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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.

rs4769618

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:28588804 (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
A=0.261215 (69141/264690, TOPMED)
A=0.265067 (37111/140006, GnomAD)
G=0.49413 (13963/28258, 14KJPN) (+ 17 more)
A=0.28670 (5090/17754, ALFA)
G=0.49147 (8237/16760, 8.3KJPN)
A=0.3082 (1974/6404, 1000G_30x)
A=0.3181 (1593/5008, 1000G)
A=0.3304 (1480/4480, Estonian)
A=0.2574 (992/3854, ALSPAC)
A=0.2799 (1038/3708, TWINSUK)
G=0.4966 (1454/2928, KOREAN)
G=0.4880 (894/1832, Korea1K)
A=0.269 (268/998, GoNL)
A=0.292 (175/600, NorthernSweden)
A=0.234 (111/474, SGDP_PRJ)
A=0.291 (96/330, HapMap)
A=0.245 (53/216, Qatari)
G=0.425 (90/212, Vietnamese)
A=0.33 (15/46, Siberian)
A=0.40 (16/40, 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 17754 A=0.28670 G=0.71330, T=0.00000
European Sub 13660 A=0.29722 G=0.70278, T=0.00000
African Sub 2440 A=0.2033 G=0.7967, T=0.0000
African Others Sub 90 A=0.20 G=0.80, T=0.00
African American Sub 2350 A=0.2034 G=0.7966, T=0.0000
Asian Sub 112 A=0.518 G=0.482, T=0.000
East Asian Sub 86 A=0.55 G=0.45, T=0.00
Other Asian Sub 26 A=0.42 G=0.58, T=0.00
Latin American 1 Sub 146 A=0.240 G=0.760, T=0.000
Latin American 2 Sub 610 A=0.351 G=0.649, T=0.000
South Asian Sub 98 A=0.37 G=0.63, T=0.00
Other Sub 688 A=0.278 G=0.722, T=0.000


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=0.261215 G=0.738785
gnomAD - Genomes Global Study-wide 140006 A=0.265067 G=0.734933
gnomAD - Genomes European Sub 75814 A=0.29314 G=0.70686
gnomAD - Genomes African Sub 41954 A=0.18856 G=0.81144
gnomAD - Genomes American Sub 13640 A=0.29655 G=0.70345
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.2289 G=0.7711
gnomAD - Genomes East Asian Sub 3122 A=0.5083 G=0.4917
gnomAD - Genomes Other Sub 2152 A=0.2709 G=0.7291
14KJPN JAPANESE Study-wide 28258 A=0.50587 G=0.49413
Allele Frequency Aggregator Total Global 17754 A=0.28670 G=0.71330, T=0.00000
Allele Frequency Aggregator European Sub 13660 A=0.29722 G=0.70278, T=0.00000
Allele Frequency Aggregator African Sub 2440 A=0.2033 G=0.7967, T=0.0000
Allele Frequency Aggregator Other Sub 688 A=0.278 G=0.722, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.351 G=0.649, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.240 G=0.760, T=0.000
Allele Frequency Aggregator Asian Sub 112 A=0.518 G=0.482, T=0.000
Allele Frequency Aggregator South Asian Sub 98 A=0.37 G=0.63, T=0.00
8.3KJPN JAPANESE Study-wide 16760 A=0.50853 G=0.49147
1000Genomes_30x Global Study-wide 6404 A=0.3082 G=0.6918
1000Genomes_30x African Sub 1786 A=0.1814 G=0.8186
1000Genomes_30x Europe Sub 1266 A=0.2654 G=0.7346
1000Genomes_30x South Asian Sub 1202 A=0.3220 G=0.6780
1000Genomes_30x East Asian Sub 1170 A=0.5043 G=0.4957
1000Genomes_30x American Sub 980 A=0.344 G=0.656
1000Genomes Global Study-wide 5008 A=0.3181 G=0.6819
1000Genomes African Sub 1322 A=0.1906 G=0.8094
1000Genomes East Asian Sub 1008 A=0.5099 G=0.4901
1000Genomes Europe Sub 1006 A=0.2753 G=0.7247
1000Genomes South Asian Sub 978 A=0.322 G=0.678
1000Genomes American Sub 694 A=0.339 G=0.661
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3304 G=0.6696
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2574 G=0.7426
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2799 G=0.7201
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.5034 C=0.0000, G=0.4966
Korean Genome Project KOREAN Study-wide 1832 A=0.5120 G=0.4880
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.269 G=0.731
Northern Sweden ACPOP Study-wide 600 A=0.292 G=0.708
SGDP_PRJ Global Study-wide 474 A=0.234 G=0.766
HapMap Global Study-wide 330 A=0.291 G=0.709
HapMap African Sub 120 A=0.142 G=0.858
HapMap American Sub 120 A=0.233 G=0.767
HapMap Asian Sub 90 A=0.57 G=0.43
Qatari Global Study-wide 216 A=0.245 G=0.755
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.575 G=0.425
Siberian Global Study-wide 46 A=0.33 G=0.67
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.28588804A>C
GRCh38.p14 chr 13 NC_000013.11:g.28588804A>G
GRCh38.p14 chr 13 NC_000013.11:g.28588804A>T
GRCh37.p13 chr 13 NC_000013.10:g.29162941A>C
GRCh37.p13 chr 13 NC_000013.10:g.29162941A>G
GRCh37.p13 chr 13 NC_000013.10:g.29162941A>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= C G T
GRCh38.p14 chr 13 NC_000013.11:g.28588804= NC_000013.11:g.28588804A>C NC_000013.11:g.28588804A>G NC_000013.11:g.28588804A>T
GRCh37.p13 chr 13 NC_000013.10:g.29162941= NC_000013.10:g.29162941A>C NC_000013.10:g.29162941A>G NC_000013.10:g.29162941A>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#.

75 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6579589 Feb 20, 2003 (111)
2 BCM_SSAHASNP ss11075514 Jul 11, 2003 (116)
3 SC_SNP ss13254270 Dec 05, 2003 (119)
4 CSHL-HAPMAP ss19271735 Feb 27, 2004 (120)
5 SSAHASNP ss21124197 Apr 05, 2004 (121)
6 HGSV ss77453940 Dec 07, 2007 (129)
7 HGSV ss78938786 Dec 07, 2007 (129)
8 BCMHGSC_JDW ss89558540 Mar 24, 2008 (129)
9 HUMANGENOME_JCVI ss96954682 Feb 06, 2009 (130)
10 BGI ss103106474 Dec 01, 2009 (131)
11 1000GENOMES ss112647004 Jan 25, 2009 (130)
12 1000GENOMES ss114466337 Jan 25, 2009 (130)
13 ILLUMINA-UK ss118401509 Feb 14, 2009 (130)
14 ENSEMBL ss133504176 Dec 01, 2009 (131)
15 ENSEMBL ss137274137 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss167790556 Jul 04, 2010 (132)
17 BUSHMAN ss199012805 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss208697183 Jul 04, 2010 (132)
19 1000GENOMES ss226099076 Jul 14, 2010 (132)
20 1000GENOMES ss236190417 Jul 15, 2010 (132)
21 1000GENOMES ss242697942 Jul 15, 2010 (132)
22 BL ss254884957 May 09, 2011 (134)
23 GMI ss281652917 May 04, 2012 (137)
24 GMI ss286675233 Apr 25, 2013 (138)
25 PJP ss291564749 May 09, 2011 (134)
26 TISHKOFF ss563571399 Apr 25, 2013 (138)
27 SSMP ss659167177 Apr 25, 2013 (138)
28 EVA-GONL ss990228112 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1078963468 Aug 21, 2014 (142)
30 1000GENOMES ss1347618705 Aug 21, 2014 (142)
31 DDI ss1427140385 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1576694793 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1629956615 Apr 01, 2015 (144)
34 EVA_DECODE ss1642332687 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1672950648 Apr 01, 2015 (144)
36 HAMMER_LAB ss1807541616 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1933597089 Feb 12, 2016 (147)
38 GENOMED ss1967743280 Jul 19, 2016 (147)
39 JJLAB ss2027554169 Sep 14, 2016 (149)
40 USC_VALOUEV ss2155918904 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2195100661 Dec 20, 2016 (150)
42 SYSTEMSBIOZJU ss2628265209 Nov 08, 2017 (151)
43 GRF ss2700291039 Nov 08, 2017 (151)
44 GNOMAD ss2917941407 Nov 08, 2017 (151)
45 SWEGEN ss3010773947 Nov 08, 2017 (151)
46 BIOINF_KMB_FNS_UNIBA ss3027592605 Nov 08, 2017 (151)
47 CSHL ss3350381811 Nov 08, 2017 (151)
48 URBANLAB ss3649996380 Oct 12, 2018 (152)
49 EGCUT_WGS ss3678034650 Jul 13, 2019 (153)
50 EVA_DECODE ss3694991063 Jul 13, 2019 (153)
51 ACPOP ss3739612237 Jul 13, 2019 (153)
52 EVA ss3751275540 Jul 13, 2019 (153)
53 PACBIO ss3787414216 Jul 13, 2019 (153)
54 PACBIO ss3792486896 Jul 13, 2019 (153)
55 PACBIO ss3797370612 Jul 13, 2019 (153)
56 KHV_HUMAN_GENOMES ss3816606551 Jul 13, 2019 (153)
57 EVA ss3833466763 Apr 27, 2020 (154)
58 EVA ss3840310533 Apr 27, 2020 (154)
59 EVA ss3845795273 Apr 27, 2020 (154)
60 SGDP_PRJ ss3879660336 Apr 27, 2020 (154)
61 KRGDB ss3928481714 Apr 27, 2020 (154)
62 KOGIC ss3973267845 Apr 27, 2020 (154)
63 TOPMED ss4940989380 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5209315679 Apr 26, 2021 (155)
65 1000G_HIGH_COVERAGE ss5293207643 Oct 16, 2022 (156)
66 HUGCELL_USP ss5487623868 Oct 16, 2022 (156)
67 EVA ss5510918618 Oct 16, 2022 (156)
68 1000G_HIGH_COVERAGE ss5591891812 Oct 16, 2022 (156)
69 SANFORD_IMAGENETICS ss5654466079 Oct 16, 2022 (156)
70 TOMMO_GENOMICS ss5760996987 Oct 16, 2022 (156)
71 YY_MCH ss5813978673 Oct 16, 2022 (156)
72 EVA ss5839266375 Oct 16, 2022 (156)
73 EVA ss5850661786 Oct 16, 2022 (156)
74 EVA ss5924496274 Oct 16, 2022 (156)
75 EVA ss5945872397 Oct 16, 2022 (156)
76 1000Genomes NC_000013.10 - 29162941 Oct 12, 2018 (152)
77 1000Genomes_30x NC_000013.11 - 28588804 Oct 16, 2022 (156)
78 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29162941 Oct 12, 2018 (152)
79 Genetic variation in the Estonian population NC_000013.10 - 29162941 Oct 12, 2018 (152)
80 The Danish reference pan genome NC_000013.10 - 29162941 Apr 27, 2020 (154)
81 gnomAD - Genomes NC_000013.11 - 28588804 Apr 26, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000013.10 - 29162941 Apr 27, 2020 (154)
83 HapMap NC_000013.11 - 28588804 Apr 27, 2020 (154)
84 KOREAN population from KRGDB NC_000013.10 - 29162941 Apr 27, 2020 (154)
85 Korean Genome Project NC_000013.11 - 28588804 Apr 27, 2020 (154)
86 Northern Sweden NC_000013.10 - 29162941 Jul 13, 2019 (153)
87 Qatari NC_000013.10 - 29162941 Apr 27, 2020 (154)
88 SGDP_PRJ NC_000013.10 - 29162941 Apr 27, 2020 (154)
89 Siberian NC_000013.10 - 29162941 Apr 27, 2020 (154)
90 8.3KJPN NC_000013.10 - 29162941 Apr 26, 2021 (155)
91 14KJPN NC_000013.11 - 28588804 Oct 16, 2022 (156)
92 TopMed NC_000013.11 - 28588804 Apr 26, 2021 (155)
93 UK 10K study - Twins NC_000013.10 - 29162941 Oct 12, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000013.10 - 29162941 Jul 13, 2019 (153)
95 ALFA NC_000013.11 - 28588804 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
35659108, ss3928481714 NC_000013.10:29162940:A:C NC_000013.11:28588803:A:C (self)
ss77453940, ss78938786, ss89558540, ss112647004, ss114466337, ss118401509, ss167790556, ss199012805, ss208697183, ss254884957, ss281652917, ss286675233, ss291564749, ss1642332687 NC_000013.9:28060940:A:G NC_000013.11:28588803:A:G (self)
60467086, 33583400, 23772898, 3234308, 14984598, 35659108, 12897102, 15639019, 31677316, 8435258, 67284986, 33583400, 7449433, ss226099076, ss236190417, ss242697942, ss563571399, ss659167177, ss990228112, ss1078963468, ss1347618705, ss1427140385, ss1576694793, ss1629956615, ss1672950648, ss1807541616, ss1933597089, ss1967743280, ss2027554169, ss2155918904, ss2628265209, ss2700291039, ss2917941407, ss3010773947, ss3350381811, ss3678034650, ss3739612237, ss3751275540, ss3787414216, ss3792486896, ss3797370612, ss3833466763, ss3840310533, ss3879660336, ss3928481714, ss5209315679, ss5510918618, ss5654466079, ss5839266375, ss5945872397 NC_000013.10:29162940:A:G NC_000013.11:28588803:A:G (self)
79417747, 426379463, 955066, 29645846, 94834091, 156535038, 14192965261, ss2195100661, ss3027592605, ss3649996380, ss3694991063, ss3816606551, ss3845795273, ss3973267845, ss4940989380, ss5293207643, ss5487623868, ss5591891812, ss5760996987, ss5813978673, ss5850661786, ss5924496274 NC_000013.11:28588803:A:G NC_000013.11:28588803:A:G (self)
ss11075514, ss13254270 NT_009799.12:10142940:A:G NC_000013.11:28588803:A:G (self)
ss19271735, ss21124197 NT_024524.13:10142940:A:G NC_000013.11:28588803:A:G (self)
ss6579589, ss96954682, ss103106474, ss133504176, ss137274137 NT_024524.14:10142940:A:G NC_000013.11:28588803:A:G (self)
14192965261 NC_000013.11:28588803:A:T NC_000013.11:28588803: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 rs4769618

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