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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.

rs12692386

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:9555777 (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
A=0.284597 (75330/264690, TOPMED)
A=0.275969 (38671/140128, GnomAD)
A=0.32520 (16626/51126, ALFA) (+ 15 more)
G=0.19573 (5531/28258, 14KJPN)
G=0.19481 (3265/16760, 8.3KJPN)
A=0.3801 (2434/6404, 1000G_30x)
A=0.3912 (1959/5008, 1000G)
A=0.3344 (1498/4480, Estonian)
A=0.3129 (1206/3854, ALSPAC)
A=0.3217 (1193/3708, TWINSUK)
G=0.1792 (524/2924, KOREAN)
A=0.350 (210/600, NorthernSweden)
G=0.002 (1/534, MGP)
A=0.225 (87/386, SGDP_PRJ)
A=0.130 (28/216, Qatari)
G=0.194 (42/216, Vietnamese)
A=0.42 (17/40, GENOME_DK)
A=0.39 (14/36, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ADAM17 : 5 Prime UTR Variant
Publications
4 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 51126 A=0.32520 G=0.67480
European Sub 36838 A=0.31715 G=0.68285
African Sub 4936 A=0.0646 G=0.9354
African Others Sub 180 A=0.011 G=0.989
African American Sub 4756 A=0.0667 G=0.9333
Asian Sub 438 A=0.792 G=0.208
East Asian Sub 372 A=0.788 G=0.212
Other Asian Sub 66 A=0.82 G=0.18
Latin American 1 Sub 574 A=0.204 G=0.796
Latin American 2 Sub 4896 A=0.6287 G=0.3713
South Asian Sub 162 A=0.494 G=0.506
Other Sub 3282 A=0.3053 G=0.6947


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=0.284597 G=0.715403
gnomAD - Genomes Global Study-wide 140128 A=0.275969 G=0.724031
gnomAD - Genomes European Sub 75854 A=0.33822 G=0.66178
gnomAD - Genomes African Sub 42044 A=0.06831 G=0.93169
gnomAD - Genomes American Sub 13634 A=0.46611 G=0.53389
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.2241 G=0.7759
gnomAD - Genomes East Asian Sub 3124 A=0.7644 G=0.2356
gnomAD - Genomes Other Sub 2148 A=0.3054 G=0.6946
Allele Frequency Aggregator Total Global 51126 A=0.32520 G=0.67480
Allele Frequency Aggregator European Sub 36838 A=0.31715 G=0.68285
Allele Frequency Aggregator African Sub 4936 A=0.0646 G=0.9354
Allele Frequency Aggregator Latin American 2 Sub 4896 A=0.6287 G=0.3713
Allele Frequency Aggregator Other Sub 3282 A=0.3053 G=0.6947
Allele Frequency Aggregator Latin American 1 Sub 574 A=0.204 G=0.796
Allele Frequency Aggregator Asian Sub 438 A=0.792 G=0.208
Allele Frequency Aggregator South Asian Sub 162 A=0.494 G=0.506
14KJPN JAPANESE Study-wide 28258 A=0.80427 G=0.19573
8.3KJPN JAPANESE Study-wide 16760 A=0.80519 G=0.19481
1000Genomes_30x Global Study-wide 6404 A=0.3801 G=0.6199
1000Genomes_30x African Sub 1786 A=0.0140 G=0.9860
1000Genomes_30x Europe Sub 1266 A=0.3349 G=0.6651
1000Genomes_30x South Asian Sub 1202 A=0.4717 G=0.5283
1000Genomes_30x East Asian Sub 1170 A=0.7726 G=0.2274
1000Genomes_30x American Sub 980 A=0.524 G=0.476
1000Genomes Global Study-wide 5008 A=0.3912 G=0.6088
1000Genomes African Sub 1322 A=0.0166 G=0.9834
1000Genomes East Asian Sub 1008 A=0.7808 G=0.2192
1000Genomes Europe Sub 1006 A=0.3310 G=0.6690
1000Genomes South Asian Sub 978 A=0.469 G=0.531
1000Genomes American Sub 694 A=0.516 G=0.484
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3344 G=0.6656
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3129 G=0.6871
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3217 G=0.6783
KOREAN population from KRGDB KOREAN Study-wide 2924 A=0.8208 G=0.1792
Northern Sweden ACPOP Study-wide 600 A=0.350 G=0.650
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.998 G=0.002
SGDP_PRJ Global Study-wide 386 A=0.225 G=0.775
Qatari Global Study-wide 216 A=0.130 G=0.870
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.806 G=0.194
The Danish reference pan genome Danish Study-wide 40 A=0.42 G=0.57
Siberian Global Study-wide 36 A=0.39 G=0.61
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 2 NC_000002.12:g.9555777A>G
GRCh37.p13 chr 2 NC_000002.11:g.9695906A>G
ADAM17 RefSeqGene (LRG_1203) NG_029873.1:g.5012T>C
Gene: ADAM17, ADAM metallopeptidase domain 17 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADAM17 transcript variant 1 NM_003183.6:c.-172= N/A 5 Prime UTR Variant
ADAM17 transcript variant 2 NM_001382777.1:c.-852= N/A 5 Prime UTR Variant
ADAM17 transcript variant 3 NM_001382778.1:c.-1094= N/A 5 Prime UTR Variant
ADAM17 transcript variant X1 XM_047445610.1:c.-330= N/A 5 Prime UTR Variant
ADAM17 transcript variant X2 XM_047445611.1:c. N/A Genic Upstream Transcript Variant
ADAM17 transcript variant X3 XM_047445612.1:c. N/A Genic Upstream Transcript 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.

Allele: G (allele ID: 1216056 )
ClinVar Accession Disease Names Clinical Significance
RCV001611354.3 not provided Benign
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 2 NC_000002.12:g.9555777= NC_000002.12:g.9555777A>G
GRCh37.p13 chr 2 NC_000002.11:g.9695906= NC_000002.11:g.9695906A>G
ADAM17 RefSeqGene (LRG_1203) NG_029873.1:g.5012= NG_029873.1:g.5012T>C
ADAM17 transcript variant 1 NM_003183.6:c.-172= NM_003183.6:c.-172T>C
ADAM17 transcript NM_003183.5:c.-172= NM_003183.5:c.-172T>C
ADAM17 transcript NM_003183.4:c.-172= NM_003183.4:c.-172T>C
ADAM17 transcript variant 3 NM_001382778.1:c.-1094= NM_001382778.1:c.-1094T>C
ADAM17 transcript variant 2 NM_001382777.1:c.-852= NM_001382777.1:c.-852T>C
ADAM17 transcript variant X1 XM_047445610.1:c.-330= XM_047445610.1:c.-330T>C
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, 18 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss21723851 Apr 05, 2004 (121)
2 WUGSC_SSAHASNP ss23077876 Apr 05, 2004 (121)
3 ABI ss41639658 Mar 14, 2006 (126)
4 HGSV ss81087035 Dec 15, 2007 (130)
5 BCMHGSC_JDW ss91051233 Mar 24, 2008 (129)
6 HUMANGENOME_JCVI ss96374887 Feb 05, 2009 (130)
7 BGI ss103456417 Dec 01, 2009 (131)
8 1000GENOMES ss112261085 Jan 25, 2009 (130)
9 ILLUMINA-UK ss117586583 Feb 14, 2009 (130)
10 ENSEMBL ss133011119 Dec 01, 2009 (131)
11 ENSEMBL ss138387274 Dec 01, 2009 (131)
12 ILLUMINA ss160294947 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss163075830 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss163839263 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss166115120 Jul 04, 2010 (132)
16 BUSHMAN ss200027181 Jul 04, 2010 (132)
17 1000GENOMES ss219061398 Jul 14, 2010 (132)
18 1000GENOMES ss231033812 Jul 14, 2010 (132)
19 1000GENOMES ss238619540 Jul 15, 2010 (132)
20 BL ss252910616 May 09, 2011 (134)
21 PJP ss292324159 May 09, 2011 (134)
22 ILLUMINA ss480396588 Sep 08, 2015 (146)
23 ILLUMINA ss483861713 May 04, 2012 (137)
24 ILLUMINA ss484152851 May 04, 2012 (137)
25 ILLUMINA ss536057306 Sep 08, 2015 (146)
26 TISHKOFF ss555349549 Apr 25, 2013 (138)
27 SSMP ss648926204 Apr 25, 2013 (138)
28 ILLUMINA ss782374442 Sep 08, 2015 (146)
29 EVA-GONL ss976478721 Aug 21, 2014 (142)
30 1000GENOMES ss1295877501 Aug 21, 2014 (142)
31 DDI ss1428475763 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1578735202 Apr 01, 2015 (144)
33 EVA_DECODE ss1585878930 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1602790182 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1645784215 Apr 01, 2015 (144)
36 EVA_MGP ss1710953779 Apr 01, 2015 (144)
37 HAMMER_LAB ss1796253367 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1919709518 Feb 12, 2016 (147)
39 JJLAB ss2020380954 Sep 14, 2016 (149)
40 USC_VALOUEV ss2148423696 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2227451539 Dec 20, 2016 (150)
42 SYSTEMSBIOZJU ss2624706215 Nov 08, 2017 (151)
43 ILLUMINA ss2633570723 Nov 08, 2017 (151)
44 GRF ss2702980695 Nov 08, 2017 (151)
45 GNOMAD ss2769647804 Nov 08, 2017 (151)
46 SWEGEN ss2988964015 Nov 08, 2017 (151)
47 CSHL ss3344069871 Nov 08, 2017 (151)
48 ILLUMINA ss3627989588 Oct 11, 2018 (152)
49 ILLUMINA ss3636436560 Oct 11, 2018 (152)
50 ILLUMINA ss3642075149 Oct 11, 2018 (152)
51 BIOINF_KMB_FNS_UNIBA ss3645534380 Oct 11, 2018 (152)
52 OMUKHERJEE_ADBS ss3646257956 Oct 11, 2018 (152)
53 URBANLAB ss3646963043 Oct 11, 2018 (152)
54 EGCUT_WGS ss3656912974 Jul 12, 2019 (153)
55 EVA_DECODE ss3703234467 Jul 12, 2019 (153)
56 ACPOP ss3728144013 Jul 12, 2019 (153)
57 EVA ss3756343266 Jul 12, 2019 (153)
58 PACBIO ss3783775905 Jul 12, 2019 (153)
59 PACBIO ss3789377231 Jul 12, 2019 (153)
60 PACBIO ss3794249935 Jul 12, 2019 (153)
61 KHV_HUMAN_GENOMES ss3800728253 Jul 12, 2019 (153)
62 EVA ss3826813933 Apr 25, 2020 (154)
63 EVA ss3836811870 Apr 25, 2020 (154)
64 EVA ss3842225688 Apr 25, 2020 (154)
65 SGDP_PRJ ss3851574839 Apr 25, 2020 (154)
66 KRGDB ss3896958255 Apr 25, 2020 (154)
67 FSA-LAB ss3984168195 Apr 25, 2021 (155)
68 FSA-LAB ss3984168196 Apr 25, 2021 (155)
69 EVA ss3986170197 Apr 25, 2021 (155)
70 TOPMED ss4493928321 Apr 25, 2021 (155)
71 TOMMO_GENOMICS ss5149837961 Apr 25, 2021 (155)
72 EVA ss5237168002 Apr 25, 2021 (155)
73 1000G_HIGH_COVERAGE ss5246885071 Oct 13, 2022 (156)
74 EVA ss5326755064 Oct 13, 2022 (156)
75 HUGCELL_USP ss5447200448 Oct 13, 2022 (156)
76 1000G_HIGH_COVERAGE ss5521498779 Oct 13, 2022 (156)
77 EVA ss5624096724 Oct 13, 2022 (156)
78 SANFORD_IMAGENETICS ss5628075725 Oct 13, 2022 (156)
79 TOMMO_GENOMICS ss5678017659 Oct 13, 2022 (156)
80 EVA ss5800092528 Oct 13, 2022 (156)
81 YY_MCH ss5801919658 Oct 13, 2022 (156)
82 EVA ss5819646785 Oct 13, 2022 (156)
83 EVA ss5848507388 Oct 13, 2022 (156)
84 EVA ss5852384993 Oct 13, 2022 (156)
85 EVA ss5928993849 Oct 13, 2022 (156)
86 EVA ss5954266616 Oct 13, 2022 (156)
87 EVA ss5980036449 Oct 13, 2022 (156)
88 1000Genomes NC_000002.11 - 9695906 Oct 11, 2018 (152)
89 1000Genomes_30x NC_000002.12 - 9555777 Oct 13, 2022 (156)
90 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 9695906 Oct 11, 2018 (152)
91 Genetic variation in the Estonian population NC_000002.11 - 9695906 Oct 11, 2018 (152)
92 The Danish reference pan genome NC_000002.11 - 9695906 Apr 25, 2020 (154)
93 gnomAD - Genomes NC_000002.12 - 9555777 Apr 25, 2021 (155)
94 KOREAN population from KRGDB NC_000002.11 - 9695906 Apr 25, 2020 (154)
95 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 9695906 Apr 25, 2020 (154)
96 Northern Sweden NC_000002.11 - 9695906 Jul 12, 2019 (153)
97 Qatari NC_000002.11 - 9695906 Apr 25, 2020 (154)
98 SGDP_PRJ NC_000002.11 - 9695906 Apr 25, 2020 (154)
99 Siberian NC_000002.11 - 9695906 Apr 25, 2020 (154)
100 8.3KJPN NC_000002.11 - 9695906 Apr 25, 2021 (155)
101 14KJPN NC_000002.12 - 9555777 Oct 13, 2022 (156)
102 TopMed NC_000002.12 - 9555777 Apr 25, 2021 (155)
103 UK 10K study - Twins NC_000002.11 - 9695906 Oct 11, 2018 (152)
104 A Vietnamese Genetic Variation Database NC_000002.11 - 9695906 Jul 12, 2019 (153)
105 ALFA NC_000002.12 - 9555777 Apr 25, 2021 (155)
106 ClinVar RCV001611354.3 Oct 13, 2022 (156)
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)
rs59446156 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81087035 NC_000002.9:9646503:A:G NC_000002.12:9555776:A:G (self)
ss91051233, ss112261085, ss117586583, ss163075830, ss163839263, ss166115120, ss200027181, ss252910616, ss292324159, ss484152851, ss1585878930 NC_000002.10:9613356:A:G NC_000002.12:9555776:A:G (self)
6777334, 3755001, 2651222, 4913591, 4135649, 70531, 1428878, 1751448, 3591819, 940050, 7807268, 3755001, 819434, ss219061398, ss231033812, ss238619540, ss480396588, ss483861713, ss536057306, ss555349549, ss648926204, ss782374442, ss976478721, ss1295877501, ss1428475763, ss1578735202, ss1602790182, ss1645784215, ss1710953779, ss1796253367, ss1919709518, ss2020380954, ss2148423696, ss2624706215, ss2633570723, ss2702980695, ss2769647804, ss2988964015, ss3344069871, ss3627989588, ss3636436560, ss3642075149, ss3646257956, ss3656912974, ss3728144013, ss3756343266, ss3783775905, ss3789377231, ss3794249935, ss3826813933, ss3836811870, ss3851574839, ss3896958255, ss3984168195, ss3984168196, ss3986170197, ss5149837961, ss5326755064, ss5624096724, ss5628075725, ss5800092528, ss5819646785, ss5848507388, ss5954266616, ss5980036449 NC_000002.11:9695905:A:G NC_000002.12:9555776:A:G (self)
RCV001611354.3, 9024714, 48253697, 11854763, 297751200, 6643197993, ss2227451539, ss3645534380, ss3646963043, ss3703234467, ss3800728253, ss3842225688, ss4493928321, ss5237168002, ss5246885071, ss5447200448, ss5521498779, ss5678017659, ss5801919658, ss5852384993, ss5928993849 NC_000002.12:9555776:A:G NC_000002.12:9555776:A:G (self)
ss21723851, ss23077876 NT_005334.14:4530040:A:G NC_000002.12:9555776:A:G (self)
ss41639658, ss96374887, ss103456417, ss133011119, ss138387274, ss160294947 NT_005334.16:4577117:A:G NC_000002.12:9555776: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.

4 citations for rs12692386
PMID Title Author Year Journal
20627730 The relationship between ADAM17 promoter polymorphisms and sporadic Alzheimer's disease in a Northern Chinese Han population. Wang M et al. 2010 Journal of clinical neuroscience
24727681 Association between ADAM17 promoter polymorphisms and ischemic stroke in a Chinese population. Li Y et al. 2014 Journal of atherosclerosis and thrombosis
32214841 ADAM17 Genetic Variants and the Response of TNF-α Inhibitor in Rheumatoid Arthritis Patients. Kim HJ et al. 2020 Pharmacogenomics and personalized medicine
34862128 The -172 A-to-G variation in ADAM17 gene promoter region affects EGR1/ADAM17 pathway and confers susceptibility to septic mortality with sepsis-3.0 criteria. He J et al. 2022 International immunopharmacology
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