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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.

rs7990711

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:26169819 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.265817 (70359/264690, TOPMED)
A=0.257565 (36054/139980, GnomAD)
A=0.22245 (10684/48028, ALFA) (+ 17 more)
A=0.20065 (5670/28258, 14KJPN)
A=0.20030 (3357/16760, 8.3KJPN)
A=0.2780 (1780/6404, 1000G_30x)
A=0.2708 (1356/5008, 1000G)
A=0.1817 (814/4480, Estonian)
A=0.2120 (817/3854, ALSPAC)
A=0.1909 (708/3708, TWINSUK)
A=0.2150 (630/2930, KOREAN)
A=0.2003 (367/1832, Korea1K)
A=0.2700 (433/1604, HapMap)
A=0.212 (212/998, GoNL)
A=0.178 (107/600, NorthernSweden)
A=0.162 (84/520, SGDP_PRJ)
A=0.343 (74/216, Qatari)
A=0.190 (41/216, Vietnamese)
A=0.11 (6/54, Siberian)
A=0.20 (8/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RNF6 : Intron Variant
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 48028 A=0.22245 G=0.77755
European Sub 36504 A=0.20280 G=0.79720
African Sub 3620 A=0.3420 G=0.6580
African Others Sub 126 A=0.357 G=0.643
African American Sub 3494 A=0.3414 G=0.6586
Asian Sub 160 A=0.200 G=0.800
East Asian Sub 102 A=0.235 G=0.765
Other Asian Sub 58 A=0.14 G=0.86
Latin American 1 Sub 288 A=0.278 G=0.722
Latin American 2 Sub 2750 A=0.3073 G=0.6927
South Asian Sub 110 A=0.273 G=0.727
Other Sub 4596 A=0.2298 G=0.7702


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=0.265817 G=0.734183
gnomAD - Genomes Global Study-wide 139980 A=0.257565 G=0.742435
gnomAD - Genomes European Sub 75846 A=0.20912 G=0.79088
gnomAD - Genomes African Sub 41898 A=0.34496 G=0.65504
gnomAD - Genomes American Sub 13638 A=0.28267 G=0.71733
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.2157 G=0.7843
gnomAD - Genomes East Asian Sub 3122 A=0.1947 G=0.8053
gnomAD - Genomes Other Sub 2152 A=0.2602 G=0.7398
Allele Frequency Aggregator Total Global 48028 A=0.22245 G=0.77755
Allele Frequency Aggregator European Sub 36504 A=0.20280 G=0.79720
Allele Frequency Aggregator Other Sub 4596 A=0.2298 G=0.7702
Allele Frequency Aggregator African Sub 3620 A=0.3420 G=0.6580
Allele Frequency Aggregator Latin American 2 Sub 2750 A=0.3073 G=0.6927
Allele Frequency Aggregator Latin American 1 Sub 288 A=0.278 G=0.722
Allele Frequency Aggregator Asian Sub 160 A=0.200 G=0.800
Allele Frequency Aggregator South Asian Sub 110 A=0.273 G=0.727
14KJPN JAPANESE Study-wide 28258 A=0.20065 G=0.79935
8.3KJPN JAPANESE Study-wide 16760 A=0.20030 G=0.79970
1000Genomes_30x Global Study-wide 6404 A=0.2780 G=0.7220
1000Genomes_30x African Sub 1786 A=0.3718 G=0.6282
1000Genomes_30x Europe Sub 1266 A=0.2014 G=0.7986
1000Genomes_30x South Asian Sub 1202 A=0.2388 G=0.7612
1000Genomes_30x East Asian Sub 1170 A=0.2145 G=0.7855
1000Genomes_30x American Sub 980 A=0.330 G=0.670
1000Genomes Global Study-wide 5008 A=0.2708 G=0.7292
1000Genomes African Sub 1322 A=0.3714 G=0.6286
1000Genomes East Asian Sub 1008 A=0.2083 G=0.7917
1000Genomes Europe Sub 1006 A=0.1978 G=0.8022
1000Genomes South Asian Sub 978 A=0.240 G=0.760
1000Genomes American Sub 694 A=0.318 G=0.682
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1817 G=0.8183
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2120 G=0.7880
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1909 G=0.8091
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.2150 G=0.7850
Korean Genome Project KOREAN Study-wide 1832 A=0.2003 G=0.7997
HapMap Global Study-wide 1604 A=0.2700 G=0.7300
HapMap African Sub 686 A=0.331 G=0.669
HapMap American Sub 500 A=0.256 G=0.744
HapMap Asian Sub 250 A=0.196 G=0.804
HapMap Europe Sub 168 A=0.173 G=0.827
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.212 G=0.788
Northern Sweden ACPOP Study-wide 600 A=0.178 G=0.822
SGDP_PRJ Global Study-wide 520 A=0.162 G=0.838
Qatari Global Study-wide 216 A=0.343 G=0.657
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.190 G=0.810
Siberian Global Study-wide 54 A=0.11 G=0.89
The Danish reference pan genome Danish Study-wide 40 A=0.20 G=0.80
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 13 NC_000013.11:g.26169819A>G
GRCh37.p13 chr 13 NC_000013.10:g.26743956A>G
RNF6 RefSeqGene NG_017042.2:g.57553T>C
Gene: RNF6, ring finger protein 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RNF6 transcript variant 2 NM_183045.1:c.409-37368T>C N/A Intron Variant
RNF6 transcript variant 1 NM_005977.4:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant 4 NM_183043.3:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant 3 NM_183044.3:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X13 XM_011535178.3:c.409-3736…

XM_011535178.3:c.409-37368T>C

 		N/A Intron Variant
RNF6 transcript variant X14 XM_047430498.1:c.409-3736…

XM_047430498.1:c.409-37368T>C

 		N/A Intron Variant
RNF6 transcript variant X15 XM_047430499.1:c.409-3736…

XM_047430499.1:c.409-37368T>C

 		N/A Intron Variant
RNF6 transcript variant X16 XM_047430500.1:c.409-3736…

XM_047430500.1:c.409-37368T>C

 		N/A Intron Variant
RNF6 transcript variant X1 XM_005266485.4:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X3 XM_005266486.3:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X2 XM_011535177.4:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X6 XM_017020685.3:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X7 XM_017020686.2:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X12 XM_017020687.2:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X4 XM_024449390.2:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X9 XM_024449391.2:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X11 XM_024449392.2:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X5 XM_047430494.1:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X8 XM_047430495.1:c. N/A Genic Downstream Transcript Variant
RNF6 transcript variant X10 XM_047430496.1:c. N/A Genic Downstream Transcript 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.

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
GRCh38.p14 chr 13 NC_000013.11:g.26169819= NC_000013.11:g.26169819A>G
GRCh37.p13 chr 13 NC_000013.10:g.26743956= NC_000013.10:g.26743956A>G
RNF6 RefSeqGene NG_017042.2:g.57553= NG_017042.2:g.57553T>C
RNF6 transcript variant 2 NM_183045.1:c.409-37368= NM_183045.1:c.409-37368T>C
RNF6 transcript variant X13 XM_011535178.3:c.409-37368= XM_011535178.3:c.409-37368T>C
RNF6 transcript variant X14 XM_047430498.1:c.409-37368= XM_047430498.1:c.409-37368T>C
RNF6 transcript variant X15 XM_047430499.1:c.409-37368= XM_047430499.1:c.409-37368T>C
RNF6 transcript variant X16 XM_047430500.1:c.409-37368= XM_047430500.1:c.409-37368T>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#.

85 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12246482 Jul 11, 2003 (116)
2 SC_SNP ss13255883 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss19274347 Feb 27, 2004 (120)
4 SSAHASNP ss21051405 Apr 05, 2004 (121)
5 ABI ss40352477 Mar 13, 2006 (126)
6 AFFY ss66269873 Dec 02, 2006 (127)
7 AFFY ss76414593 Dec 07, 2007 (129)
8 HGSV ss78352140 Dec 07, 2007 (129)
9 HGSV ss79889102 Dec 15, 2007 (130)
10 KRIBB_YJKIM ss82529559 Dec 14, 2007 (130)
11 BCMHGSC_JDW ss89546181 Mar 24, 2008 (129)
12 HUMANGENOME_JCVI ss96952992 Feb 06, 2009 (130)
13 BGI ss106320949 Feb 06, 2009 (130)
14 1000GENOMES ss112629614 Jan 25, 2009 (130)
15 1000GENOMES ss114438469 Jan 25, 2009 (130)
16 ILLUMINA-UK ss118394096 Feb 14, 2009 (130)
17 ENSEMBL ss133493844 Dec 01, 2009 (131)
18 ENSEMBL ss137280186 Dec 01, 2009 (131)
19 GMI ss154556061 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss167746719 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss169013010 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss170902116 Jul 04, 2010 (132)
23 AFFY ss173511702 Jul 04, 2010 (132)
24 BUSHMAN ss198990634 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss208616734 Jul 04, 2010 (132)
26 1000GENOMES ss226088207 Jul 14, 2010 (132)
27 1000GENOMES ss236182273 Jul 15, 2010 (132)
28 1000GENOMES ss242692059 Jul 15, 2010 (132)
29 BL ss254867369 May 09, 2011 (134)
30 GMI ss281645720 May 04, 2012 (137)
31 GMI ss286671426 Apr 25, 2013 (138)
32 PJP ss291560599 May 09, 2011 (134)
33 TISHKOFF ss563559241 Apr 25, 2013 (138)
34 SSMP ss659154658 Apr 25, 2013 (138)
35 EVA-GONL ss990207995 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1078948475 Aug 21, 2014 (142)
37 1000GENOMES ss1347547283 Aug 21, 2014 (142)
38 DDI ss1427133942 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1576681878 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1629917206 Apr 01, 2015 (144)
41 EVA_DECODE ss1642312793 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1672911239 Apr 01, 2015 (144)
43 EVA_SVP ss1713376796 Apr 01, 2015 (144)
44 HAMMER_LAB ss1807532272 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1933576788 Feb 12, 2016 (147)
46 GENOMED ss1967738376 Jul 19, 2016 (147)
47 JJLAB ss2027543389 Sep 14, 2016 (149)
48 USC_VALOUEV ss2155907520 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2194953413 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2628259557 Nov 08, 2017 (151)
51 GRF ss2700279790 Nov 08, 2017 (151)
52 GNOMAD ss2917743527 Nov 08, 2017 (151)
53 SWEGEN ss3010743735 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3027586569 Nov 08, 2017 (151)
55 CSHL ss3350372337 Nov 08, 2017 (151)
56 URBANLAB ss3649991605 Oct 12, 2018 (152)
57 EGCUT_WGS ss3678004833 Jul 13, 2019 (153)
58 EVA_DECODE ss3694953370 Jul 13, 2019 (153)
59 ACPOP ss3739595141 Jul 13, 2019 (153)
60 ILLUMINA ss3744404404 Jul 13, 2019 (153)
61 EVA ss3751252707 Jul 13, 2019 (153)
62 PACBIO ss3787408583 Jul 13, 2019 (153)
63 PACBIO ss3792481997 Jul 13, 2019 (153)
64 PACBIO ss3797365721 Jul 13, 2019 (153)
65 KHV_HUMAN_GENOMES ss3816583954 Jul 13, 2019 (153)
66 EVA ss3833456146 Apr 27, 2020 (154)
67 EVA ss3840304470 Apr 27, 2020 (154)
68 EVA ss3845789059 Apr 27, 2020 (154)
69 SGDP_PRJ ss3879622099 Apr 27, 2020 (154)
70 KRGDB ss3928441312 Apr 27, 2020 (154)
71 KOGIC ss3973232251 Apr 27, 2020 (154)
72 TOPMED ss4940383732 Apr 26, 2021 (155)
73 TOMMO_GENOMICS ss5209236796 Apr 26, 2021 (155)
74 1000G_HIGH_COVERAGE ss5293144027 Oct 16, 2022 (156)
75 EVA ss5409690368 Oct 16, 2022 (156)
76 HUGCELL_USP ss5487565192 Oct 16, 2022 (156)
77 EVA ss5510912855 Oct 16, 2022 (156)
78 1000G_HIGH_COVERAGE ss5591799728 Oct 16, 2022 (156)
79 SANFORD_IMAGENETICS ss5654429376 Oct 16, 2022 (156)
80 TOMMO_GENOMICS ss5760894577 Oct 16, 2022 (156)
81 YY_MCH ss5813962833 Oct 16, 2022 (156)
82 EVA ss5839240887 Oct 16, 2022 (156)
83 EVA ss5850654022 Oct 16, 2022 (156)
84 EVA ss5924422940 Oct 16, 2022 (156)
85 EVA ss5945833945 Oct 16, 2022 (156)
86 1000Genomes NC_000013.10 - 26743956 Oct 12, 2018 (152)
87 1000Genomes_30x NC_000013.11 - 26169819 Oct 16, 2022 (156)
88 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 26743956 Oct 12, 2018 (152)
89 Genetic variation in the Estonian population NC_000013.10 - 26743956 Oct 12, 2018 (152)
90 The Danish reference pan genome NC_000013.10 - 26743956 Apr 27, 2020 (154)
91 gnomAD - Genomes NC_000013.11 - 26169819 Apr 26, 2021 (155)
92 Genome of the Netherlands Release 5 NC_000013.10 - 26743956 Apr 27, 2020 (154)
93 HapMap NC_000013.11 - 26169819 Apr 27, 2020 (154)
94 KOREAN population from KRGDB NC_000013.10 - 26743956 Apr 27, 2020 (154)
95 Korean Genome Project NC_000013.11 - 26169819 Apr 27, 2020 (154)
96 Northern Sweden NC_000013.10 - 26743956 Jul 13, 2019 (153)
97 Qatari NC_000013.10 - 26743956 Apr 27, 2020 (154)
98 SGDP_PRJ NC_000013.10 - 26743956 Apr 27, 2020 (154)
99 Siberian NC_000013.10 - 26743956 Apr 27, 2020 (154)
100 8.3KJPN NC_000013.10 - 26743956 Apr 26, 2021 (155)
101 14KJPN NC_000013.11 - 26169819 Oct 16, 2022 (156)
102 TopMed NC_000013.11 - 26169819 Apr 26, 2021 (155)
103 UK 10K study - Twins NC_000013.10 - 26743956 Oct 12, 2018 (152)
104 A Vietnamese Genetic Variation Database NC_000013.10 - 26743956 Jul 13, 2019 (153)
105 ALFA NC_000013.11 - 26169819 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)
rs57625752 Feb 27, 2009 (130)
rs60356000 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78352140, ss79889102, ss89546181, ss112629614, ss114438469, ss118394096, ss167746719, ss169013010, ss170902116, ss198990634, ss208616734, ss254867369, ss281645720, ss286671426, ss291560599, ss1642312793, ss1713376796 NC_000013.9:25641955:A:G NC_000013.11:26169818:A:G (self)
60392806, 33539612, 23743081, 3226015, 14965059, 35618706, 12880006, 15618718, 31639079, 8423874, 67206103, 33539612, 7440237, ss226088207, ss236182273, ss242692059, ss563559241, ss659154658, ss990207995, ss1078948475, ss1347547283, ss1427133942, ss1576681878, ss1629917206, ss1672911239, ss1807532272, ss1933576788, ss1967738376, ss2027543389, ss2155907520, ss2628259557, ss2700279790, ss2917743527, ss3010743735, ss3350372337, ss3678004833, ss3739595141, ss3744404404, ss3751252707, ss3787408583, ss3792481997, ss3797365721, ss3833456146, ss3840304470, ss3879622099, ss3928441312, ss5209236796, ss5409690368, ss5510912855, ss5654429376, ss5839240887, ss5945833945 NC_000013.10:26743955:A:G NC_000013.11:26169818:A:G (self)
79325663, 425872263, 951000, 29610252, 94731681, 155929390, 9215655312, ss2194953413, ss3027586569, ss3649991605, ss3694953370, ss3816583954, ss3845789059, ss3973232251, ss4940383732, ss5293144027, ss5487565192, ss5591799728, ss5760894577, ss5813962833, ss5850654022, ss5924422940 NC_000013.11:26169818:A:G NC_000013.11:26169818:A:G (self)
ss12246482, ss13255883 NT_009799.12:7723955:A:G NC_000013.11:26169818:A:G (self)
ss19274347, ss21051405 NT_024524.13:7723955:A:G NC_000013.11:26169818:A:G (self)
ss40352477, ss66269873, ss76414593, ss82529559, ss96952992, ss106320949, ss133493844, ss137280186, ss154556061, ss173511702 NT_024524.14:7723955:A:G NC_000013.11:26169818:A: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 rs7990711

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