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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.

rs4770952

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:26191226 (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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.459148 (121532/264690, TOPMED)
G=0.468680 (65378/139494, GnomAD)
A=0.25264 (7139/28258, 14KJPN) (+ 15 more)
A=0.47485 (8970/18890, ALFA)
A=0.25400 (4257/16760, 8.3KJPN)
G=0.4552 (2915/6404, 1000G_30x)
G=0.4585 (2296/5008, 1000G)
A=0.3772 (1690/4480, Estonian)
A=0.4107 (1583/3854, ALSPAC)
A=0.4239 (1572/3708, TWINSUK)
A=0.2334 (684/2930, KOREAN)
A=0.2364 (433/1832, Korea1K)
A=0.415 (414/998, GoNL)
A=0.418 (251/600, NorthernSweden)
A=0.293 (113/386, SGDP_PRJ)
G=0.384 (83/216, Qatari)
A=0.30 (15/50, Siberian)
A=0.40 (16/40, 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 18890 A=0.47485 G=0.52515
European Sub 14286 A=0.40438 G=0.59562
African Sub 2946 A=0.8456 G=0.1544
African Others Sub 114 A=0.947 G=0.053
African American Sub 2832 A=0.8415 G=0.1585
Asian Sub 112 A=0.295 G=0.705
East Asian Sub 86 A=0.28 G=0.72
Other Asian Sub 26 A=0.35 G=0.65
Latin American 1 Sub 146 A=0.521 G=0.479
Latin American 2 Sub 610 A=0.310 G=0.690
South Asian Sub 98 A=0.57 G=0.43
Other Sub 692 A=0.503 G=0.497


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=0.540852 G=0.459148
gnomAD - Genomes Global Study-wide 139494 A=0.531320 G=0.468680
gnomAD - Genomes European Sub 75386 A=0.39859 G=0.60141
gnomAD - Genomes African Sub 41960 A=0.83682 G=0.16318
gnomAD - Genomes American Sub 13574 A=0.39045 G=0.60955
gnomAD - Genomes Ashkenazi Jewish Sub 3314 A=0.4707 G=0.5293
gnomAD - Genomes East Asian Sub 3126 A=0.3209 G=0.6791
gnomAD - Genomes Other Sub 2134 A=0.5117 G=0.4883
14KJPN JAPANESE Study-wide 28258 A=0.25264 G=0.74736
Allele Frequency Aggregator Total Global 18890 A=0.47485 G=0.52515
Allele Frequency Aggregator European Sub 14286 A=0.40438 G=0.59562
Allele Frequency Aggregator African Sub 2946 A=0.8456 G=0.1544
Allele Frequency Aggregator Other Sub 692 A=0.503 G=0.497
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.310 G=0.690
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.521 G=0.479
Allele Frequency Aggregator Asian Sub 112 A=0.295 G=0.705
Allele Frequency Aggregator South Asian Sub 98 A=0.57 G=0.43
8.3KJPN JAPANESE Study-wide 16760 A=0.25400 G=0.74600
1000Genomes_30x Global Study-wide 6404 A=0.5448 G=0.4552
1000Genomes_30x African Sub 1786 A=0.9239 G=0.0761
1000Genomes_30x Europe Sub 1266 A=0.3965 G=0.6035
1000Genomes_30x South Asian Sub 1202 A=0.5250 G=0.4750
1000Genomes_30x East Asian Sub 1170 A=0.3026 G=0.6974
1000Genomes_30x American Sub 980 A=0.359 G=0.641
1000Genomes Global Study-wide 5008 A=0.5415 G=0.4585
1000Genomes African Sub 1322 A=0.9168 G=0.0832
1000Genomes East Asian Sub 1008 A=0.3105 G=0.6895
1000Genomes Europe Sub 1006 A=0.4066 G=0.5934
1000Genomes South Asian Sub 978 A=0.536 G=0.464
1000Genomes American Sub 694 A=0.366 G=0.634
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3772 G=0.6228
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.4107 G=0.5893
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.4239 G=0.5761
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.2334 C=0.0000, G=0.7666, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.2364 G=0.7636
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.415 G=0.585
Northern Sweden ACPOP Study-wide 600 A=0.418 G=0.582
SGDP_PRJ Global Study-wide 386 A=0.293 G=0.707
Qatari Global Study-wide 216 A=0.616 G=0.384
Siberian Global Study-wide 50 A=0.30 G=0.70
The Danish reference pan genome Danish Study-wide 40 A=0.40 G=0.60
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.26191226A>C
GRCh38.p14 chr 13 NC_000013.11:g.26191226A>G
GRCh38.p14 chr 13 NC_000013.11:g.26191226A>T
GRCh37.p13 chr 13 NC_000013.10:g.26765363A>C
GRCh37.p13 chr 13 NC_000013.10:g.26765363A>G
GRCh37.p13 chr 13 NC_000013.10:g.26765363A>T
RNF6 RefSeqGene NG_017042.2:g.36146T>G
RNF6 RefSeqGene NG_017042.2:g.36146T>C
RNF6 RefSeqGene NG_017042.2:g.36146T>A
Gene: RNF6, ring finger protein 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RNF6 transcript variant 2 NM_183045.1:c.408+24248T>G 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.408+2424…

XM_011535178.3:c.408+24248T>G

 		N/A Intron Variant
RNF6 transcript variant X14 XM_047430498.1:c.408+2424…

XM_047430498.1:c.408+24248T>G

 		N/A Intron Variant
RNF6 transcript variant X15 XM_047430499.1:c.408+2424…

XM_047430499.1:c.408+24248T>G

 		N/A Intron Variant
RNF6 transcript variant X16 XM_047430500.1:c.408+2424…

XM_047430500.1:c.408+24248T>G

 		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= C G T
GRCh38.p14 chr 13 NC_000013.11:g.26191226= NC_000013.11:g.26191226A>C NC_000013.11:g.26191226A>G NC_000013.11:g.26191226A>T
GRCh37.p13 chr 13 NC_000013.10:g.26765363= NC_000013.10:g.26765363A>C NC_000013.10:g.26765363A>G NC_000013.10:g.26765363A>T
RNF6 RefSeqGene NG_017042.2:g.36146= NG_017042.2:g.36146T>G NG_017042.2:g.36146T>C NG_017042.2:g.36146T>A
RNF6 transcript variant 2 NM_183045.1:c.408+24248= NM_183045.1:c.408+24248T>G NM_183045.1:c.408+24248T>C NM_183045.1:c.408+24248T>A
RNF6 transcript variant X13 XM_011535178.3:c.408+24248= XM_011535178.3:c.408+24248T>G XM_011535178.3:c.408+24248T>C XM_011535178.3:c.408+24248T>A
RNF6 transcript variant X14 XM_047430498.1:c.408+24248= XM_047430498.1:c.408+24248T>G XM_047430498.1:c.408+24248T>C XM_047430498.1:c.408+24248T>A
RNF6 transcript variant X15 XM_047430499.1:c.408+24248= XM_047430499.1:c.408+24248T>G XM_047430499.1:c.408+24248T>C XM_047430499.1:c.408+24248T>A
RNF6 transcript variant X16 XM_047430500.1:c.408+24248= XM_047430500.1:c.408+24248T>G XM_047430500.1:c.408+24248T>C XM_047430500.1:c.408+24248T>A
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#.

71 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6581526 Feb 20, 2003 (111)
2 SC_SNP ss13170009 Dec 05, 2003 (123)
3 SSAHASNP ss21079722 Apr 05, 2004 (121)
4 ABI ss43454023 Mar 13, 2006 (126)
5 HGSV ss77150370 Dec 06, 2007 (129)
6 BCMHGSC_JDW ss89546428 Mar 24, 2008 (129)
7 HUMANGENOME_JCVI ss97143905 Feb 06, 2009 (130)
8 BGI ss106320996 Feb 06, 2009 (130)
9 1000GENOMES ss112629882 Jan 25, 2009 (130)
10 ENSEMBL ss133494030 Dec 01, 2009 (131)
11 ENSEMBL ss137280076 Dec 01, 2009 (131)
12 GMI ss154556546 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss167747332 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss170902439 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss208539666 Jul 04, 2010 (132)
16 1000GENOMES ss226088343 Jul 14, 2010 (132)
17 1000GENOMES ss236182397 Jul 15, 2010 (132)
18 1000GENOMES ss242692139 Jul 15, 2010 (132)
19 BL ss254867712 May 09, 2011 (134)
20 GMI ss281645826 May 04, 2012 (137)
21 GMI ss286671504 Apr 25, 2013 (138)
22 TISHKOFF ss563559410 Apr 25, 2013 (138)
23 SSMP ss659154833 Apr 25, 2013 (138)
24 EVA-GONL ss990208238 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1078948666 Aug 21, 2014 (142)
26 1000GENOMES ss1347548006 Aug 21, 2014 (142)
27 DDI ss1427134055 Apr 01, 2015 (144)
28 EVA_GENOME_DK ss1576682094 Apr 01, 2015 (144)
29 EVA_UK10K_ALSPAC ss1629917577 Apr 01, 2015 (144)
30 EVA_DECODE ss1642313019 Apr 01, 2015 (144)
31 EVA_UK10K_TWINSUK ss1672911610 Apr 01, 2015 (144)
32 HAMMER_LAB ss1807532409 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1933577027 Feb 12, 2016 (147)
34 GENOMED ss1967738466 Jul 19, 2016 (147)
35 JJLAB ss2027543556 Sep 14, 2016 (149)
36 USC_VALOUEV ss2155907666 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2194954839 Dec 20, 2016 (150)
38 SYSTEMSBIOZJU ss2628259644 Nov 08, 2017 (151)
39 GRF ss2700279930 Nov 08, 2017 (151)
40 SWEGEN ss3010744069 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3027586671 Nov 08, 2017 (151)
42 CSHL ss3350372477 Nov 08, 2017 (151)
43 URBANLAB ss3649991671 Oct 12, 2018 (152)
44 EGCUT_WGS ss3678005167 Jul 13, 2019 (153)
45 EVA_DECODE ss3694953821 Jul 13, 2019 (153)
46 ACPOP ss3739595368 Jul 13, 2019 (153)
47 EVA ss3751252993 Jul 13, 2019 (153)
48 PACBIO ss3787408683 Jul 13, 2019 (153)
49 PACBIO ss3792482094 Jul 13, 2019 (153)
50 PACBIO ss3797365819 Jul 13, 2019 (153)
51 KHV_HUMAN_GENOMES ss3816584219 Jul 13, 2019 (153)
52 EVA ss3833456314 Apr 27, 2020 (154)
53 EVA ss3840304572 Apr 27, 2020 (154)
54 EVA ss3845789165 Apr 27, 2020 (154)
55 SGDP_PRJ ss3879622522 Apr 27, 2020 (154)
56 KRGDB ss3928441737 Apr 27, 2020 (154)
57 KOGIC ss3973232649 Apr 27, 2020 (154)
58 GNOMAD ss4262951840 Apr 26, 2021 (155)
59 TOPMED ss4940389311 Apr 26, 2021 (155)
60 TOMMO_GENOMICS ss5209237631 Apr 26, 2021 (155)
61 1000G_HIGH_COVERAGE ss5293144663 Oct 16, 2022 (156)
62 EVA ss5409691522 Oct 16, 2022 (156)
63 HUGCELL_USP ss5487565836 Oct 16, 2022 (156)
64 1000G_HIGH_COVERAGE ss5591800646 Oct 16, 2022 (156)
65 SANFORD_IMAGENETICS ss5654429777 Oct 16, 2022 (156)
66 TOMMO_GENOMICS ss5760895639 Oct 16, 2022 (156)
67 YY_MCH ss5813963051 Oct 16, 2022 (156)
68 EVA ss5839241175 Oct 16, 2022 (156)
69 EVA ss5850654134 Oct 16, 2022 (156)
70 EVA ss5924423672 Oct 16, 2022 (156)
71 EVA ss5945834330 Oct 16, 2022 (156)
72 1000Genomes NC_000013.10 - 26765363 Oct 12, 2018 (152)
73 1000Genomes_30x NC_000013.11 - 26191226 Oct 16, 2022 (156)
74 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 26765363 Oct 12, 2018 (152)
75 Genetic variation in the Estonian population NC_000013.10 - 26765363 Oct 12, 2018 (152)
76 The Danish reference pan genome NC_000013.10 - 26765363 Apr 27, 2020 (154)
77 gnomAD - Genomes NC_000013.11 - 26191226 Apr 26, 2021 (155)
78 Genome of the Netherlands Release 5 NC_000013.10 - 26765363 Apr 27, 2020 (154)
79 KOREAN population from KRGDB NC_000013.10 - 26765363 Apr 27, 2020 (154)
80 Korean Genome Project NC_000013.11 - 26191226 Apr 27, 2020 (154)
81 Northern Sweden NC_000013.10 - 26765363 Jul 13, 2019 (153)
82 Qatari NC_000013.10 - 26765363 Apr 27, 2020 (154)
83 SGDP_PRJ NC_000013.10 - 26765363 Apr 27, 2020 (154)
84 Siberian NC_000013.10 - 26765363 Apr 27, 2020 (154)
85 8.3KJPN NC_000013.10 - 26765363 Apr 26, 2021 (155)
86 14KJPN NC_000013.11 - 26191226 Oct 16, 2022 (156)
87 TopMed NC_000013.11 - 26191226 Apr 26, 2021 (155)
88 UK 10K study - Twins NC_000013.10 - 26765363 Oct 12, 2018 (152)
89 ALFA NC_000013.11 - 26191226 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)
rs9512147 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
35619131, ss3928441737 NC_000013.10:26765362:A:C NC_000013.11:26191225:A:C (self)
ss77150370, ss89546428, ss112629882, ss167747332, ss170902439, ss208539666, ss254867712, ss281645826, ss286671504, ss1642313019 NC_000013.9:25663362:A:G NC_000013.11:26191225:A:G (self)
60393560, 33540021, 23743415, 3226141, 14965288, 35619131, 12880233, 15618957, 31639502, 8424020, 67206938, 33540021, ss226088343, ss236182397, ss242692139, ss563559410, ss659154833, ss990208238, ss1078948666, ss1347548006, ss1427134055, ss1576682094, ss1629917577, ss1672911610, ss1807532409, ss1933577027, ss1967738466, ss2027543556, ss2155907666, ss2628259644, ss2700279930, ss3010744069, ss3350372477, ss3678005167, ss3739595368, ss3751252993, ss3787408683, ss3792482094, ss3797365819, ss3833456314, ss3840304572, ss3879622522, ss3928441737, ss5209237631, ss5409691522, ss5654429777, ss5839241175, ss5945834330 NC_000013.10:26765362:A:G NC_000013.11:26191225:A:G (self)
79326581, 425877080, 29610650, 94732743, 155934969, 5991027990, ss2194954839, ss3027586671, ss3649991671, ss3694953821, ss3816584219, ss3845789165, ss3973232649, ss4262951840, ss4940389311, ss5293144663, ss5487565836, ss5591800646, ss5760895639, ss5813963051, ss5850654134, ss5924423672 NC_000013.11:26191225:A:G NC_000013.11:26191225:A:G (self)
ss13170009 NT_009799.12:7745362:A:G NC_000013.11:26191225:A:G (self)
ss21079722 NT_024524.13:7745362:A:G NC_000013.11:26191225:A:G (self)
ss6581526, ss43454023, ss97143905, ss106320996, ss133494030, ss137280076, ss154556546 NT_024524.14:7745362:A:G NC_000013.11:26191225:A:G (self)
35619131, ss3928441737 NC_000013.10:26765362:A:T NC_000013.11:26191225: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 rs4770952

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