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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.

rs181190157

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:224511544 (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
T>A / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000128 (34/264690, TOPMED)
G=0.000245 (60/244830, GnomAD_exome)
G=0.000107 (15/140230, GnomAD) (+ 9 more)
G=0.000215 (26/120790, ExAC)
G=0.00124 (35/28256, 14KJPN)
G=0.00149 (25/16760, 8.3KJPN)
G=0.00000 (0/14050, ALFA)
G=0.0009 (6/6404, 1000G_30x)
G=0.0004 (2/5008, 1000G)
G=0.0007 (2/2922, KOREAN)
G=0.0011 (2/1832, Korea1K)
G=0.010 (6/614, Vietnamese)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CUL3 : Synonymous 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 T=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 G=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 496 T=1.000 G=0.000 1.0 0.0 0.0 N/A


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 T=0.999872 G=0.000128
gnomAD - Exomes Global Study-wide 244830 T=0.999755 G=0.000245
gnomAD - Exomes European Sub 133268 T=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 46382 T=0.99886 G=0.00114
gnomAD - Exomes American Sub 33176 T=0.99997 G=0.00003
gnomAD - Exomes African Sub 16116 T=0.99994 G=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 9900 T=1.0000 G=0.0000
gnomAD - Exomes Other Sub 5988 T=0.9992 G=0.0008
gnomAD - Genomes Global Study-wide 140230 T=0.999893 G=0.000107
gnomAD - Genomes European Sub 75938 T=0.99999 G=0.00001
gnomAD - Genomes African Sub 42050 T=0.99998 G=0.00002
gnomAD - Genomes American Sub 13648 T=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3312 T=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3132 T=0.9958 G=0.0042
gnomAD - Genomes Other Sub 2150 T=1.0000 G=0.0000
ExAC Global Study-wide 120790 T=0.999785 G=0.000215
ExAC Europe Sub 72992 T=1.00000 G=0.00000
ExAC Asian Sub 25052 T=0.99900 G=0.00100
ExAC American Sub 11540 T=0.99991 G=0.00009
ExAC African Sub 10310 T=1.00000 G=0.00000
ExAC Other Sub 896 T=1.000 G=0.000
14KJPN JAPANESE Study-wide 28256 T=0.99876 G=0.00124
8.3KJPN JAPANESE Study-wide 16760 T=0.99851 G=0.00149
Allele Frequency Aggregator Total Global 14050 T=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 G=0.00
1000Genomes_30x Global Study-wide 6404 T=0.9991 G=0.0009
1000Genomes_30x African Sub 1786 T=1.0000 G=0.0000
1000Genomes_30x Europe Sub 1266 T=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 T=0.9983 G=0.0017
1000Genomes_30x East Asian Sub 1170 T=0.9966 G=0.0034
1000Genomes_30x American Sub 980 T=1.000 G=0.000
1000Genomes Global Study-wide 5008 T=0.9996 G=0.0004
1000Genomes African Sub 1322 T=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 T=0.9980 G=0.0020
1000Genomes Europe Sub 1006 T=1.0000 G=0.0000
1000Genomes South Asian Sub 978 T=1.000 G=0.000
1000Genomes American Sub 694 T=1.000 G=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9993 G=0.0007
Korean Genome Project KOREAN Study-wide 1832 T=0.9989 G=0.0011
A Vietnamese Genetic Variation Database Global Study-wide 614 T=0.990 G=0.010
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 2 NC_000002.12:g.224511544T>A
GRCh38.p14 chr 2 NC_000002.12:g.224511544T>G
GRCh37.p13 chr 2 NC_000002.11:g.225376261T>A
GRCh37.p13 chr 2 NC_000002.11:g.225376261T>G
CUL3 RefSeqGene NG_032169.1:g.78854A>T
CUL3 RefSeqGene NG_032169.1:g.78854A>C
Gene: CUL3, cullin 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CUL3 transcript variant 1 NM_003590.5:c.693A>T S [TCA] > S [TCT] Coding Sequence Variant
cullin-3 isoform 1 NP_003581.1:p.Ser231= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant 1 NM_003590.5:c.693A>C S [TCA] > S [TCC] Coding Sequence Variant
cullin-3 isoform 1 NP_003581.1:p.Ser231= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant 3 NM_001257198.2:c.711A>T S [TCA] > S [TCT] Coding Sequence Variant
cullin-3 isoform 3 NP_001244127.1:p.Ser237= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant 3 NM_001257198.2:c.711A>C S [TCA] > S [TCC] Coding Sequence Variant
cullin-3 isoform 3 NP_001244127.1:p.Ser237= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant 2 NM_001257197.2:c.495A>T S [TCA] > S [TCT] Coding Sequence Variant
cullin-3 isoform 2 NP_001244126.1:p.Ser165= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant 2 NM_001257197.2:c.495A>C S [TCA] > S [TCC] Coding Sequence Variant
cullin-3 isoform 2 NP_001244126.1:p.Ser165= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant X1 XM_006712800.3:c.660A>T S [TCA] > S [TCT] Coding Sequence Variant
cullin-3 isoform X1 XP_006712863.2:p.Ser220= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant X1 XM_006712800.3:c.660A>C S [TCA] > S [TCC] Coding Sequence Variant
cullin-3 isoform X1 XP_006712863.2:p.Ser220= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant X2 XM_011511995.2:c.651A>T S [TCA] > S [TCT] Coding Sequence Variant
cullin-3 isoform X2 XP_011510297.1:p.Ser217= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant X2 XM_011511995.2:c.651A>C S [TCA] > S [TCC] Coding Sequence Variant
cullin-3 isoform X2 XP_011510297.1:p.Ser217= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant X3 XM_011511996.3:c.501A>T S [TCA] > S [TCT] Coding Sequence Variant
cullin-3 isoform X3 XP_011510298.1:p.Ser167= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant X3 XM_011511996.3:c.501A>C S [TCA] > S [TCC] Coding Sequence Variant
cullin-3 isoform X3 XP_011510298.1:p.Ser167= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant X4 XM_047446024.1:c.501A>T S [TCA] > S [TCT] Coding Sequence Variant
cullin-3 isoform X3 XP_047301980.1:p.Ser167= S (Ser) > S (Ser) Synonymous Variant
CUL3 transcript variant X4 XM_047446024.1:c.501A>C S [TCA] > S [TCC] Coding Sequence Variant
cullin-3 isoform X3 XP_047301980.1:p.Ser167= S (Ser) > S (Ser) Synonymous 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.

Allele: G (allele ID: 287934 )
ClinVar Accession Disease Names Clinical Significance
RCV000333053.3 Autosomal dominant pseudohypoaldosteronism type 1 Likely-Benign
RCV001139550.2 Pseudohypoaldosteronism type 2E Benign
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 T= A G
GRCh38.p14 chr 2 NC_000002.12:g.224511544= NC_000002.12:g.224511544T>A NC_000002.12:g.224511544T>G
GRCh37.p13 chr 2 NC_000002.11:g.225376261= NC_000002.11:g.225376261T>A NC_000002.11:g.225376261T>G
CUL3 RefSeqGene NG_032169.1:g.78854= NG_032169.1:g.78854A>T NG_032169.1:g.78854A>C
CUL3 transcript variant 1 NM_003590.5:c.693= NM_003590.5:c.693A>T NM_003590.5:c.693A>C
CUL3 transcript variant 1 NM_003590.4:c.693= NM_003590.4:c.693A>T NM_003590.4:c.693A>C
CUL3 transcript variant 3 NM_001257198.2:c.711= NM_001257198.2:c.711A>T NM_001257198.2:c.711A>C
CUL3 transcript variant 3 NM_001257198.1:c.711= NM_001257198.1:c.711A>T NM_001257198.1:c.711A>C
CUL3 transcript variant 2 NM_001257197.2:c.495= NM_001257197.2:c.495A>T NM_001257197.2:c.495A>C
CUL3 transcript variant 2 NM_001257197.1:c.495= NM_001257197.1:c.495A>T NM_001257197.1:c.495A>C
CUL3 transcript variant X1 XM_006712800.3:c.660= XM_006712800.3:c.660A>T XM_006712800.3:c.660A>C
CUL3 transcript variant X1 XM_006712800.2:c.660= XM_006712800.2:c.660A>T XM_006712800.2:c.660A>C
CUL3 transcript variant X1 XM_006712800.1:c.774= XM_006712800.1:c.774A>T XM_006712800.1:c.774A>C
CUL3 transcript variant X3 XM_011511996.3:c.501= XM_011511996.3:c.501A>T XM_011511996.3:c.501A>C
CUL3 transcript variant X4 XM_011511996.2:c.501= XM_011511996.2:c.501A>T XM_011511996.2:c.501A>C
CUL3 transcript variant X4 XM_011511996.1:c.501= XM_011511996.1:c.501A>T XM_011511996.1:c.501A>C
CUL3 transcript variant X2 XM_011511995.2:c.651= XM_011511995.2:c.651A>T XM_011511995.2:c.651A>C
CUL3 transcript variant X3 XM_011511995.1:c.651= XM_011511995.1:c.651A>T XM_011511995.1:c.651A>C
CUL3 transcript variant X4 XM_047446024.1:c.501= XM_047446024.1:c.501A>T XM_047446024.1:c.501A>C
cullin-3 isoform 1 NP_003581.1:p.Ser231= NP_003581.1:p.Ser231= NP_003581.1:p.Ser231=
cullin-3 isoform 3 NP_001244127.1:p.Ser237= NP_001244127.1:p.Ser237= NP_001244127.1:p.Ser237=
cullin-3 isoform 2 NP_001244126.1:p.Ser165= NP_001244126.1:p.Ser165= NP_001244126.1:p.Ser165=
cullin-3 isoform X1 XP_006712863.2:p.Ser220= XP_006712863.2:p.Ser220= XP_006712863.2:p.Ser220=
cullin-3 isoform X3 XP_011510298.1:p.Ser167= XP_011510298.1:p.Ser167= XP_011510298.1:p.Ser167=
cullin-3 isoform X2 XP_011510297.1:p.Ser217= XP_011510297.1:p.Ser217= XP_011510297.1:p.Ser217=
cullin-3 isoform X3 XP_047301980.1:p.Ser167= XP_047301980.1:p.Ser167= XP_047301980.1:p.Ser167=
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#.

26 SubSNP, 12 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss455864489 Sep 17, 2011 (135)
2 1000GENOMES ss489854838 May 04, 2012 (137)
3 SSMP ss649922648 Apr 25, 2013 (138)
4 1000GENOMES ss1301866919 Aug 21, 2014 (142)
5 EVA_EXAC ss1686762743 Apr 01, 2015 (144)
6 HUMAN_LONGEVITY ss2239615613 Dec 20, 2016 (150)
7 GNOMAD ss2733375159 Nov 08, 2017 (151)
8 GNOMAD ss2746892535 Nov 08, 2017 (151)
9 GNOMAD ss2786953006 Nov 08, 2017 (151)
10 EVA ss3758153293 Jul 13, 2019 (153)
11 KHV_HUMAN_GENOMES ss3802515639 Jul 13, 2019 (153)
12 KRGDB ss3900441326 Apr 25, 2020 (154)
13 KOGIC ss3950196405 Apr 25, 2020 (154)
14 TOPMED ss4546563849 Apr 26, 2021 (155)
15 TOMMO_GENOMICS ss5156746066 Apr 26, 2021 (155)
16 EVA ss5236978769 Apr 26, 2021 (155)
17 1000G_HIGH_COVERAGE ss5252224419 Oct 12, 2022 (156)
18 TRAN_CS_UWATERLOO ss5314405008 Oct 12, 2022 (156)
19 EVA ss5336395868 Oct 12, 2022 (156)
20 1000G_HIGH_COVERAGE ss5529670382 Oct 12, 2022 (156)
21 TOMMO_GENOMICS ss5687702654 Oct 12, 2022 (156)
22 YY_MCH ss5803268914 Oct 12, 2022 (156)
23 EVA ss5852974592 Oct 12, 2022 (156)
24 EVA ss5934931872 Oct 12, 2022 (156)
25 EVA ss5935624427 Oct 12, 2022 (156)
26 EVA ss5957323921 Oct 12, 2022 (156)
27 1000Genomes NC_000002.11 - 225376261 Oct 11, 2018 (152)
28 1000Genomes_30x NC_000002.12 - 224511544 Oct 12, 2022 (156)
29 ExAC NC_000002.11 - 225376261 Oct 11, 2018 (152)
30 gnomAD - Genomes NC_000002.12 - 224511544 Apr 26, 2021 (155)
31 gnomAD - Exomes NC_000002.11 - 225376261 Jul 13, 2019 (153)
32 KOREAN population from KRGDB NC_000002.11 - 225376261 Apr 25, 2020 (154)
33 Korean Genome Project NC_000002.12 - 224511544 Apr 25, 2020 (154)
34 8.3KJPN NC_000002.11 - 225376261 Apr 26, 2021 (155)
35 14KJPN NC_000002.12 - 224511544 Oct 12, 2022 (156)
36 TopMed NC_000002.12 - 224511544 Apr 26, 2021 (155)
37 A Vietnamese Genetic Variation Database NC_000002.11 - 225376261 Jul 13, 2019 (153)
38 ALFA NC_000002.12 - 224511544 Apr 26, 2021 (155)
39 ClinVar RCV000333053.3 Oct 12, 2022 (156)
40 ClinVar RCV001139550.2 Oct 12, 2022 (156)
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
ss5935624427 NC_000002.11:225376260:T:A NC_000002.12:224511543:T:A
12980176, 6669197, 2442339, 7618720, 14715373, 1561108, ss455864489, ss489854838, ss649922648, ss1301866919, ss1686762743, ss2733375159, ss2746892535, ss2786953006, ss3758153293, ss3900441326, ss5156746066, ss5336395868, ss5935624427, ss5957323921 NC_000002.11:225376260:T:G NC_000002.12:224511543:T:G (self)
RCV000333053.3, RCV001139550.2, 17196317, 92523176, 6574406, 21539758, 350386728, 4443129534, ss2239615613, ss3802515639, ss3950196405, ss4546563849, ss5236978769, ss5252224419, ss5314405008, ss5529670382, ss5687702654, ss5803268914, ss5852974592, ss5934931872 NC_000002.12:224511543:T:G NC_000002.12:224511543:T:G (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 rs181190157

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.post820+afb47a3d