, ss3010159033, ss3350195923, ss3626940280, ss3636203579, ss3637979205, ss3641033495, ss3641328261, ss3653756896, ss3677449602, ss3739278091, ss3750824483, ss3833267219, ss3840206596, ss3878873211, ss3927581633, ss3984671202, ss3985606884, ss4017603653, ss5207638864, ss5407491561, ss5624308748, ss5653730823, ss5838354951, ss5945119669 NC_000012.11:94528824:A:G NC_000012.12:94135048:A:G (self)
77385793, 415985447, 880320, 28868772, 91645267, 144302546, 7424876009, ss2192226723, ss3027485017, ss3694232242, ss3816158560, ss3845694551, ss3972490771, ss4928756889, ss5291828501, ss5486470356, ss5589859858, ss5757808163, ss5813545905, ss5905554008 NC_000012.12:94135048:A:G NC_000012.12:94135048:A:G (self)
ss1504702, ss5361312, ss5368746, ss5697063, ss38979348, ss67308165, ss67713546, ss68223159, ss70786813, ss71363731, ss75867205, ss81971315, ss133309231, ss154274626, ss159451344, ss160650099, ss173660606 NT_029419.12:56672130:A:G NC_000012.12:94135048:A:G (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 rs3847794

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