Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs74779096

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:42734635 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.081204 (21494/264690, TOPMED)
A=0.067796 (9500/140126, GnomAD)
A=0.02548 (810/31788, ALFA) (+ 16 more)
A=0.27925 (7891/28258, 14KJPN)
A=0.27643 (4633/16760, 8.3KJPN)
A=0.0995 (637/6404, 1000G_30x)
A=0.1018 (510/5008, 1000G)
A=0.0163 (73/4480, Estonian)
A=0.0205 (79/3854, ALSPAC)
A=0.0178 (66/3708, TWINSUK)
A=0.2823 (827/2930, KOREAN)
A=0.023 (23/998, GoNL)
A=0.057 (34/600, NorthernSweden)
A=0.019 (4/216, Qatari)
A=0.299 (64/214, Vietnamese)
G=0.45 (45/100, SGDP_PRJ)
A=0.03 (1/40, GENOME_DK)
G=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)
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 31788 G=0.97452 A=0.02548, T=0.00000
European Sub 24472 G=0.98746 A=0.01254, T=0.00000
African Sub 5272 G=0.9164 A=0.0836, T=0.0000
African Others Sub 180 G=0.889 A=0.111, T=0.000
African American Sub 5092 G=0.9173 A=0.0827, T=0.0000
Asian Sub 94 G=0.97 A=0.03, T=0.00
East Asian Sub 74 G=0.96 A=0.04, T=0.00
Other Asian Sub 20 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 152 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 530 G=0.977 A=0.023, T=0.000
South Asian Sub 114 G=1.000 A=0.000, T=0.000
Other Sub 1154 G=0.9593 A=0.0407, T=0.0000


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 G=0.918796 A=0.081204
gnomAD - Genomes Global Study-wide 140126 G=0.932204 A=0.067796
gnomAD - Genomes European Sub 75926 G=0.97853 A=0.02147
gnomAD - Genomes African Sub 41974 G=0.88155 A=0.11845
gnomAD - Genomes American Sub 13622 G=0.85678 A=0.14322
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9874 A=0.0126
gnomAD - Genomes East Asian Sub 3128 G=0.7567 A=0.2433
gnomAD - Genomes Other Sub 2152 G=0.9331 A=0.0669
Allele Frequency Aggregator Total Global 31788 G=0.97452 A=0.02548, T=0.00000
Allele Frequency Aggregator European Sub 24472 G=0.98746 A=0.01254, T=0.00000
Allele Frequency Aggregator African Sub 5272 G=0.9164 A=0.0836, T=0.0000
Allele Frequency Aggregator Other Sub 1154 G=0.9593 A=0.0407, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 530 G=0.977 A=0.023, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 152 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 114 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 94 G=0.97 A=0.03, T=0.00
14KJPN JAPANESE Study-wide 28258 G=0.72075 A=0.27925
8.3KJPN JAPANESE Study-wide 16760 G=0.72357 A=0.27643
1000Genomes_30x Global Study-wide 6404 G=0.9005 A=0.0995
1000Genomes_30x African Sub 1786 G=0.8779 A=0.1221
1000Genomes_30x Europe Sub 1266 G=0.9858 A=0.0142
1000Genomes_30x South Asian Sub 1202 G=0.9892 A=0.0108
1000Genomes_30x East Asian Sub 1170 G=0.7692 A=0.2308
1000Genomes_30x American Sub 980 G=0.880 A=0.120
1000Genomes Global Study-wide 5008 G=0.8982 A=0.1018
1000Genomes African Sub 1322 G=0.8782 A=0.1218
1000Genomes East Asian Sub 1008 G=0.7629 A=0.2371
1000Genomes Europe Sub 1006 G=0.9871 A=0.0129
1000Genomes South Asian Sub 978 G=0.992 A=0.008
1000Genomes American Sub 694 G=0.872 A=0.128
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9837 A=0.0163
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9795 A=0.0205
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9822 A=0.0178
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7177 A=0.2823, C=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.977 A=0.023
Northern Sweden ACPOP Study-wide 600 G=0.943 A=0.057
Qatari Global Study-wide 216 G=0.981 A=0.019
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.701 A=0.299
SGDP_PRJ Global Study-wide 100 G=0.45 A=0.55
The Danish reference pan genome Danish Study-wide 40 G=0.97 A=0.03
Siberian Global Study-wide 6 G=0.5 A=0.5
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 18 NC_000018.10:g.42734635G>A
GRCh38.p14 chr 18 NC_000018.10:g.42734635G>C
GRCh38.p14 chr 18 NC_000018.10:g.42734635G>T
GRCh37.p13 chr 18 NC_000018.9:g.40314600G>A
GRCh37.p13 chr 18 NC_000018.9:g.40314600G>C
GRCh37.p13 chr 18 NC_000018.9:g.40314600G>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 G= A C T
GRCh38.p14 chr 18 NC_000018.10:g.42734635= NC_000018.10:g.42734635G>A NC_000018.10:g.42734635G>C NC_000018.10:g.42734635G>T
GRCh37.p13 chr 18 NC_000018.9:g.40314600= NC_000018.9:g.40314600G>A NC_000018.9:g.40314600G>C NC_000018.9:g.40314600G>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#.

61 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 GMI ss155096578 Dec 01, 2009 (131)
2 BUSHMAN ss203206098 Jul 04, 2010 (132)
3 1000GENOMES ss211880688 Jul 14, 2010 (132)
4 1000GENOMES ss227839122 Jul 14, 2010 (132)
5 1000GENOMES ss237450492 Jul 15, 2010 (132)
6 1000GENOMES ss243703152 Jul 15, 2010 (132)
7 GMI ss282975879 May 04, 2012 (137)
8 GMI ss287276405 Apr 25, 2013 (138)
9 ILLUMINA ss482166919 May 04, 2012 (137)
10 ILLUMINA ss483725516 May 04, 2012 (137)
11 ILLUMINA ss534528126 Sep 08, 2015 (146)
12 TISHKOFF ss565617991 Apr 25, 2013 (138)
13 SSMP ss661447940 Apr 25, 2013 (138)
14 ILLUMINA ss779962281 Sep 08, 2015 (146)
15 ILLUMINA ss781671206 Sep 08, 2015 (146)
16 ILLUMINA ss835441244 Sep 08, 2015 (146)
17 EVA-GONL ss993688531 Aug 21, 2014 (142)
18 JMKIDD_LAB ss1081471502 Aug 21, 2014 (142)
19 1000GENOMES ss1360879651 Aug 21, 2014 (142)
20 EVA_GENOME_DK ss1578387148 Apr 01, 2015 (144)
21 EVA_UK10K_ALSPAC ss1636792492 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1679786525 Apr 01, 2015 (144)
23 EVA_DECODE ss1697745081 Apr 01, 2015 (144)
24 HAMMER_LAB ss1809034832 Sep 08, 2015 (146)
25 WEILL_CORNELL_DGM ss1937157301 Feb 12, 2016 (147)
26 GENOMED ss1968514768 Jul 19, 2016 (147)
27 JJLAB ss2029347902 Sep 14, 2016 (149)
28 USC_VALOUEV ss2157852341 Dec 20, 2016 (150)
29 HUMAN_LONGEVITY ss2221269037 Dec 20, 2016 (150)
30 SYSTEMSBIOZJU ss2629172151 Nov 08, 2017 (151)
31 ILLUMINA ss2633468246 Nov 08, 2017 (151)
32 GRF ss2702438318 Nov 08, 2017 (151)
33 GNOMAD ss2956279232 Nov 08, 2017 (151)
34 SWEGEN ss3016467519 Nov 08, 2017 (151)
35 CSHL ss3352005952 Nov 08, 2017 (151)
36 ILLUMINA ss3627800325 Oct 12, 2018 (152)
37 ILLUMINA ss3631445054 Oct 12, 2018 (152)
38 ILLUMINA ss3642025704 Oct 12, 2018 (152)
39 EGCUT_WGS ss3683306073 Jul 13, 2019 (153)
40 EVA_DECODE ss3701586993 Jul 13, 2019 (153)
41 ACPOP ss3742511493 Jul 13, 2019 (153)
42 EVA ss3755342312 Jul 13, 2019 (153)
43 KHV_HUMAN_GENOMES ss3820607428 Jul 13, 2019 (153)
44 EVA ss3835150790 Apr 27, 2020 (154)
45 SGDP_PRJ ss3886944441 Apr 27, 2020 (154)
46 KRGDB ss3936806374 Apr 27, 2020 (154)
47 TOPMED ss5055415513 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5225008645 Apr 26, 2021 (155)
49 1000G_HIGH_COVERAGE ss5305168616 Oct 16, 2022 (156)
50 EVA ss5315930147 Oct 16, 2022 (156)
51 EVA ss5431189063 Oct 16, 2022 (156)
52 HUGCELL_USP ss5497951987 Oct 16, 2022 (156)
53 EVA ss5511924940 Oct 16, 2022 (156)
54 1000G_HIGH_COVERAGE ss5609945121 Oct 16, 2022 (156)
55 SANFORD_IMAGENETICS ss5661224683 Oct 16, 2022 (156)
56 TOMMO_GENOMICS ss5782753539 Oct 16, 2022 (156)
57 YY_MCH ss5817065187 Oct 16, 2022 (156)
58 EVA ss5827493761 Oct 16, 2022 (156)
59 EVA ss5852037564 Oct 16, 2022 (156)
60 EVA ss5873936112 Oct 16, 2022 (156)
61 EVA ss5952633950 Oct 16, 2022 (156)
62 1000Genomes NC_000018.9 - 40314600 Oct 12, 2018 (152)
63 1000Genomes_30x NC_000018.10 - 42734635 Oct 16, 2022 (156)
64 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 40314600 Oct 12, 2018 (152)
65 Genetic variation in the Estonian population NC_000018.9 - 40314600 Oct 12, 2018 (152)
66 The Danish reference pan genome NC_000018.9 - 40314600 Apr 27, 2020 (154)
67 gnomAD - Genomes NC_000018.10 - 42734635 Apr 26, 2021 (155)
68 Genome of the Netherlands Release 5 NC_000018.9 - 40314600 Apr 27, 2020 (154)
69 KOREAN population from KRGDB NC_000018.9 - 40314600 Apr 27, 2020 (154)
70 Northern Sweden NC_000018.9 - 40314600 Jul 13, 2019 (153)
71 Qatari NC_000018.9 - 40314600 Apr 27, 2020 (154)
72 SGDP_PRJ NC_000018.9 - 40314600 Apr 27, 2020 (154)
73 Siberian NC_000018.9 - 40314600 Apr 27, 2020 (154)
74 8.3KJPN NC_000018.9 - 40314600 Apr 26, 2021 (155)
75 14KJPN NC_000018.10 - 42734635 Oct 16, 2022 (156)
76 TopMed NC_000018.10 - 42734635 Apr 26, 2021 (155)
77 UK 10K study - Twins NC_000018.9 - 40314600 Oct 12, 2018 (152)
78 A Vietnamese Genetic Variation Database NC_000018.9 - 40314600 Jul 13, 2019 (153)
79 ALFA NC_000018.10 - 42734635 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
ss203206098, ss211880688, ss282975879, ss287276405, ss483725516, ss1697745081 NC_000018.8:38568597:G:A NC_000018.10:42734634:G:A (self)
74204044, 41108485, 29044321, 4579859, 18316922, 43983768, 15796358, 19199223, 38961421, 10368695, 82977952, 41108485, 9083392, ss227839122, ss237450492, ss243703152, ss482166919, ss534528126, ss565617991, ss661447940, ss779962281, ss781671206, ss835441244, ss993688531, ss1081471502, ss1360879651, ss1578387148, ss1636792492, ss1679786525, ss1809034832, ss1937157301, ss1968514768, ss2029347902, ss2157852341, ss2629172151, ss2633468246, ss2702438318, ss2956279232, ss3016467519, ss3352005952, ss3627800325, ss3631445054, ss3642025704, ss3683306073, ss3742511493, ss3755342312, ss3835150790, ss3886944441, ss3936806374, ss5225008645, ss5315930147, ss5431189063, ss5511924940, ss5661224683, ss5827493761, ss5952633950 NC_000018.9:40314599:G:A NC_000018.10:42734634:G:A (self)
97471056, 523492933, 116590643, 270961176, 10288957310, ss2221269037, ss3701586993, ss3820607428, ss5055415513, ss5305168616, ss5497951987, ss5609945121, ss5782753539, ss5817065187, ss5852037564, ss5873936112 NC_000018.10:42734634:G:A NC_000018.10:42734634:G:A (self)
ss155096578 NT_010966.14:21803701:G:A NC_000018.10:42734634:G:A (self)
43983768, ss3936806374 NC_000018.9:40314599:G:C NC_000018.10:42734634:G:C (self)
10288957310 NC_000018.10:42734634:G:T NC_000018.10:42734634:G: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 rs74779096

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