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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.

rs980183

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:59084401 (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
G=0.295066 (78101/264690, TOPMED)
G=0.369071 (53505/144972, ALFA)
G=0.314142 (43990/140032, GnomAD) (+ 18 more)
G=0.15228 (4303/28258, 14KJPN)
G=0.15644 (2622/16760, 8.3KJPN)
G=0.2228 (1427/6404, 1000G_30x)
G=0.2236 (1120/5008, 1000G)
G=0.3879 (1738/4480, Estonian)
G=0.3879 (1495/3854, ALSPAC)
G=0.4005 (1485/3708, TWINSUK)
G=0.1792 (525/2930, KOREAN)
G=0.1665 (305/1832, Korea1K)
G=0.2143 (279/1302, HapMap)
G=0.404 (403/998, GoNL)
G=0.313 (188/600, NorthernSweden)
G=0.174 (86/494, SGDP_PRJ)
G=0.352 (76/216, Qatari)
G=0.159 (34/214, Vietnamese)
G=0.28 (14/50, Siberian)
G=0.46 (22/48, Ancient Sardinia)
G=0.35 (14/40, GENOME_DK)
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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 144972 G=0.369071 A=0.630929 0.139903 0.40176 0.458337 10
European Sub 122798 G=0.392278 A=0.607722 0.153651 0.369094 0.477255 0
African Sub 8168 G=0.1954 A=0.8046 0.038688 0.647894 0.313418 0
African Others Sub 292 G=0.120 A=0.880 0.020548 0.780822 0.19863 0
African American Sub 7876 G=0.1982 A=0.8018 0.03936 0.642966 0.317674 0
Asian Sub 622 G=0.137 A=0.863 0.016077 0.742765 0.241158 0
East Asian Sub 490 G=0.153 A=0.847 0.020408 0.714286 0.265306 0
Other Asian Sub 132 G=0.076 A=0.924 0.0 0.848485 0.151515 0
Latin American 1 Sub 738 G=0.287 A=0.713 0.097561 0.523035 0.379404 1
Latin American 2 Sub 6278 G=0.2060 A=0.7940 0.041733 0.629818 0.328449 0
South Asian Sub 184 G=0.190 A=0.810 0.043478 0.663043 0.293478 0
Other Sub 6184 G=0.3417 A=0.6583 0.120634 0.437257 0.442109 1


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=0.295066 A=0.704934
Allele Frequency Aggregator Total Global 144972 G=0.369071 A=0.630929
Allele Frequency Aggregator European Sub 122798 G=0.392278 A=0.607722
Allele Frequency Aggregator African Sub 8168 G=0.1954 A=0.8046
Allele Frequency Aggregator Latin American 2 Sub 6278 G=0.2060 A=0.7940
Allele Frequency Aggregator Other Sub 6184 G=0.3417 A=0.6583
Allele Frequency Aggregator Latin American 1 Sub 738 G=0.287 A=0.713
Allele Frequency Aggregator Asian Sub 622 G=0.137 A=0.863
Allele Frequency Aggregator South Asian Sub 184 G=0.190 A=0.810
gnomAD - Genomes Global Study-wide 140032 G=0.314142 A=0.685858
gnomAD - Genomes European Sub 75850 G=0.39566 A=0.60434
gnomAD - Genomes African Sub 41956 G=0.19192 A=0.80808
gnomAD - Genomes American Sub 13620 G=0.25984 A=0.74016
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.3788 A=0.6212
gnomAD - Genomes East Asian Sub 3134 G=0.1455 A=0.8545
gnomAD - Genomes Other Sub 2148 G=0.3133 A=0.6867
14KJPN JAPANESE Study-wide 28258 G=0.15228 A=0.84772
8.3KJPN JAPANESE Study-wide 16760 G=0.15644 A=0.84356
1000Genomes_30x Global Study-wide 6404 G=0.2228 A=0.7772
1000Genomes_30x African Sub 1786 G=0.1691 A=0.8309
1000Genomes_30x Europe Sub 1266 G=0.3776 A=0.6224
1000Genomes_30x South Asian Sub 1202 G=0.1897 A=0.8103
1000Genomes_30x East Asian Sub 1170 G=0.1462 A=0.8538
1000Genomes_30x American Sub 980 G=0.253 A=0.747
1000Genomes Global Study-wide 5008 G=0.2236 A=0.7764
1000Genomes African Sub 1322 G=0.1664 A=0.8336
1000Genomes East Asian Sub 1008 G=0.1508 A=0.8492
1000Genomes Europe Sub 1006 G=0.3847 A=0.6153
1000Genomes South Asian Sub 978 G=0.190 A=0.810
1000Genomes American Sub 694 G=0.252 A=0.748
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3879 A=0.6121
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3879 A=0.6121
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4005 A=0.5995
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1792 A=0.8208, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.1665 A=0.8335
HapMap Global Study-wide 1302 G=0.2143 A=0.7857
HapMap American Sub 482 G=0.255 A=0.745
HapMap African Sub 396 G=0.141 A=0.859
HapMap Asian Sub 250 G=0.156 A=0.844
HapMap Europe Sub 174 G=0.351 A=0.649
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.404 A=0.596
Northern Sweden ACPOP Study-wide 600 G=0.313 A=0.687
SGDP_PRJ Global Study-wide 494 G=0.174 A=0.826
Qatari Global Study-wide 216 G=0.352 A=0.648
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.159 A=0.841
Siberian Global Study-wide 50 G=0.28 A=0.72
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 48 G=0.46 A=0.54
The Danish reference pan genome Danish Study-wide 40 G=0.35 A=0.65
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.59084401G>A
GRCh38.p14 chr 2 NC_000002.12:g.59084401G>C
GRCh37.p13 chr 2 NC_000002.11:g.59311536G>A
GRCh37.p13 chr 2 NC_000002.11:g.59311536G>C
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 C
GRCh38.p14 chr 2 NC_000002.12:g.59084401= NC_000002.12:g.59084401G>A NC_000002.12:g.59084401G>C
GRCh37.p13 chr 2 NC_000002.11:g.59311536= NC_000002.11:g.59311536G>A NC_000002.11:g.59311536G>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#.

109 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1433192 Oct 05, 2000 (86)
2 WI_SSAHASNP ss6431985 Feb 20, 2003 (111)
3 SSAHASNP ss21651892 Apr 05, 2004 (121)
4 PERLEGEN ss24271778 Sep 20, 2004 (123)
5 ABI ss41641648 Mar 13, 2006 (126)
6 AFFY ss65945375 Dec 01, 2006 (127)
7 PERLEGEN ss68816089 May 17, 2007 (127)
8 AFFY ss76713791 Dec 06, 2007 (129)
9 HGSV ss83192352 Dec 14, 2007 (130)
10 HGSV ss85481238 Dec 14, 2007 (130)
11 BCMHGSC_JDW ss91179334 Mar 24, 2008 (129)
12 HUMANGENOME_JCVI ss97041855 Feb 04, 2009 (130)
13 KRIBB_YJKIM ss104833254 Feb 04, 2009 (130)
14 BGI ss106092943 Feb 04, 2009 (130)
15 1000GENOMES ss109559301 Jan 24, 2009 (130)
16 1000GENOMES ss110343200 Jan 24, 2009 (130)
17 ENSEMBL ss135842032 Dec 01, 2009 (131)
18 ENSEMBL ss138452377 Dec 01, 2009 (131)
19 GMI ss157118574 Dec 01, 2009 (131)
20 ILLUMINA ss161012355 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss163493912 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss164483577 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss166657972 Jul 04, 2010 (132)
24 BUSHMAN ss200507477 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss205885747 Jul 04, 2010 (132)
26 1000GENOMES ss219276425 Jul 14, 2010 (132)
27 1000GENOMES ss231190095 Jul 14, 2010 (132)
28 1000GENOMES ss238739908 Jul 15, 2010 (132)
29 GMI ss276489795 May 04, 2012 (137)
30 GMI ss284354950 Apr 25, 2013 (138)
31 PJP ss292278118 May 09, 2011 (134)
32 ILLUMINA ss481977810 May 04, 2012 (137)
33 ILLUMINA ss482011481 May 04, 2012 (137)
34 ILLUMINA ss482965128 Sep 08, 2015 (146)
35 ILLUMINA ss485782391 May 04, 2012 (137)
36 ILLUMINA ss537627694 Sep 08, 2015 (146)
37 TISHKOFF ss555599284 Apr 25, 2013 (138)
38 SSMP ss649186381 Apr 25, 2013 (138)
39 ILLUMINA ss779018674 Aug 21, 2014 (142)
40 ILLUMINA ss783337066 Aug 21, 2014 (142)
41 ILLUMINA ss784288575 Aug 21, 2014 (142)
42 ILLUMINA ss832598887 Apr 01, 2015 (144)
43 ILLUMINA ss834481255 Aug 21, 2014 (142)
44 EVA-GONL ss976887440 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1069158615 Aug 21, 2014 (142)
46 1000GENOMES ss1297436077 Aug 21, 2014 (142)
47 DDI ss1428593944 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1578901845 Apr 01, 2015 (144)
49 EVA_DECODE ss1586300337 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1603623228 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1646617261 Apr 01, 2015 (144)
52 ILLUMINA ss1752363531 Sep 08, 2015 (146)
53 HAMMER_LAB ss1796820983 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1920119961 Feb 12, 2016 (147)
55 GENOMED ss1968783210 Jul 19, 2016 (147)
56 JJLAB ss2020593958 Sep 14, 2016 (149)
57 USC_VALOUEV ss2148637769 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2230709870 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2624807682 Nov 08, 2017 (151)
60 ILLUMINA ss2633621187 Nov 08, 2017 (151)
61 GRF ss2703207716 Nov 08, 2017 (151)
62 GNOMAD ss2774031786 Nov 08, 2017 (151)
63 SWEGEN ss2989581769 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3024063962 Nov 08, 2017 (151)
65 CSHL ss3344252406 Nov 08, 2017 (151)
66 ILLUMINA ss3628074676 Oct 11, 2018 (152)
67 ILLUMINA ss3631587612 Oct 11, 2018 (152)
68 ILLUMINA ss3633202151 Oct 11, 2018 (152)
69 ILLUMINA ss3633913897 Oct 11, 2018 (152)
70 ILLUMINA ss3634768615 Oct 11, 2018 (152)
71 ILLUMINA ss3635600121 Oct 11, 2018 (152)
72 ILLUMINA ss3636454995 Oct 11, 2018 (152)
73 ILLUMINA ss3637351994 Oct 11, 2018 (152)
74 ILLUMINA ss3640475917 Oct 11, 2018 (152)
75 URBANLAB ss3647043262 Oct 11, 2018 (152)
76 EGCUT_WGS ss3657556428 Jul 13, 2019 (153)
77 EVA_DECODE ss3703985068 Jul 13, 2019 (153)
78 ACPOP ss3728475690 Jul 13, 2019 (153)
79 ILLUMINA ss3745068524 Jul 13, 2019 (153)
80 EVA ss3756819949 Jul 13, 2019 (153)
81 ILLUMINA ss3772565341 Jul 13, 2019 (153)
82 PACBIO ss3783874649 Jul 13, 2019 (153)
83 PACBIO ss3789460288 Jul 13, 2019 (153)
84 PACBIO ss3794333210 Jul 13, 2019 (153)
85 KHV_HUMAN_GENOMES ss3801191958 Jul 13, 2019 (153)
86 EVA ss3827006312 Apr 25, 2020 (154)
87 EVA ss3836913202 Apr 25, 2020 (154)
88 EVA ss3842328928 Apr 25, 2020 (154)
89 SGDP_PRJ ss3852369407 Apr 25, 2020 (154)
90 KRGDB ss3897845340 Apr 25, 2020 (154)
91 KOGIC ss3947842320 Apr 25, 2020 (154)
92 EVA ss3984896523 Apr 26, 2021 (155)
93 EVA ss4016998563 Apr 26, 2021 (155)
94 TOPMED ss4507439612 Apr 26, 2021 (155)
95 TOMMO_GENOMICS ss5151575797 Apr 26, 2021 (155)
96 1000G_HIGH_COVERAGE ss5248225652 Oct 12, 2022 (156)
97 EVA ss5314739270 Oct 12, 2022 (156)
98 EVA ss5329238206 Oct 12, 2022 (156)
99 HUGCELL_USP ss5448414634 Oct 12, 2022 (156)
100 EVA ss5506427503 Oct 12, 2022 (156)
101 1000G_HIGH_COVERAGE ss5523536406 Oct 12, 2022 (156)
102 SANFORD_IMAGENETICS ss5628836372 Oct 12, 2022 (156)
103 TOMMO_GENOMICS ss5680258531 Oct 12, 2022 (156)
104 EVA ss5799533529 Oct 12, 2022 (156)
105 YY_MCH ss5802245682 Oct 12, 2022 (156)
106 EVA ss5820161955 Oct 12, 2022 (156)
107 EVA ss5852541793 Oct 12, 2022 (156)
108 EVA ss5930558198 Oct 12, 2022 (156)
109 EVA ss5955072983 Oct 12, 2022 (156)
110 1000Genomes NC_000002.11 - 59311536 Oct 11, 2018 (152)
111 1000Genomes_30x NC_000002.12 - 59084401 Oct 12, 2022 (156)
112 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 59311536 Oct 11, 2018 (152)
113 Genetic variation in the Estonian population NC_000002.11 - 59311536 Oct 11, 2018 (152)
114 The Danish reference pan genome NC_000002.11 - 59311536 Apr 25, 2020 (154)
115 gnomAD - Genomes NC_000002.12 - 59084401 Apr 26, 2021 (155)
116 Genome of the Netherlands Release 5 NC_000002.11 - 59311536 Apr 25, 2020 (154)
117 HapMap NC_000002.12 - 59084401 Apr 25, 2020 (154)
118 KOREAN population from KRGDB NC_000002.11 - 59311536 Apr 25, 2020 (154)
119 Korean Genome Project NC_000002.12 - 59084401 Apr 25, 2020 (154)
120 Northern Sweden NC_000002.11 - 59311536 Jul 13, 2019 (153)
121 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000002.11 - 59311536 Apr 26, 2021 (155)
122 Qatari NC_000002.11 - 59311536 Apr 25, 2020 (154)
123 SGDP_PRJ NC_000002.11 - 59311536 Apr 25, 2020 (154)
124 Siberian NC_000002.11 - 59311536 Apr 25, 2020 (154)
125 8.3KJPN NC_000002.11 - 59311536 Apr 26, 2021 (155)
126 14KJPN NC_000002.12 - 59084401 Oct 12, 2022 (156)
127 TopMed NC_000002.12 - 59084401 Apr 26, 2021 (155)
128 UK 10K study - Twins NC_000002.11 - 59311536 Oct 11, 2018 (152)
129 A Vietnamese Genetic Variation Database NC_000002.11 - 59311536 Jul 13, 2019 (153)
130 ALFA NC_000002.12 - 59084401 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)
rs17564686 Oct 07, 2004 (123)
rs57329771 May 23, 2008 (130)
rs386624962 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83192352, ss85481238 NC_000002.9:59223186:G:A NC_000002.12:59084400:G:A (self)
ss76713791, ss91179334, ss109559301, ss110343200, ss163493912, ss164483577, ss166657972, ss200507477, ss205885747, ss276489795, ss284354950, ss292278118, ss481977810, ss1586300337 NC_000002.10:59165039:G:A NC_000002.12:59084400:G:A (self)
8386533, 4662507, 3294676, 5073264, 2050228, 5022734, 1760555, 122450, 2161891, 4386387, 1154123, 9545104, 4662507, 1013980, ss219276425, ss231190095, ss238739908, ss482011481, ss482965128, ss485782391, ss537627694, ss555599284, ss649186381, ss779018674, ss783337066, ss784288575, ss832598887, ss834481255, ss976887440, ss1069158615, ss1297436077, ss1428593944, ss1578901845, ss1603623228, ss1646617261, ss1752363531, ss1796820983, ss1920119961, ss1968783210, ss2020593958, ss2148637769, ss2624807682, ss2633621187, ss2703207716, ss2774031786, ss2989581769, ss3344252406, ss3628074676, ss3631587612, ss3633202151, ss3633913897, ss3634768615, ss3635600121, ss3636454995, ss3637351994, ss3640475917, ss3657556428, ss3728475690, ss3745068524, ss3756819949, ss3772565341, ss3783874649, ss3789460288, ss3794333210, ss3827006312, ss3836913202, ss3852369407, ss3897845340, ss3984896523, ss4016998563, ss5151575797, ss5314739270, ss5329238206, ss5506427503, ss5628836372, ss5799533529, ss5820161955, ss5955072983 NC_000002.11:59311535:G:A NC_000002.12:59084400:G:A (self)
11062341, 59529578, 1809522, 4220321, 14095635, 311262491, 4720309480, ss2230709870, ss3024063962, ss3647043262, ss3703985068, ss3801191958, ss3842328928, ss3947842320, ss4507439612, ss5248225652, ss5448414634, ss5523536406, ss5680258531, ss5802245682, ss5852541793, ss5930558198 NC_000002.12:59084400:G:A NC_000002.12:59084400:G:A (self)
ss21651892 NT_022184.13:38127467:G:A NC_000002.12:59084400:G:A (self)
ss1433192, ss6431985, ss24271778, ss41641648, ss65945375, ss68816089, ss97041855, ss104833254, ss106092943, ss135842032, ss138452377, ss157118574, ss161012355 NT_022184.15:38133422:G:A NC_000002.12:59084400:G:A (self)
5022734, ss3897845340 NC_000002.11:59311535:G:C NC_000002.12:59084400:G:C (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 rs980183

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.post820+afb47a3d