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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.

rs6037887

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:4594704 (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=0.068507 (18133/264690, TOPMED)
A=0.036802 (5213/141650, ALFA)
A=0.069035 (9679/140204, GnomAD) (+ 16 more)
A=0.00004 (1/28258, 14KJPN)
A=0.00006 (1/16760, 8.3KJPN)
A=0.0684 (438/6404, 1000G_30x)
A=0.0645 (323/5008, 1000G)
A=0.0364 (163/4480, Estonian)
A=0.0000 (0/2930, KOREAN)
A=0.0321 (67/2084, HGDP_Stanford)
A=0.0000 (0/1832, Korea1K)
A=0.0915 (157/1716, HapMap)
A=0.023 (23/998, GoNL)
A=0.020 (12/600, NorthernSweden)
A=0.027 (15/550, SGDP_PRJ)
A=0.032 (7/216, Qatari)
A=0.00 (0/56, Siberian)
A=0.05 (2/40, GENOME_DK)
A=0.06 (2/32, Ancient Sardinia)
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 141650 A=0.036802 G=0.963198, T=0.000000
European Sub 125532 A=0.030749 G=0.969251, T=0.000000
African Sub 6172 A=0.1617 G=0.8383, T=0.0000
African Others Sub 220 A=0.214 G=0.786, T=0.000
African American Sub 5952 A=0.1598 G=0.8402, T=0.0000
Asian Sub 630 A=0.000 G=1.000, T=0.000
East Asian Sub 498 A=0.000 G=1.000, T=0.000
Other Asian Sub 132 A=0.000 G=1.000, T=0.000
Latin American 1 Sub 692 A=0.068 G=0.932, T=0.000
Latin American 2 Sub 2264 A=0.0203 G=0.9797, T=0.0000
South Asian Sub 184 A=0.033 G=0.967, T=0.000
Other Sub 6176 A=0.0415 G=0.9585, 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=0.068507 G=0.931493
Allele Frequency Aggregator Total Global 141650 A=0.036802 G=0.963198, T=0.000000
Allele Frequency Aggregator European Sub 125532 A=0.030749 G=0.969251, T=0.000000
Allele Frequency Aggregator Other Sub 6176 A=0.0415 G=0.9585, T=0.0000
Allele Frequency Aggregator African Sub 6172 A=0.1617 G=0.8383, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2264 A=0.0203 G=0.9797, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 692 A=0.068 G=0.932, T=0.000
Allele Frequency Aggregator Asian Sub 630 A=0.000 G=1.000, T=0.000
Allele Frequency Aggregator South Asian Sub 184 A=0.033 G=0.967, T=0.000
gnomAD - Genomes Global Study-wide 140204 A=0.069035 G=0.930965
gnomAD - Genomes European Sub 75952 A=0.02914 G=0.97086
gnomAD - Genomes African Sub 41986 A=0.15920 G=0.84080
gnomAD - Genomes American Sub 13654 A=0.03274 G=0.96726
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.0629 G=0.9371
gnomAD - Genomes East Asian Sub 3134 A=0.0006 G=0.9994
gnomAD - Genomes Other Sub 2154 A=0.0576 G=0.9424
14KJPN JAPANESE Study-wide 28258 A=0.00004 G=0.99996
8.3KJPN JAPANESE Study-wide 16760 A=0.00006 G=0.99994
1000Genomes_30x Global Study-wide 6404 A=0.0684 G=0.9316
1000Genomes_30x African Sub 1786 A=0.1920 G=0.8080
1000Genomes_30x Europe Sub 1266 A=0.0276 G=0.9724
1000Genomes_30x South Asian Sub 1202 A=0.0225 G=0.9775
1000Genomes_30x East Asian Sub 1170 A=0.0000 G=1.0000
1000Genomes_30x American Sub 980 A=0.034 G=0.966
1000Genomes Global Study-wide 5008 A=0.0645 G=0.9355
1000Genomes African Sub 1322 A=0.1891 G=0.8109
1000Genomes East Asian Sub 1008 A=0.0000 G=1.0000
1000Genomes Europe Sub 1006 A=0.0278 G=0.9722
1000Genomes South Asian Sub 978 A=0.021 G=0.979
1000Genomes American Sub 694 A=0.035 G=0.965
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.0364 G=0.9636
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0000 G=1.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.0321 G=0.9679
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.000 G=1.000
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.046 G=0.954
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.029 G=0.971
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.022 G=0.978
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.124 G=0.876
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.005 G=0.995
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.00 G=1.00
Korean Genome Project KOREAN Study-wide 1832 A=0.0000 G=1.0000
HapMap Global Study-wide 1716 A=0.0915 G=0.9085
HapMap American Sub 770 A=0.048 G=0.952
HapMap African Sub 682 A=0.169 G=0.831
HapMap Europe Sub 176 A=0.028 G=0.972
HapMap Asian Sub 88 A=0.00 G=1.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.023 G=0.977
Northern Sweden ACPOP Study-wide 600 A=0.020 G=0.980
SGDP_PRJ Global Study-wide 550 A=0.027 G=0.973
Qatari Global Study-wide 216 A=0.032 G=0.968
Siberian Global Study-wide 56 A=0.00 G=1.00
The Danish reference pan genome Danish Study-wide 40 A=0.05 G=0.95
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 32 A=0.06 G=0.94
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 20 NC_000020.11:g.4594704A>G
GRCh38.p14 chr 20 NC_000020.11:g.4594704A>T
GRCh37.p13 chr 20 NC_000020.10:g.4575350A>G
GRCh37.p13 chr 20 NC_000020.10:g.4575350A>T
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 20 NC_000020.11:g.4594704= NC_000020.11:g.4594704A>G NC_000020.11:g.4594704A>T
GRCh37.p13 chr 20 NC_000020.10:g.4575350= NC_000020.10:g.4575350A>G NC_000020.10:g.4575350A>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#.

110 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8345857 Apr 21, 2003 (114)
2 WI_SSAHASNP ss12497461 Jul 11, 2003 (117)
3 CSHL-HAPMAP ss20129521 Feb 27, 2004 (120)
4 SSAHASNP ss21787201 Apr 05, 2004 (121)
5 ILLUMINA ss67791247 Nov 29, 2006 (127)
6 ILLUMINA ss71441696 May 16, 2007 (127)
7 ILLUMINA ss75413102 Dec 06, 2007 (129)
8 HGSV ss85925661 Dec 15, 2007 (130)
9 BCMHGSC_JDW ss91622496 Mar 24, 2008 (129)
10 HUMANGENOME_JCVI ss96183052 Feb 05, 2009 (130)
11 BGI ss106176209 Feb 05, 2009 (130)
12 1000GENOMES ss111643774 Jan 25, 2009 (130)
13 1000GENOMES ss115393994 Jan 25, 2009 (130)
14 ILLUMINA-UK ss117465924 Feb 14, 2009 (130)
15 KRIBB_YJKIM ss119505890 Dec 01, 2009 (131)
16 ENSEMBL ss135704338 Dec 01, 2009 (131)
17 ENSEMBL ss138202292 Dec 01, 2009 (131)
18 GMI ss156108428 Dec 01, 2009 (131)
19 ILLUMINA ss160759671 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss167718728 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss168937438 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss171846294 Jul 04, 2010 (132)
23 ILLUMINA ss173967718 Jul 04, 2010 (132)
24 BUSHMAN ss203815425 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss208620153 Jul 04, 2010 (132)
26 1000GENOMES ss228230352 Jul 14, 2010 (132)
27 1000GENOMES ss237744460 Jul 15, 2010 (132)
28 1000GENOMES ss243934899 Jul 15, 2010 (132)
29 BL ss255448166 May 09, 2011 (134)
30 GMI ss283283016 May 04, 2012 (137)
31 GMI ss287414982 Apr 25, 2013 (138)
32 PJP ss292568358 May 09, 2011 (134)
33 ILLUMINA ss481198270 May 04, 2012 (137)
34 ILLUMINA ss481221336 May 04, 2012 (137)
35 ILLUMINA ss482208726 Sep 08, 2015 (146)
36 ILLUMINA ss485394361 May 04, 2012 (137)
37 ILLUMINA ss537332628 Sep 08, 2015 (146)
38 TISHKOFF ss566106682 Apr 25, 2013 (138)
39 SSMP ss661977331 Apr 25, 2013 (138)
40 ILLUMINA ss778935142 Aug 21, 2014 (142)
41 ILLUMINA ss783142705 Aug 21, 2014 (142)
42 ILLUMINA ss784098874 Aug 21, 2014 (142)
43 ILLUMINA ss832401796 Apr 01, 2015 (144)
44 ILLUMINA ss834396794 Aug 21, 2014 (142)
45 EVA-GONL ss994493174 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1082036417 Aug 21, 2014 (142)
47 1000GENOMES ss1363897919 Aug 21, 2014 (142)
48 DDI ss1428981828 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1579418006 Apr 01, 2015 (144)
50 EVA_DECODE ss1698548105 Apr 01, 2015 (144)
51 EVA_SVP ss1713675598 Apr 01, 2015 (144)
52 ILLUMINA ss1752389346 Sep 08, 2015 (146)
53 HAMMER_LAB ss1809401741 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1938002775 Feb 12, 2016 (147)
55 GENOMED ss1969079605 Jul 19, 2016 (147)
56 JJLAB ss2029778779 Sep 14, 2016 (149)
57 USC_VALOUEV ss2158333158 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2240981532 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2629386851 Nov 08, 2017 (151)
60 ILLUMINA ss2633770736 Nov 08, 2017 (151)
61 GRF ss2704005257 Nov 08, 2017 (151)
62 GNOMAD ss2964972114 Nov 08, 2017 (151)
63 SWEGEN ss3017800414 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3028721610 Nov 08, 2017 (151)
65 CSHL ss3352398091 Nov 08, 2017 (151)
66 ILLUMINA ss3628340319 Oct 12, 2018 (152)
67 ILLUMINA ss3631728816 Oct 12, 2018 (152)
68 ILLUMINA ss3633242480 Oct 12, 2018 (152)
69 ILLUMINA ss3633956211 Oct 12, 2018 (152)
70 ILLUMINA ss3634824331 Oct 12, 2018 (152)
71 ILLUMINA ss3635641464 Oct 12, 2018 (152)
72 ILLUMINA ss3636514050 Oct 12, 2018 (152)
73 ILLUMINA ss3637393528 Oct 12, 2018 (152)
74 ILLUMINA ss3638332004 Oct 12, 2018 (152)
75 ILLUMINA ss3640531629 Oct 12, 2018 (152)
76 ILLUMINA ss3643295745 Oct 12, 2018 (152)
77 URBANLAB ss3650961199 Oct 12, 2018 (152)
78 EGCUT_WGS ss3684514241 Jul 13, 2019 (153)
79 EVA_DECODE ss3706475083 Jul 13, 2019 (153)
80 ACPOP ss3743210708 Jul 13, 2019 (153)
81 ILLUMINA ss3745124222 Jul 13, 2019 (153)
82 EVA ss3758369871 Jul 13, 2019 (153)
83 ILLUMINA ss3772620515 Jul 13, 2019 (153)
84 PACBIO ss3788587721 Jul 13, 2019 (153)
85 PACBIO ss3793489775 Jul 13, 2019 (153)
86 PACBIO ss3798376888 Jul 13, 2019 (153)
87 KHV_HUMAN_GENOMES ss3821541425 Jul 13, 2019 (153)
88 EVA ss3835564514 Apr 27, 2020 (154)
89 EVA ss3841406215 Apr 27, 2020 (154)
90 EVA ss3846913683 Apr 27, 2020 (154)
91 HGDP ss3847658924 Apr 27, 2020 (154)
92 SGDP_PRJ ss3888642737 Apr 27, 2020 (154)
93 KRGDB ss3938827645 Apr 27, 2020 (154)
94 KOGIC ss3981747513 Apr 27, 2020 (154)
95 EVA ss3985864310 Apr 26, 2021 (155)
96 TOPMED ss5080843859 Apr 26, 2021 (155)
97 TOMMO_GENOMICS ss5228658538 Apr 26, 2021 (155)
98 1000G_HIGH_COVERAGE ss5307939318 Oct 13, 2022 (156)
99 EVA ss5315990727 Oct 13, 2022 (156)
100 EVA ss5435992426 Oct 13, 2022 (156)
101 HUGCELL_USP ss5500353140 Oct 13, 2022 (156)
102 1000G_HIGH_COVERAGE ss5613948351 Oct 13, 2022 (156)
103 SANFORD_IMAGENETICS ss5662779184 Oct 13, 2022 (156)
104 TOMMO_GENOMICS ss5787595811 Oct 13, 2022 (156)
105 EVA ss5800014614 Oct 13, 2022 (156)
106 YY_MCH ss5817779237 Oct 13, 2022 (156)
107 EVA ss5845385323 Oct 13, 2022 (156)
108 EVA ss5853049643 Oct 13, 2022 (156)
109 EVA ss5922505462 Oct 13, 2022 (156)
110 EVA ss5957677465 Oct 13, 2022 (156)
111 1000Genomes NC_000020.10 - 4575350 Oct 12, 2018 (152)
112 1000Genomes_30x NC_000020.11 - 4594704 Oct 13, 2022 (156)
113 Genetic variation in the Estonian population NC_000020.10 - 4575350 Oct 12, 2018 (152)
114 The Danish reference pan genome NC_000020.10 - 4575350 Apr 27, 2020 (154)
115 gnomAD - Genomes NC_000020.11 - 4594704 Apr 26, 2021 (155)
116 Genome of the Netherlands Release 5 NC_000020.10 - 4575350 Apr 27, 2020 (154)
117 HGDP-CEPH-db Supplement 1 NC_000020.9 - 4523350 Apr 27, 2020 (154)
118 HapMap NC_000020.11 - 4594704 Apr 27, 2020 (154)
119 KOREAN population from KRGDB NC_000020.10 - 4575350 Apr 27, 2020 (154)
120 Korean Genome Project NC_000020.11 - 4594704 Apr 27, 2020 (154)
121 Northern Sweden NC_000020.10 - 4575350 Jul 13, 2019 (153)
122 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000020.10 - 4575350 Apr 26, 2021 (155)
123 Qatari NC_000020.10 - 4575350 Apr 27, 2020 (154)
124 SGDP_PRJ NC_000020.10 - 4575350 Apr 27, 2020 (154)
125 Siberian NC_000020.10 - 4575350 Apr 27, 2020 (154)
126 8.3KJPN NC_000020.10 - 4575350 Apr 26, 2021 (155)
127 14KJPN NC_000020.11 - 4594704 Oct 13, 2022 (156)
128 TopMed NC_000020.11 - 4594704 Apr 26, 2021 (155)
129 ALFA NC_000020.11 - 4594704 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)
rs8125406 Aug 26, 2003 (117)
rs58703701 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
336816, ss85925661, ss91622496, ss111643774, ss115393994, ss117465924, ss160759671, ss167718728, ss168937438, ss171846294, ss203815425, ss208620153, ss255448166, ss283283016, ss287414982, ss292568358, ss481198270, ss1698548105, ss1713675598, ss3643295745, ss3847658924 NC_000020.9:4523349:A:G NC_000020.11:4594703:A:G (self)
77331473, 30252489, 5582945, 19072392, 46005039, 16495573, 1090237, 20044697, 40659717, 10849512, 86627845, ss228230352, ss237744460, ss243934899, ss481221336, ss482208726, ss485394361, ss537332628, ss566106682, ss661977331, ss778935142, ss783142705, ss784098874, ss832401796, ss834396794, ss994493174, ss1082036417, ss1363897919, ss1428981828, ss1579418006, ss1752389346, ss1809401741, ss1938002775, ss1969079605, ss2029778779, ss2158333158, ss2629386851, ss2633770736, ss2704005257, ss2964972114, ss3017800414, ss3352398091, ss3628340319, ss3631728816, ss3633242480, ss3633956211, ss3634824331, ss3635641464, ss3636514050, ss3637393528, ss3638332004, ss3640531629, ss3684514241, ss3743210708, ss3745124222, ss3758369871, ss3772620515, ss3788587721, ss3793489775, ss3798376888, ss3835564514, ss3841406215, ss3888642737, ss3938827645, ss3985864310, ss5228658538, ss5315990727, ss5435992426, ss5662779184, ss5800014614, ss5845385323, ss5957677465 NC_000020.10:4575349:A:G NC_000020.11:4594703:A:G (self)
101474286, 545312972, 2057069, 38125514, 121432915, 355952804, 8268734662, ss2240981532, ss3028721610, ss3650961199, ss3706475083, ss3821541425, ss3846913683, ss3981747513, ss5080843859, ss5307939318, ss5500353140, ss5613948351, ss5787595811, ss5817779237, ss5853049643, ss5922505462 NC_000020.11:4594703:A:G NC_000020.11:4594703:A:G (self)
ss8345857, ss12497461, ss20129521, ss21787201, ss67791247, ss71441696, ss75413102, ss96183052, ss106176209, ss119505890, ss135704338, ss138202292, ss156108428, ss173967718 NT_011387.8:4515349:A:G NC_000020.11:4594703:A:G (self)
8268734662 NC_000020.11:4594703:A:T NC_000020.11:4594703: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 rs6037887

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