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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.

rs1803545

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:21772876 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000812 (215/264690, TOPMED)
A=0.001365 (343/251310, GnomAD_exome)
A=0.000457 (64/140192, GnomAD) (+ 13 more)
A=0.001335 (162/121372, ExAC)
A=0.00028 (12/42944, ALFA)
A=0.03351 (947/28258, 14KJPN)
A=0.03407 (571/16760, 8.3KJPN)
A=0.00008 (1/13006, GO-ESP)
A=0.0033 (21/6404, 1000G_30x)
A=0.0038 (19/5008, 1000G)
A=0.0181 (53/2930, KOREAN)
A=0.0175 (32/1832, Korea1K)
A=0.0118 (12/1016, HapMap)
A=0.010 (6/614, Vietnamese)
G=0.5 (2/4, SGDP_PRJ)
A=0.5 (2/4, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MAPK1 : Missense Variant
Publications
1 citation
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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 59306 G=0.99973 A=0.00027 0.99946 0.0 0.00054 0
European Sub 39156 G=0.99995 A=0.00005 0.999898 0.0 0.000102 0
African Sub 10820 G=0.99954 A=0.00046 0.999076 0.0 0.000924 0
African Others Sub 372 G=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 10448 G=0.99952 A=0.00048 0.999043 0.0 0.000957 0
Asian Sub 498 G=0.984 A=0.016 0.967871 0.0 0.032129 0
East Asian Sub 400 G=0.980 A=0.020 0.96 0.0 0.04 0
Other Asian Sub 98 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 522 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 842 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 162 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Other Sub 7306 G=0.9999 A=0.0001 0.999726 0.0 0.000274 0


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=0.999188 A=0.000812
gnomAD - Exomes Global Study-wide 251310 G=0.998635 A=0.001365
gnomAD - Exomes European Sub 135258 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49008 G=0.99321 A=0.00679
gnomAD - Exomes American Sub 34580 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 16256 G=0.99969 A=0.00031
gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6132 G=0.9993 A=0.0007
gnomAD - Genomes Global Study-wide 140192 G=0.999543 A=0.000457
gnomAD - Genomes European Sub 75928 G=0.99997 A=0.00003
gnomAD - Genomes African Sub 42030 G=0.99974 A=0.00026
gnomAD - Genomes American Sub 13626 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=0.9840 A=0.0160
gnomAD - Genomes Other Sub 2152 G=0.9995 A=0.0005
ExAC Global Study-wide 121372 G=0.998665 A=0.001335
ExAC Europe Sub 73332 G=1.00000 A=0.00000
ExAC Asian Sub 25154 G=0.99372 A=0.00628
ExAC American Sub 11576 G=0.99991 A=0.00009
ExAC African Sub 10402 G=0.99981 A=0.00019
ExAC Other Sub 908 G=0.999 A=0.001
Allele Frequency Aggregator Total Global 42944 G=0.99972 A=0.00028
Allele Frequency Aggregator European Sub 29066 G=0.99997 A=0.00003
Allele Frequency Aggregator African Sub 5982 G=0.9997 A=0.0003
Allele Frequency Aggregator Other Sub 5872 G=0.9998 A=0.0002
Allele Frequency Aggregator Latin American 2 Sub 842 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 522 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 498 G=0.984 A=0.016
Allele Frequency Aggregator South Asian Sub 162 G=1.000 A=0.000
14KJPN JAPANESE Study-wide 28258 G=0.96649 A=0.03351
8.3KJPN JAPANESE Study-wide 16760 G=0.96593 A=0.03407
GO Exome Sequencing Project Global Study-wide 13006 G=0.99992 A=0.00008
GO Exome Sequencing Project European American Sub 8600 G=0.9999 A=0.0001
GO Exome Sequencing Project African American Sub 4406 G=1.0000 A=0.0000
1000Genomes_30x Global Study-wide 6404 G=0.9967 A=0.0033
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=0.9975 A=0.0025
1000Genomes_30x East Asian Sub 1170 G=0.9846 A=0.0154
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9962 A=0.0038
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9841 A=0.0159
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=0.997 A=0.003
1000Genomes American Sub 694 G=1.000 A=0.000
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.9819 A=0.0181
Korean Genome Project KOREAN Study-wide 1832 G=0.9825 A=0.0175
HapMap Global Study-wide 1016 G=0.9882 A=0.0118
HapMap American Sub 466 G=0.989 A=0.011
HapMap African Sub 298 G=0.997 A=0.003
HapMap Asian Sub 252 G=0.976 A=0.024
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.990 A=0.010
SGDP_PRJ Global Study-wide 4 G=0.5 A=0.5
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 22 NC_000022.11:g.21772876G>A
GRCh38.p14 chr 22 NC_000022.11:g.21772876G>C
GRCh37.p13 chr 22 NC_000022.10:g.22127165G>A
GRCh37.p13 chr 22 NC_000022.10:g.22127165G>C
MAPK1 RefSeqGene (LRG_786) NG_023054.2:g.99805C>T
MAPK1 RefSeqGene (LRG_786) NG_023054.2:g.99805C>G
Gene: MAPK1, mitogen-activated protein kinase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MAPK1 transcript variant 2 NM_138957.3:c.963C>T D [GAC] > D [GAT] Coding Sequence Variant
mitogen-activated protein kinase 1 NP_620407.1:p.Asp321= D (Asp) > D (Asp) Synonymous Variant
MAPK1 transcript variant 2 NM_138957.3:c.963C>G D [GAC] > E [GAG] Coding Sequence Variant
mitogen-activated protein kinase 1 NP_620407.1:p.Asp321Glu D (Asp) > E (Glu) Missense Variant
MAPK1 transcript variant 1 NM_002745.5:c.963C>T D [GAC] > D [GAT] Coding Sequence Variant
mitogen-activated protein kinase 1 NP_002736.3:p.Asp321= D (Asp) > D (Asp) Synonymous Variant
MAPK1 transcript variant 1 NM_002745.5:c.963C>G D [GAC] > E [GAG] Coding Sequence Variant
mitogen-activated protein kinase 1 NP_002736.3:p.Asp321Glu D (Asp) > E (Glu) Missense 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: A (allele ID: 742774 )
ClinVar Accession Disease Names Clinical Significance
RCV000908688.4 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 G= A C
GRCh38.p14 chr 22 NC_000022.11:g.21772876= NC_000022.11:g.21772876G>A NC_000022.11:g.21772876G>C
GRCh37.p13 chr 22 NC_000022.10:g.22127165= NC_000022.10:g.22127165G>A NC_000022.10:g.22127165G>C
MAPK1 RefSeqGene (LRG_786) NG_023054.2:g.99805= NG_023054.2:g.99805C>T NG_023054.2:g.99805C>G
MAPK1 transcript variant 1 NM_002745.5:c.963= NM_002745.5:c.963C>T NM_002745.5:c.963C>G
MAPK1 transcript variant 1 NM_002745.4:c.963= NM_002745.4:c.963C>T NM_002745.4:c.963C>G
MAPK1 transcript variant 2 NM_138957.3:c.963= NM_138957.3:c.963C>T NM_138957.3:c.963C>G
MAPK1 transcript variant 2 NM_138957.2:c.963= NM_138957.2:c.963C>T NM_138957.2:c.963C>G
mitogen-activated protein kinase 1 NP_002736.3:p.Asp321= NP_002736.3:p.Asp321= NP_002736.3:p.Asp321Glu
mitogen-activated protein kinase 1 NP_620407.1:p.Asp321= NP_620407.1:p.Asp321= NP_620407.1:p.Asp321Glu
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#.

46 SubSNP, 15 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3212300 Sep 28, 2001 (102)
2 KRIBB_YJKIM ss65826879 Dec 01, 2006 (127)
3 ILLUMINA ss75094210 Dec 07, 2007 (129)
4 KRIBB_YJKIM ss80751273 Dec 15, 2007 (130)
5 KRIBB_YJKIM ss119404081 Dec 01, 2009 (131)
6 ILLUMINA ss160463166 Dec 01, 2009 (131)
7 1000GENOMES ss341095994 May 09, 2011 (134)
8 ILLUMINA ss481068456 Sep 08, 2015 (146)
9 1000GENOMES ss491188987 May 04, 2012 (137)
10 ILLUMINA ss533931340 Sep 08, 2015 (146)
11 NHLBI-ESP ss713612350 Apr 25, 2013 (138)
12 1000GENOMES ss1366731106 Aug 21, 2014 (142)
13 EVA_EXAC ss1694247580 Apr 01, 2015 (144)
14 EVA_SVP ss1713732138 Apr 01, 2015 (144)
15 HUMAN_LONGEVITY ss2246533584 Dec 20, 2016 (150)
16 GNOMAD ss2744992299 Nov 08, 2017 (151)
17 GNOMAD ss2750510046 Nov 08, 2017 (151)
18 GNOMAD ss2973165921 Nov 08, 2017 (151)
19 AFFY ss2985851069 Nov 08, 2017 (151)
20 ILLUMINA ss3022173456 Nov 08, 2017 (151)
21 ILLUMINA ss3628508599 Oct 12, 2018 (152)
22 ILLUMINA ss3636557304 Oct 12, 2018 (152)
23 ILLUMINA ss3643335704 Oct 12, 2018 (152)
24 ILLUMINA ss3652635204 Oct 12, 2018 (152)
25 ILLUMINA ss3725958630 Jul 13, 2019 (153)
26 EVA ss3759245260 Jul 13, 2019 (153)
27 KHV_HUMAN_GENOMES ss3822412922 Jul 13, 2019 (153)
28 EVA ss3825427386 Apr 27, 2020 (154)
29 SGDP_PRJ ss3890303851 Apr 27, 2020 (154)
30 KRGDB ss3940694078 Apr 27, 2020 (154)
31 KOGIC ss3983422027 Apr 27, 2020 (154)
32 EVA ss3986086943 Apr 27, 2021 (155)
33 TOPMED ss5105504640 Apr 27, 2021 (155)
34 TOMMO_GENOMICS ss5232122821 Apr 27, 2021 (155)
35 EVA ss5236989135 Apr 27, 2021 (155)
36 1000G_HIGH_COVERAGE ss5310705448 Oct 16, 2022 (156)
37 TRAN_CS_UWATERLOO ss5314457291 Oct 16, 2022 (156)
38 EVA ss5440611034 Oct 16, 2022 (156)
39 HUGCELL_USP ss5502602489 Oct 16, 2022 (156)
40 1000G_HIGH_COVERAGE ss5618084210 Oct 16, 2022 (156)
41 SANFORD_IMAGENETICS ss5664269814 Oct 16, 2022 (156)
42 TOMMO_GENOMICS ss5793086262 Oct 16, 2022 (156)
43 YY_MCH ss5818609019 Oct 16, 2022 (156)
44 EVA ss5881390278 Oct 16, 2022 (156)
45 EVA ss5936449714 Oct 16, 2022 (156)
46 EVA ss5959129672 Oct 16, 2022 (156)
47 1000Genomes NC_000022.10 - 22127165 Oct 12, 2018 (152)
48 1000Genomes_30x NC_000022.11 - 21772876 Oct 16, 2022 (156)
49 ExAC NC_000022.10 - 22127165 Oct 12, 2018 (152)
50 gnomAD - Genomes NC_000022.11 - 21772876 Apr 27, 2021 (155)
51 gnomAD - Exomes NC_000022.10 - 22127165 Jul 13, 2019 (153)
52 GO Exome Sequencing Project NC_000022.10 - 22127165 Oct 12, 2018 (152)
53 HapMap NC_000022.11 - 21772876 Apr 27, 2020 (154)
54 KOREAN population from KRGDB NC_000022.10 - 22127165 Apr 27, 2020 (154)
55 Korean Genome Project NC_000022.11 - 21772876 Apr 27, 2020 (154)
56 SGDP_PRJ NC_000022.10 - 22127165 Apr 27, 2020 (154)
57 8.3KJPN NC_000022.10 - 22127165 Apr 27, 2021 (155)
58 14KJPN NC_000022.11 - 21772876 Oct 16, 2022 (156)
59 TopMed NC_000022.11 - 21772876 Apr 27, 2021 (155)
60 A Vietnamese Genetic Variation Database NC_000022.10 - 22127165 Jul 13, 2019 (153)
61 ALFA NC_000022.11 - 21772876 Apr 27, 2021 (155)
62 ClinVar RCV000908688.4 Oct 16, 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)
rs2276009 Jan 04, 2002 (102)
rs59810675 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1713732138, ss3643335704 NC_000022.9:20457164:G:A NC_000022.11:21772875:G:A (self)
80267294, 5821169, 14320237, 1884235, 47871472, 42320831, 90092128, 9797430, ss341095994, ss481068456, ss491188987, ss533931340, ss713612350, ss1366731106, ss1694247580, ss2744992299, ss2750510046, ss2973165921, ss2985851069, ss3022173456, ss3628508599, ss3636557304, ss3652635204, ss3759245260, ss3825427386, ss3890303851, ss3940694078, ss3986086943, ss5232122821, ss5440611034, ss5664269814, ss5936449714, ss5959129672 NC_000022.10:22127164:G:A NC_000022.11:21772875:G:A (self)
RCV000908688.4, 105610145, 566899713, 2229794, 39800028, 126923366, 380613587, 9281089114, ss2246533584, ss3725958630, ss3822412922, ss3983422027, ss5105504640, ss5236989135, ss5310705448, ss5314457291, ss5502602489, ss5618084210, ss5793086262, ss5818609019, ss5881390278 NC_000022.11:21772875:G:A NC_000022.11:21772875:G:A (self)
ss3212300, ss65826879, ss75094210, ss80751273, ss119404081, ss160463166 NT_011520.12:1517733:G:A NC_000022.11:21772875:G:A (self)
ss5936449714 NC_000022.10:22127164:G:C NC_000022.11:21772875:G:C
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 rs1803545
PMID Title Author Year Journal
30008631 Radon Exposure-induced Genetic Variations in Lung Cancers among Never Smokers. Choi JR et al. 2018 Journal of Korean medical science
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.post825+45319f0