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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.

rs79944421

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:48442770 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.030054 (7955/264690, TOPMED)
A=0.027599 (3867/140112, GnomAD)
A=0.08330 (2354/28258, 14KJPN) (+ 17 more)
A=0.03086 (583/18890, ALFA)
A=0.08228 (1379/16760, 8.3KJPN)
A=0.0587 (376/6404, 1000G_30x)
A=0.0611 (306/5008, 1000G)
A=0.0304 (136/4480, Estonian)
A=0.0244 (94/3854, ALSPAC)
A=0.0251 (93/3708, TWINSUK)
A=0.1099 (322/2930, KOREAN)
A=0.1048 (192/1832, Korea1K)
A=0.017 (17/998, GoNL)
A=0.010 (6/600, NorthernSweden)
A=0.097 (21/216, Qatari)
A=0.075 (16/214, Vietnamese)
G=0.50 (47/94, SGDP_PRJ)
A=0.50 (47/94, SGDP_PRJ)
A=0.05 (2/40, GENOME_DK)
G=0.4 (3/8, 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 18890 G=0.96914 A=0.03086
European Sub 14286 G=0.96829 A=0.03171
African Sub 2946 G=0.9739 A=0.0261
African Others Sub 114 G=0.947 A=0.053
African American Sub 2832 G=0.9749 A=0.0251
Asian Sub 112 G=0.911 A=0.089
East Asian Sub 86 G=0.88 A=0.12
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 146 G=0.966 A=0.034
Latin American 2 Sub 610 G=0.989 A=0.011
South Asian Sub 98 G=0.90 A=0.10
Other Sub 692 G=0.970 A=0.030


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=0.969946 A=0.030054
gnomAD - Genomes Global Study-wide 140112 G=0.972401 A=0.027599
gnomAD - Genomes European Sub 75932 G=0.97381 A=0.02619
gnomAD - Genomes African Sub 41932 G=0.97494 A=0.02506
gnomAD - Genomes American Sub 13652 G=0.98257 A=0.01743
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9491 A=0.0509
gnomAD - Genomes East Asian Sub 3126 G=0.8874 A=0.1126
gnomAD - Genomes Other Sub 2148 G=0.9683 A=0.0317
14KJPN JAPANESE Study-wide 28258 G=0.91670 A=0.08330
Allele Frequency Aggregator Total Global 18890 G=0.96914 A=0.03086
Allele Frequency Aggregator European Sub 14286 G=0.96829 A=0.03171
Allele Frequency Aggregator African Sub 2946 G=0.9739 A=0.0261
Allele Frequency Aggregator Other Sub 692 G=0.970 A=0.030
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.989 A=0.011
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.966 A=0.034
Allele Frequency Aggregator Asian Sub 112 G=0.911 A=0.089
Allele Frequency Aggregator South Asian Sub 98 G=0.90 A=0.10
8.3KJPN JAPANESE Study-wide 16760 G=0.91772 A=0.08228
1000Genomes_30x Global Study-wide 6404 G=0.9413 A=0.0587
1000Genomes_30x African Sub 1786 G=0.9586 A=0.0414
1000Genomes_30x Europe Sub 1266 G=0.9755 A=0.0245
1000Genomes_30x South Asian Sub 1202 G=0.8752 A=0.1248
1000Genomes_30x East Asian Sub 1170 G=0.9111 A=0.0889
1000Genomes_30x American Sub 980 G=0.983 A=0.017
1000Genomes Global Study-wide 5008 G=0.9389 A=0.0611
1000Genomes African Sub 1322 G=0.9561 A=0.0439
1000Genomes East Asian Sub 1008 G=0.9107 A=0.0893
1000Genomes Europe Sub 1006 G=0.9742 A=0.0258
1000Genomes South Asian Sub 978 G=0.875 A=0.125
1000Genomes American Sub 694 G=0.986 A=0.014
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9696 A=0.0304
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9756 A=0.0244
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9749 A=0.0251
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8901 A=0.1099
Korean Genome Project KOREAN Study-wide 1832 G=0.8952 A=0.1048
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.983 A=0.017
Northern Sweden ACPOP Study-wide 600 G=0.990 A=0.010
Qatari Global Study-wide 216 G=0.903 A=0.097
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.925 A=0.075
SGDP_PRJ Global Study-wide 94 G=0.50 A=0.50
The Danish reference pan genome Danish Study-wide 40 G=0.95 A=0.05
Siberian Global Study-wide 8 G=0.4 A=0.6
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.48442770G>A
GRCh37.p13 chr 18 NC_000018.9:g.45969141G>A
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
GRCh38.p14 chr 18 NC_000018.10:g.48442770= NC_000018.10:g.48442770G>A
GRCh37.p13 chr 18 NC_000018.9:g.45969141= NC_000018.9:g.45969141G>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#.

44 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 BUSHMAN ss203249528 Jul 04, 2010 (132)
2 1000GENOMES ss227860180 Jul 14, 2010 (132)
3 1000GENOMES ss243715135 Jul 15, 2010 (132)
4 GMI ss282990183 May 04, 2012 (137)
5 TISHKOFF ss565641421 Apr 25, 2013 (138)
6 SSMP ss661473447 Apr 25, 2013 (138)
7 EVA-GONL ss993730899 Aug 21, 2014 (142)
8 JMKIDD_LAB ss1081501990 Aug 21, 2014 (142)
9 1000GENOMES ss1361041150 Aug 21, 2014 (142)
10 DDI ss1428216152 Apr 01, 2015 (144)
11 EVA_GENOME_DK ss1578403863 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1636881604 Apr 01, 2015 (144)
13 EVA_UK10K_TWINSUK ss1679875637 Apr 01, 2015 (144)
14 EVA_DECODE ss1697789227 Apr 01, 2015 (144)
15 WEILL_CORNELL_DGM ss1937197605 Feb 12, 2016 (147)
16 JJLAB ss2029368318 Sep 14, 2016 (149)
17 USC_VALOUEV ss2157873496 Dec 20, 2016 (150)
18 HUMAN_LONGEVITY ss2221608730 Dec 20, 2016 (150)
19 GRF ss2702461115 Nov 08, 2017 (151)
20 GNOMAD ss2956737967 Nov 08, 2017 (151)
21 SWEGEN ss3016532630 Nov 08, 2017 (151)
22 CSHL ss3352023996 Nov 08, 2017 (151)
23 EGCUT_WGS ss3683374183 Jul 13, 2019 (153)
24 EVA_DECODE ss3701665391 Jul 13, 2019 (153)
25 ACPOP ss3742545048 Jul 13, 2019 (153)
26 EVA ss3755392590 Jul 13, 2019 (153)
27 KHV_HUMAN_GENOMES ss3820653907 Jul 13, 2019 (153)
28 EVA ss3835170130 Apr 27, 2020 (154)
29 SGDP_PRJ ss3887026005 Apr 27, 2020 (154)
30 KRGDB ss3936897258 Apr 27, 2020 (154)
31 KOGIC ss3980158852 Apr 27, 2020 (154)
32 TOPMED ss5056865202 Apr 27, 2021 (155)
33 TOMMO_GENOMICS ss5225187432 Apr 27, 2021 (155)
34 1000G_HIGH_COVERAGE ss5305306843 Oct 16, 2022 (156)
35 EVA ss5431449803 Oct 16, 2022 (156)
36 HUGCELL_USP ss5498075804 Oct 16, 2022 (156)
37 EVA ss5511939281 Oct 16, 2022 (156)
38 1000G_HIGH_COVERAGE ss5610157830 Oct 16, 2022 (156)
39 SANFORD_IMAGENETICS ss5661302304 Oct 16, 2022 (156)
40 TOMMO_GENOMICS ss5782983998 Oct 16, 2022 (156)
41 YY_MCH ss5817098792 Oct 16, 2022 (156)
42 EVA ss5827548135 Oct 16, 2022 (156)
43 EVA ss5874099223 Oct 16, 2022 (156)
44 EVA ss5952718184 Oct 16, 2022 (156)
45 1000Genomes NC_000018.9 - 45969141 Oct 12, 2018 (152)
46 1000Genomes_30x NC_000018.10 - 48442770 Oct 16, 2022 (156)
47 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 45969141 Oct 12, 2018 (152)
48 Genetic variation in the Estonian population NC_000018.9 - 45969141 Oct 12, 2018 (152)
49 The Danish reference pan genome NC_000018.9 - 45969141 Apr 27, 2020 (154)
50 gnomAD - Genomes NC_000018.10 - 48442770 Apr 27, 2021 (155)
51 Genome of the Netherlands Release 5 NC_000018.9 - 45969141 Apr 27, 2020 (154)
52 KOREAN population from KRGDB NC_000018.9 - 45969141 Apr 27, 2020 (154)
53 Korean Genome Project NC_000018.10 - 48442770 Apr 27, 2020 (154)
54 Northern Sweden NC_000018.9 - 45969141 Jul 13, 2019 (153)
55 Qatari NC_000018.9 - 45969141 Apr 27, 2020 (154)
56 SGDP_PRJ NC_000018.9 - 45969141 Apr 27, 2020 (154)
57 Siberian NC_000018.9 - 45969141 Apr 27, 2020 (154)
58 8.3KJPN NC_000018.9 - 45969141 Apr 27, 2021 (155)
59 14KJPN NC_000018.10 - 48442770 Oct 16, 2022 (156)
60 TopMed NC_000018.10 - 48442770 Apr 27, 2021 (155)
61 UK 10K study - Twins NC_000018.9 - 45969141 Oct 12, 2018 (152)
62 A Vietnamese Genetic Variation Database NC_000018.9 - 45969141 Jul 13, 2019 (153)
63 ALFA NC_000018.10 - 48442770 Apr 27, 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
ss203249528, ss282990183, ss1697789227 NC_000018.8:44223138:G:A NC_000018.10:48442769:G:A (self)
74370867, 41205673, 29112431, 4595885, 18358560, 44074652, 15829913, 19239527, 39042985, 10389850, 83156739, 41205673, 9103645, ss227860180, ss243715135, ss565641421, ss661473447, ss993730899, ss1081501990, ss1361041150, ss1428216152, ss1578403863, ss1636881604, ss1679875637, ss1937197605, ss2029368318, ss2157873496, ss2702461115, ss2956737967, ss3016532630, ss3352023996, ss3683374183, ss3742545048, ss3755392590, ss3835170130, ss3887026005, ss3936897258, ss5225187432, ss5431449803, ss5511939281, ss5661302304, ss5827548135, ss5952718184 NC_000018.9:45969140:G:A NC_000018.10:48442769:G:A (self)
97683765, 524669045, 36536853, 116821102, 272410865, 4317540459, ss2221608730, ss3701665391, ss3820653907, ss3980158852, ss5056865202, ss5305306843, ss5498075804, ss5610157830, ss5782983998, ss5817098792, ss5874099223 NC_000018.10:48442769:G:A NC_000018.10:48442769:G:A (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 rs79944421

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