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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.

rs4713137

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr6:28115743 (GRCh38.p13) 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
C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.245306 (64930/264690, TOPMED)
G=0.239397 (33540/140102, GnomAD)
G=0.22323 (4970/22264, ALFA) (+ 14 more)
G=0.25042 (4197/16760, 8.3KJPN)
G=0.2230 (1117/5008, 1000G)
G=0.1915 (858/4480, Estonian)
G=0.2491 (960/3854, ALSPAC)
G=0.2443 (906/3708, TWINSUK)
G=0.1958 (572/2922, KOREAN)
G=0.235 (235/998, GoNL)
G=0.248 (149/600, NorthernSweden)
G=0.256 (82/320, HapMap)
G=0.083 (18/216, Qatari)
G=0.192 (41/214, Vietnamese)
C=0.419 (62/148, SGDP_PRJ)
G=0.20 (8/40, GENOME_DK)
C=0.46 (11/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 6 NC_000006.12:g.28115743C>G
GRCh37.p13 chr 6 NC_000006.11:g.28083521C>G
ZNF602P pseudogene NG_025918.1:g.195C>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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 22264 C=0.77677 G=0.22323
European Sub 17594 C=0.78953 G=0.21047
African Sub 2946 C=0.7037 G=0.2963
African Others Sub 114 C=0.640 G=0.360
African American Sub 2832 C=0.7062 G=0.2938
Asian Sub 112 C=0.839 G=0.161
East Asian Sub 86 C=0.85 G=0.15
Other Asian Sub 26 C=0.81 G=0.19
Latin American 1 Sub 146 C=0.753 G=0.247
Latin American 2 Sub 610 C=0.752 G=0.248
South Asian Sub 98 C=0.83 G=0.17
Other Sub 758 C=0.773 G=0.227


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 C=0.754694 G=0.245306
gnomAD - Genomes Global Study-wide 140102 C=0.760603 G=0.239397
gnomAD - Genomes European Sub 75898 C=0.78744 G=0.21256
gnomAD - Genomes African Sub 41968 C=0.70299 G=0.29701
gnomAD - Genomes American Sub 13646 C=0.75502 G=0.24498
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.8225 G=0.1775
gnomAD - Genomes East Asian Sub 3124 C=0.8422 G=0.1578
gnomAD - Genomes Other Sub 2148 C=0.7593 G=0.2407
8.3KJPN JAPANESE Study-wide 16760 C=0.74958 G=0.25042
1000Genomes Global Study-wide 5008 C=0.7770 G=0.2230
1000Genomes African Sub 1322 C=0.6944 G=0.3056
1000Genomes East Asian Sub 1008 C=0.8125 G=0.1875
1000Genomes Europe Sub 1006 C=0.8022 G=0.1978
1000Genomes South Asian Sub 978 C=0.856 G=0.144
1000Genomes American Sub 694 C=0.735 G=0.265
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8085 G=0.1915
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7509 G=0.2491
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7557 G=0.2443
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.8042 G=0.1958
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.765 G=0.235
Northern Sweden ACPOP Study-wide 600 C=0.752 G=0.248
HapMap Global Study-wide 320 C=0.744 G=0.256
HapMap American Sub 120 C=0.758 G=0.242
HapMap African Sub 110 C=0.700 G=0.300
HapMap Asian Sub 90 C=0.78 G=0.22
Qatari Global Study-wide 216 C=0.917 G=0.083
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.808 G=0.192
SGDP_PRJ Global Study-wide 148 C=0.419 G=0.581
The Danish reference pan genome Danish Study-wide 40 C=0.80 G=0.20
Siberian Global Study-wide 24 C=0.46 G=0.54
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 C= G
GRCh38.p13 chr 6 NC_000006.12:g.28115743= NC_000006.12:g.28115743C>G
GRCh37.p13 chr 6 NC_000006.11:g.28083521= NC_000006.11:g.28083521C>G
ZNF602P pseudogene NG_025918.1:g.195= NG_025918.1:g.195C>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#.

85 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6494660 Feb 20, 2003 (111)
2 ILLUMINA ss75236917 Dec 06, 2007 (129)
3 HUMANGENOME_JCVI ss98483583 Feb 06, 2009 (130)
4 1000GENOMES ss109857915 Jan 24, 2009 (130)
5 1000GENOMES ss114074874 Jan 25, 2009 (130)
6 ILLUMINA-UK ss116369667 Feb 14, 2009 (130)
7 KRIBB_YJKIM ss119485131 Dec 01, 2009 (131)
8 ENSEMBL ss142575698 Dec 01, 2009 (131)
9 ILLUMINA ss160701553 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss163288482 Jul 04, 2010 (132)
11 ILLUMINA ss173787710 Jul 04, 2010 (132)
12 BUSHMAN ss201570479 Jul 04, 2010 (132)
13 1000GENOMES ss222278537 Jul 14, 2010 (132)
14 1000GENOMES ss233375587 Jul 14, 2010 (132)
15 1000GENOMES ss240448370 Jul 15, 2010 (132)
16 GMI ss278702599 May 04, 2012 (137)
17 GMI ss285363875 Apr 25, 2013 (138)
18 PJP ss293815320 May 09, 2011 (134)
19 ILLUMINA ss481014611 May 04, 2012 (137)
20 ILLUMINA ss481035536 May 04, 2012 (137)
21 ILLUMINA ss482020556 Sep 08, 2015 (146)
22 ILLUMINA ss485302271 May 04, 2012 (137)
23 ILLUMINA ss536250389 Sep 08, 2015 (146)
24 TISHKOFF ss559089024 Apr 25, 2013 (138)
25 SSMP ss653001779 Apr 25, 2013 (138)
26 ILLUMINA ss778342344 Aug 21, 2014 (142)
27 ILLUMINA ss783096994 Aug 21, 2014 (142)
28 ILLUMINA ss784054297 Aug 21, 2014 (142)
29 ILLUMINA ss832355530 Apr 01, 2015 (144)
30 ILLUMINA ss833796955 Aug 21, 2014 (142)
31 EVA-GONL ss982720589 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1073478326 Aug 21, 2014 (142)
33 1000GENOMES ss1319453868 Aug 21, 2014 (142)
34 DDI ss1430680282 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1581585822 Apr 01, 2015 (144)
36 EVA_DECODE ss1592270711 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1615215718 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1658209751 Apr 01, 2015 (144)
39 ILLUMINA ss1752622610 Sep 08, 2015 (146)
40 HAMMER_LAB ss1804337045 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1925973159 Feb 12, 2016 (147)
42 GENOMED ss1970343389 Jul 19, 2016 (147)
43 JJLAB ss2023610170 Sep 14, 2016 (149)
44 USC_VALOUEV ss2151774778 Nov 08, 2017 (151)
45 HUMAN_LONGEVITY ss2282767750 Dec 20, 2016 (150)
46 TOPMED ss2451132987 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2626291842 Nov 08, 2017 (151)
48 ILLUMINA ss2634419068 Nov 08, 2017 (151)
49 GRF ss2707367486 Nov 08, 2017 (151)
50 GNOMAD ss2837151035 Nov 08, 2017 (151)
51 AFFY ss2985988181 Nov 08, 2017 (151)
52 SWEGEN ss2998725939 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3025590702 Nov 08, 2017 (151)
54 CSHL ss3346899394 Nov 08, 2017 (151)
55 TOPMED ss3493247120 Nov 08, 2017 (151)
56 ILLUMINA ss3629479545 Oct 12, 2018 (152)
57 ILLUMINA ss3632338561 Oct 12, 2018 (152)
58 ILLUMINA ss3633411648 Oct 12, 2018 (152)
59 ILLUMINA ss3634133863 Oct 12, 2018 (152)
60 ILLUMINA ss3635051096 Oct 12, 2018 (152)
61 ILLUMINA ss3635815067 Oct 12, 2018 (152)
62 ILLUMINA ss3636768647 Oct 12, 2018 (152)
63 ILLUMINA ss3637567803 Oct 12, 2018 (152)
64 ILLUMINA ss3638614891 Oct 12, 2018 (152)
65 ILLUMINA ss3640758392 Oct 12, 2018 (152)
66 ILLUMINA ss3643556130 Oct 12, 2018 (152)
67 URBANLAB ss3648298178 Oct 12, 2018 (152)
68 EGCUT_WGS ss3666654713 Jul 13, 2019 (153)
69 EVA_DECODE ss3716837043 Jul 13, 2019 (153)
70 ACPOP ss3733317491 Jul 13, 2019 (153)
71 ILLUMINA ss3745351177 Jul 13, 2019 (153)
72 EVA ss3764772342 Jul 13, 2019 (153)
73 ILLUMINA ss3772844930 Jul 13, 2019 (153)
74 PACBIO ss3785409451 Jul 13, 2019 (153)
75 PACBIO ss3790769859 Jul 13, 2019 (153)
76 PACBIO ss3795647214 Jul 13, 2019 (153)
77 KHV_HUMAN_GENOMES ss3807930568 Jul 13, 2019 (153)
78 EVA ss3829802477 Apr 26, 2020 (154)
79 EVA ss3838378116 Apr 26, 2020 (154)
80 EVA ss3843819047 Apr 26, 2020 (154)
81 SGDP_PRJ ss3864176882 Apr 26, 2020 (154)
82 KRGDB ss3910949620 Apr 26, 2020 (154)
83 EVA ss4017262365 Apr 26, 2021 (155)
84 TOPMED ss4697664057 Apr 26, 2021 (155)
85 TOMMO_GENOMICS ss5176708195 Apr 26, 2021 (155)
86 1000Genomes NC_000006.11 - 28083521 Oct 12, 2018 (152)
87 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 28083521 Oct 12, 2018 (152)
88 Genetic variation in the Estonian population NC_000006.11 - 28083521 Oct 12, 2018 (152)
89 The Danish reference pan genome NC_000006.11 - 28083521 Apr 26, 2020 (154)
90 gnomAD - Genomes NC_000006.12 - 28115743 Apr 26, 2021 (155)
91 Genome of the Netherlands Release 5 NC_000006.11 - 28083521 Apr 26, 2020 (154)
92 HapMap NC_000006.12 - 28115743 Apr 26, 2020 (154)
93 KOREAN population from KRGDB NC_000006.11 - 28083521 Apr 26, 2020 (154)
94 Northern Sweden NC_000006.11 - 28083521 Jul 13, 2019 (153)
95 Qatari NC_000006.11 - 28083521 Apr 26, 2020 (154)
96 SGDP_PRJ NC_000006.11 - 28083521 Apr 26, 2020 (154)
97 Siberian NC_000006.11 - 28083521 Apr 26, 2020 (154)
98 8.3KJPN NC_000006.11 - 28083521 Apr 26, 2021 (155)
99 TopMed NC_000006.12 - 28115743 Apr 26, 2021 (155)
100 UK 10K study - Twins NC_000006.11 - 28083521 Oct 12, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000006.11 - 28083521 Jul 13, 2019 (153)
102 ALFA NC_000006.12 - 28115743 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss109857915, ss114074874, ss116369667, ss163288482, ss201570479, ss278702599, ss285363875, ss293815320, ss481014611, ss1592270711, ss3643556130 NC_000006.10:28191499:C:G NC_000006.12:28115742:C:G (self)
31216895, 17398319, 12392961, 7750761, 7721593, 18127014, 6602356, 8015089, 16193862, 4291132, 34677502, 17398319, 3852172, ss222278537, ss233375587, ss240448370, ss481035536, ss482020556, ss485302271, ss536250389, ss559089024, ss653001779, ss778342344, ss783096994, ss784054297, ss832355530, ss833796955, ss982720589, ss1073478326, ss1319453868, ss1430680282, ss1581585822, ss1615215718, ss1658209751, ss1752622610, ss1804337045, ss1925973159, ss1970343389, ss2023610170, ss2151774778, ss2451132987, ss2626291842, ss2634419068, ss2707367486, ss2837151035, ss2985988181, ss2998725939, ss3346899394, ss3629479545, ss3632338561, ss3633411648, ss3634133863, ss3635051096, ss3635815067, ss3636768647, ss3637567803, ss3638614891, ss3640758392, ss3666654713, ss3733317491, ss3745351177, ss3764772342, ss3772844930, ss3785409451, ss3790769859, ss3795647214, ss3829802477, ss3838378116, ss3864176882, ss3910949620, ss4017262365, ss5176708195 NC_000006.11:28083520:C:G NC_000006.12:28115742:C:G (self)
220559990, 3090419, 334591267, 535041615, 4497597457, ss2282767750, ss3025590702, ss3493247120, ss3648298178, ss3716837043, ss3807930568, ss3843819047, ss4697664057 NC_000006.12:28115742:C:G NC_000006.12:28115742:C:G (self)
ss6494660, ss75236917, ss98483583, ss119485131, ss142575698, ss160701553, ss173787710 NT_007592.15:28023520:C:G NC_000006.12:28115742:C: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 rs4713137

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.post596+ae089ad