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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.

rs147837354

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:24339459 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000298 (79/264690, TOPMED)
A=0.000060 (15/251204, GnomAD_exome)
A=0.000017 (3/177548, ALFA) (+ 7 more)
A=0.000356 (50/140264, GnomAD)
A=0.000099 (12/121364, ExAC)
A=0.00037 (29/78698, PAGE_STUDY)
A=0.00031 (4/13006, GO-ESP)
A=0.0002 (1/6404, 1000G_30x)
A=0.0002 (1/5008, 1000G)
T=0.0011 (2/1830, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RIPK3 : Missense 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 193838 G=0.999964 A=0.000036
European Sub 162974 G=1.000000 A=0.000000
African Sub 9724 G=0.9993 A=0.0007
African Others Sub 360 G=1.000 A=0.000
African American Sub 9364 G=0.9993 A=0.0007
Asian Sub 6346 G=1.0000 A=0.0000
East Asian Sub 4498 G=1.0000 A=0.0000
Other Asian Sub 1848 G=1.0000 A=0.0000
Latin American 1 Sub 442 G=1.000 A=0.000
Latin American 2 Sub 950 G=1.000 A=0.000
South Asian Sub 280 G=1.000 A=0.000
Other Sub 13122 G=1.00000 A=0.00000


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=0.999702 A=0.000298
gnomAD - Exomes Global Study-wide 251204 G=0.999940 A=0.000060
gnomAD - Exomes European Sub 135154 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49006 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34582 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16254 G=0.99908 A=0.00092
gnomAD - Exomes Ashkenazi Jewish Sub 10074 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6134 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 177548 G=0.999983 A=0.000017
Allele Frequency Aggregator European Sub 152932 G=1.000000 A=0.000000
Allele Frequency Aggregator Other Sub 11712 G=1.00000 A=0.00000
Allele Frequency Aggregator Asian Sub 6346 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 4886 G=0.9994 A=0.0006
Allele Frequency Aggregator Latin American 2 Sub 950 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 442 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 280 G=1.000 A=0.000
gnomAD - Genomes Global Study-wide 140264 G=0.999644 A=0.000356
gnomAD - Genomes European Sub 75948 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42044 G=0.99881 A=0.00119
gnomAD - Genomes American Sub 13660 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=1.0000 A=0.0000
ExAC Global Study-wide 121364 G=0.999901 A=0.000099
ExAC Europe Sub 73314 G=1.00000 A=0.00000
ExAC Asian Sub 25166 G=1.00000 A=0.00000
ExAC American Sub 11578 G=1.00000 A=0.00000
ExAC African Sub 10398 G=0.99885 A=0.00115
ExAC Other Sub 908 G=1.000 A=0.000
The PAGE Study Global Study-wide 78698 G=0.99963 A=0.00037
The PAGE Study AfricanAmerican Sub 32516 G=0.99923 A=0.00077
The PAGE Study Mexican Sub 10810 G=0.99991 A=0.00009
The PAGE Study Asian Sub 8316 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=0.9999 A=0.0001
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3826 G=0.9997 A=0.0003
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=0.9992 A=0.0008
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.99969 A=0.00031
GO Exome Sequencing Project European American Sub 8600 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4406 G=0.9991 A=0.0009
1000Genomes_30x Global Study-wide 6404 G=0.9998 A=0.0002
1000Genomes_30x African Sub 1786 G=0.9994 A=0.0006
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9998 A=0.0002
1000Genomes African Sub 1322 G=0.9992 A=0.0008
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
Korean Genome Project KOREAN Study-wide 1830 G=0.9989 T=0.0011
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 14 NC_000014.9:g.24339459G>A
GRCh38.p14 chr 14 NC_000014.9:g.24339459G>T
RIPK3 RefSeqGene NG_046975.1:g.5578C>T
RIPK3 RefSeqGene NG_046975.1:g.5578C>A
GRCh38.p14 chr 14 fix patch HG1_PATCH NW_018654722.1:g.640437G>A
GRCh38.p14 chr 14 fix patch HG1_PATCH NW_018654722.1:g.640437G>T
GRCh37.p13 chr 14 NC_000014.8:g.24808665G>A
GRCh37.p13 chr 14 NC_000014.8:g.24808665G>T
Gene: RIPK3, receptor interacting serine/threonine kinase 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RIPK3 transcript NM_006871.4:c.159C>T N [AAC] > N [AAT] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 3 NP_006862.2:p.Asn53= N (Asn) > N (Asn) Synonymous Variant
RIPK3 transcript NM_006871.4:c.159C>A N [AAC] > K [AAA] Coding Sequence Variant
receptor-interacting serine/threonine-protein kinase 3 NP_006862.2:p.Asn53Lys N (Asn) > K (Lys) Missense 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 G= A T
GRCh38.p14 chr 14 NC_000014.9:g.24339459= NC_000014.9:g.24339459G>A NC_000014.9:g.24339459G>T
RIPK3 RefSeqGene NG_046975.1:g.5578= NG_046975.1:g.5578C>T NG_046975.1:g.5578C>A
RIPK3 transcript NM_006871.4:c.159= NM_006871.4:c.159C>T NM_006871.4:c.159C>A
RIPK3 transcript NM_006871.3:c.159= NM_006871.3:c.159C>T NM_006871.3:c.159C>A
GRCh38.p14 chr 14 fix patch HG1_PATCH NW_018654722.1:g.640437= NW_018654722.1:g.640437G>A NW_018654722.1:g.640437G>T
GRCh37.p13 chr 14 NC_000014.8:g.24808665= NC_000014.8:g.24808665G>A NC_000014.8:g.24808665G>T
receptor-interacting serine/threonine-protein kinase 3 NP_006862.2:p.Asn53= NP_006862.2:p.Asn53= NP_006862.2:p.Asn53Lys
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#.

47 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342384781 May 09, 2011 (134)
2 EXOME_CHIP ss491483497 May 04, 2012 (137)
3 ILLUMINA ss780700145 Sep 08, 2015 (146)
4 ILLUMINA ss780792426 Sep 08, 2015 (146)
5 ILLUMINA ss783374321 Sep 08, 2015 (146)
6 ILLUMINA ss783473411 Sep 08, 2015 (146)
7 1000GENOMES ss1350218027 Aug 21, 2014 (142)
8 EVA_EXAC ss1691434804 Apr 01, 2015 (144)
9 ILLUMINA ss1752126250 Sep 08, 2015 (146)
10 ILLUMINA ss1917887265 Feb 12, 2016 (147)
11 ILLUMINA ss1917887266 Feb 12, 2016 (147)
12 ILLUMINA ss1946372727 Feb 12, 2016 (147)
13 ILLUMINA ss1959541132 Feb 12, 2016 (147)
14 ILLUMINA ss1959541133 Feb 12, 2016 (147)
15 HUMAN_LONGEVITY ss2200357655 Dec 20, 2016 (150)
16 GNOMAD ss2740639205 Nov 08, 2017 (151)
17 GNOMAD ss2749114975 Nov 08, 2017 (151)
18 GNOMAD ss2925447011 Nov 08, 2017 (151)
19 AFFY ss2985016812 Nov 08, 2017 (151)
20 ILLUMINA ss3021553215 Nov 08, 2017 (151)
21 ILLUMINA ss3021553216 Nov 08, 2017 (151)
22 ILLUMINA ss3627177218 Oct 12, 2018 (152)
23 ILLUMINA ss3627177219 Oct 12, 2018 (152)
24 ILLUMINA ss3634568604 Oct 12, 2018 (152)
25 ILLUMINA ss3634568605 Oct 12, 2018 (152)
26 ILLUMINA ss3640275932 Oct 12, 2018 (152)
27 ILLUMINA ss3640275933 Oct 12, 2018 (152)
28 ILLUMINA ss3644625828 Oct 12, 2018 (152)
29 ILLUMINA ss3644625829 Oct 12, 2018 (152)
30 ILLUMINA ss3651944289 Oct 12, 2018 (152)
31 ILLUMINA ss3651944290 Oct 12, 2018 (152)
32 ILLUMINA ss3653787887 Oct 12, 2018 (152)
33 ILLUMINA ss3725433515 Jul 13, 2019 (153)
34 ILLUMINA ss3744410141 Jul 13, 2019 (153)
35 ILLUMINA ss3744410142 Jul 13, 2019 (153)
36 ILLUMINA ss3744869212 Jul 13, 2019 (153)
37 ILLUMINA ss3744869213 Jul 13, 2019 (153)
38 PAGE_CC ss3771778060 Jul 13, 2019 (153)
39 ILLUMINA ss3772368157 Jul 13, 2019 (153)
40 EVA ss3824840637 Apr 27, 2020 (154)
41 KOGIC ss3974547010 Apr 27, 2020 (154)
42 TOPMED ss4963791814 Apr 26, 2021 (155)
43 EVA ss5414022479 Oct 16, 2022 (156)
44 1000G_HIGH_COVERAGE ss5595442890 Oct 16, 2022 (156)
45 EVA ss5847714908 Oct 16, 2022 (156)
46 EVA ss5900555109 Oct 16, 2022 (156)
47 EVA ss5947237748 Oct 16, 2022 (156)
48 1000Genomes NC_000014.8 - 24808665 Oct 12, 2018 (152)
49 1000Genomes_30x NC_000014.9 - 24339459 Oct 16, 2022 (156)
50 ExAC NC_000014.8 - 24808665 Oct 12, 2018 (152)
51 gnomAD - Genomes NC_000014.9 - 24339459 Apr 26, 2021 (155)
52 gnomAD - Exomes NC_000014.8 - 24808665 Jul 13, 2019 (153)
53 GO Exome Sequencing Project NC_000014.8 - 24808665 Oct 12, 2018 (152)
54 Korean Genome Project NC_000014.9 - 24339459 Apr 27, 2020 (154)
55 The PAGE Study NC_000014.9 - 24339459 Jul 13, 2019 (153)
56 TopMed NC_000014.9 - 24339459 Apr 26, 2021 (155)
57 ALFA NC_000014.9 - 24339459 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
63167853, 1775662, 9889283, 1297973, ss342384781, ss491483497, ss780700145, ss780792426, ss783374321, ss783473411, ss1350218027, ss1691434804, ss1752126250, ss1917887265, ss1917887266, ss1946372727, ss1959541132, ss1959541133, ss2740639205, ss2749114975, ss2925447011, ss2985016812, ss3021553215, ss3021553216, ss3627177218, ss3627177219, ss3634568604, ss3634568605, ss3640275932, ss3640275933, ss3644625828, ss3644625829, ss3651944289, ss3651944290, ss3653787887, ss3744410141, ss3744410142, ss3744869212, ss3744869213, ss3772368157, ss3824840637, ss5414022479, ss5847714908, ss5947237748 NC_000014.8:24808664:G:A NC_000014.9:24339458:G:A (self)
82968825, 445440549, 999529, 179337473, 10972785834, ss2200357655, ss3725433515, ss3771778060, ss4963791814, ss5595442890, ss5900555109 NC_000014.9:24339458:G:A NC_000014.9:24339458:G:A (self)
30925011, ss3974547010 NC_000014.9:24339458:G:T NC_000014.9:24339458: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 rs147837354

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