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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.

rs6037369

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:26315892 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.056700 (15008/264690, TOPMED)
T=0.056817 (7886/138796, GnomAD)
T=0.00014 (4/28258, 14KJPN) (+ 15 more)
T=0.04696 (897/19100, ALFA)
T=0.00006 (1/16760, 8.3KJPN)
T=0.0458 (293/6404, 1000G_30x)
T=0.0421 (211/5008, 1000G)
T=0.0405 (156/3854, ALSPAC)
T=0.0378 (140/3708, TWINSUK)
T=0.0123 (36/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.046 (46/998, GoNL)
T=0.032 (19/598, NorthernSweden)
T=0.022 (12/554, SGDP_PRJ)
T=0.116 (25/216, Qatari)
T=0.009 (2/214, Vietnamese)
T=0.04 (2/56, Siberian)
T=0.05 (2/40, 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 19100 T=0.04696 A=0.00000, C=0.95304
European Sub 12722 T=0.04064 A=0.00000, C=0.95936
African Sub 1498 T=0.1275 A=0.0000, C=0.8725
African Others Sub 64 T=0.09 A=0.00, C=0.91
African American Sub 1434 T=0.1290 A=0.0000, C=0.8710
Asian Sub 20 T=0.00 A=0.00, C=1.00
East Asian Sub 14 T=0.00 A=0.00, C=1.00
Other Asian Sub 6 T=0.0 A=0.0, C=1.0
Latin American 1 Sub 378 T=0.077 A=0.000, C=0.923
Latin American 2 Sub 4004 T=0.0327 A=0.0000, C=0.9673
South Asian Sub 34 T=0.00 A=0.00, C=1.00
Other Sub 444 T=0.065 A=0.000, C=0.935


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 T=0.056700 C=0.943300
gnomAD - Genomes Global Study-wide 138796 T=0.056817 C=0.943183
gnomAD - Genomes European Sub 75242 T=0.03959 C=0.96041
gnomAD - Genomes African Sub 41774 T=0.10006 C=0.89994
gnomAD - Genomes American Sub 13286 T=0.03884 C=0.96116
gnomAD - Genomes Ashkenazi Jewish Sub 3296 T=0.0282 C=0.9718
gnomAD - Genomes East Asian Sub 3070 T=0.0003 C=0.9997
gnomAD - Genomes Other Sub 2128 T=0.0550 C=0.9450
14KJPN JAPANESE Study-wide 28258 T=0.00014 C=0.99986
Allele Frequency Aggregator Total Global 19100 T=0.04696 A=0.00000, C=0.95304
Allele Frequency Aggregator European Sub 12722 T=0.04064 A=0.00000, C=0.95936
Allele Frequency Aggregator Latin American 2 Sub 4004 T=0.0327 A=0.0000, C=0.9673
Allele Frequency Aggregator African Sub 1498 T=0.1275 A=0.0000, C=0.8725
Allele Frequency Aggregator Other Sub 444 T=0.065 A=0.000, C=0.935
Allele Frequency Aggregator Latin American 1 Sub 378 T=0.077 A=0.000, C=0.923
Allele Frequency Aggregator South Asian Sub 34 T=0.00 A=0.00, C=1.00
Allele Frequency Aggregator Asian Sub 20 T=0.00 A=0.00, C=1.00
8.3KJPN JAPANESE Study-wide 16760 T=0.00006 C=0.99994
1000Genomes_30x Global Study-wide 6404 T=0.0458 C=0.9542
1000Genomes_30x African Sub 1786 T=0.1103 C=0.8897
1000Genomes_30x Europe Sub 1266 T=0.0411 C=0.9589
1000Genomes_30x South Asian Sub 1202 T=0.0083 C=0.9917
1000Genomes_30x East Asian Sub 1170 T=0.0000 C=1.0000
1000Genomes_30x American Sub 980 T=0.035 C=0.965
1000Genomes Global Study-wide 5008 T=0.0421 C=0.9579
1000Genomes African Sub 1322 T=0.1067 C=0.8933
1000Genomes East Asian Sub 1008 T=0.0000 C=1.0000
1000Genomes Europe Sub 1006 T=0.0388 C=0.9612
1000Genomes South Asian Sub 978 T=0.008 C=0.992
1000Genomes American Sub 694 T=0.033 C=0.967
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0405 C=0.9595
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0378 C=0.9622
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.0123 A=0.0000, C=0.9877, G=0.0000
Korean Genome Project KOREAN Study-wide 1832 T=0.0000 C=1.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.046 C=0.954
Northern Sweden ACPOP Study-wide 598 T=0.032 C=0.968
SGDP_PRJ Global Study-wide 554 T=0.022 C=0.978
Qatari Global Study-wide 216 T=0.116 C=0.884
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.009 C=0.991
Siberian Global Study-wide 56 T=0.04 C=0.96
The Danish reference pan genome Danish Study-wide 40 T=0.05 C=0.95
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.26315892T>A
GRCh38.p14 chr 20 NC_000020.11:g.26315892T>C
GRCh38.p14 chr 20 NC_000020.11:g.26315892T>G
GRCh37.p13 chr 20 NC_000020.10:g.26296528T>A
GRCh37.p13 chr 20 NC_000020.10:g.26296528T>C
GRCh37.p13 chr 20 NC_000020.10:g.26296528T>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 T= A C G
GRCh38.p14 chr 20 NC_000020.11:g.26315892= NC_000020.11:g.26315892T>A NC_000020.11:g.26315892T>C NC_000020.11:g.26315892T>G
GRCh37.p13 chr 20 NC_000020.10:g.26296528= NC_000020.10:g.26296528T>A NC_000020.10:g.26296528T>C NC_000020.10:g.26296528T>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#.

61 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8345127 Apr 21, 2003 (114)
2 SC_SNP ss11106576 Jul 11, 2003 (126)
3 SSAHASNP ss21763030 Apr 05, 2004 (126)
4 HGSV ss78747855 Dec 07, 2007 (129)
5 HGSV ss80994330 Dec 15, 2007 (130)
6 BCMHGSC_JDW ss91679085 Mar 24, 2008 (129)
7 HUMANGENOME_JCVI ss96192994 Feb 06, 2009 (130)
8 BUSHMAN ss203868796 Aug 21, 2014 (142)
9 BCM-HGSC-SUB ss208659559 Jul 04, 2010 (132)
10 BL ss255579702 May 09, 2011 (134)
11 GMI ss283354068 May 04, 2012 (137)
12 GMI ss287446193 Apr 25, 2013 (138)
13 PJP ss292638335 May 09, 2011 (134)
14 1000GENOMES ss340702284 May 09, 2011 (134)
15 ILLUMINA ss482208618 Sep 08, 2015 (146)
16 SSMP ss662091158 Apr 25, 2013 (138)
17 EVA-GONL ss994663327 Aug 21, 2014 (142)
18 JMKIDD_LAB ss1082164799 Aug 21, 2014 (142)
19 1000GENOMES ss1364532610 Aug 21, 2014 (142)
20 DDI ss1429035897 Apr 01, 2015 (144)
21 EVA_GENOME_DK ss1579486539 Apr 01, 2015 (144)
22 EVA_UK10K_ALSPAC ss1638659940 Apr 01, 2015 (144)
23 EVA_UK10K_TWINSUK ss1681653973 Apr 01, 2015 (144)
24 WEILL_CORNELL_DGM ss1938173328 Feb 12, 2016 (147)
25 JJLAB ss2029871099 Sep 14, 2016 (149)
26 USC_VALOUEV ss2158427155 Dec 20, 2016 (150)
27 GRF ss2704112344 Nov 08, 2017 (151)
28 GNOMAD ss2966732616 Nov 08, 2017 (151)
29 SWEGEN ss3018072219 Nov 08, 2017 (151)
30 BIOINF_KMB_FNS_UNIBA ss3028767714 Nov 08, 2017 (151)
31 CSHL ss3352481322 Nov 08, 2017 (151)
32 ILLUMINA ss3636524392 Oct 12, 2018 (152)
33 URBANLAB ss3650996994 Oct 12, 2018 (152)
34 EVA_DECODE ss3706788248 Jul 13, 2019 (153)
35 ACPOP ss3743348088 Jul 13, 2019 (153)
36 EVA ss3758570892 Jul 13, 2019 (153)
37 PACBIO ss3788631110 Jul 13, 2019 (153)
38 PACBIO ss3793526840 Jul 13, 2019 (153)
39 PACBIO ss3798414020 Jul 13, 2019 (153)
40 KHV_HUMAN_GENOMES ss3821737474 Jul 13, 2019 (153)
41 EVA ss3835646984 Apr 27, 2020 (154)
42 EVA ss3841449965 Apr 27, 2020 (154)
43 EVA ss3846958152 Apr 27, 2020 (154)
44 SGDP_PRJ ss3888977509 Apr 27, 2020 (154)
45 KRGDB ss3939213400 Apr 27, 2020 (154)
46 KOGIC ss3982039192 Apr 27, 2020 (154)
47 TOPMED ss5086326295 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5229358820 Apr 26, 2021 (155)
49 1000G_HIGH_COVERAGE ss5308488644 Oct 13, 2022 (156)
50 EVA ss5437013168 Oct 13, 2022 (156)
51 HUGCELL_USP ss5500847682 Oct 13, 2022 (156)
52 EVA ss5512198992 Oct 13, 2022 (156)
53 1000G_HIGH_COVERAGE ss5614781028 Oct 13, 2022 (156)
54 SANFORD_IMAGENETICS ss5663098422 Oct 13, 2022 (156)
55 TOMMO_GENOMICS ss5788497035 Oct 13, 2022 (156)
56 YY_MCH ss5817918542 Oct 13, 2022 (156)
57 EVA ss5845610067 Oct 13, 2022 (156)
58 EVA ss5853118043 Oct 13, 2022 (156)
59 EVA ss5923143400 Oct 13, 2022 (156)
60 EVA ss5958012441 Oct 13, 2022 (156)
61 EVA ss5981083064 Oct 13, 2022 (156)
62 1000Genomes NC_000020.10 - 26296528 Oct 12, 2018 (152)
63 1000Genomes_30x NC_000020.11 - 26315892 Oct 13, 2022 (156)
64 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 26296528 Oct 12, 2018 (152)
65 The Danish reference pan genome NC_000020.10 - 26296528 Apr 27, 2020 (154)
66 gnomAD - Genomes NC_000020.11 - 26315892 Apr 26, 2021 (155)
67 Genome of the Netherlands Release 5 NC_000020.10 - 26296528 Apr 27, 2020 (154)
68 KOREAN population from KRGDB NC_000020.10 - 26296528 Apr 27, 2020 (154)
69 Korean Genome Project NC_000020.11 - 26315892 Apr 27, 2020 (154)
70 Northern Sweden NC_000020.10 - 26296528 Jul 13, 2019 (153)
71 Qatari NC_000020.10 - 26296528 Apr 27, 2020 (154)
72 SGDP_PRJ NC_000020.10 - 26296528 Apr 27, 2020 (154)
73 Siberian NC_000020.10 - 26296528 Apr 27, 2020 (154)
74 8.3KJPN NC_000020.10 - 26296528 Apr 26, 2021 (155)
75 14KJPN NC_000020.11 - 26315892 Oct 13, 2022 (156)
76 TopMed NC_000020.11 - 26315892 Apr 26, 2021 (155)
77 UK 10K study - Twins NC_000020.10 - 26296528 Oct 12, 2018 (152)
78 A Vietnamese Genetic Variation Database NC_000020.10 - 26296528 Jul 13, 2019 (153)
79 ALFA NC_000020.11 - 26315892 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)
rs7344867 May 23, 2006 (127)
rs60273724 May 25, 2008 (130)
rs75318596 Aug 21, 2014 (142)
rs201127012 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
46390794, ss3939213400 NC_000020.10:26296527:T:A NC_000020.11:26315891:T:A (self)
12244332414 NC_000020.11:26315891:T:A NC_000020.11:26315891:T:A (self)
ss78747855, ss80994330, ss91679085, ss203868796, ss208659559, ss255579702, ss283354068, ss287446193, ss292638335 NC_000020.9:26244527:T:C NC_000020.11:26315891:T:C (self)
77987631, 43175167, 5651478, 19238804, 46390794, 16632953, 20215250, 40994489, 10943509, 87328127, 43175167, 9532618, ss340702284, ss482208618, ss662091158, ss994663327, ss1082164799, ss1364532610, ss1429035897, ss1579486539, ss1638659940, ss1681653973, ss1938173328, ss2029871099, ss2158427155, ss2704112344, ss2966732616, ss3018072219, ss3352481322, ss3636524392, ss3743348088, ss3758570892, ss3788631110, ss3793526840, ss3798414020, ss3835646984, ss3841449965, ss3888977509, ss3939213400, ss5229358820, ss5437013168, ss5512198992, ss5663098422, ss5845610067, ss5958012441, ss5981083064 NC_000020.10:26296527:T:C NC_000020.11:26315891:T:C (self)
102306963, 549799660, 38417193, 122334139, 361435240, 12244332414, ss3028767714, ss3650996994, ss3706788248, ss3821737474, ss3846958152, ss3982039192, ss5086326295, ss5308488644, ss5500847682, ss5614781028, ss5788497035, ss5817918542, ss5853118043, ss5923143400 NC_000020.11:26315891:T:C NC_000020.11:26315891:T:C (self)
ss8345127, ss11106576, ss21763030, ss96192994 NT_011387.8:26236527:T:C NC_000020.11:26315891:T:C (self)
46390794, ss3939213400 NC_000020.10:26296527:T:G NC_000020.11:26315891:T: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 rs6037369

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