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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.

rs75189095

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:821401 (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=0.014029 (1880/134012, GnomAD)
A=0.16183 (4573/28258, 14KJPN)
A=0.16175 (2710/16754, 8.3KJPN) (+ 9 more)
A=0.00821 (137/16684, ALFA)
A=0.0462 (296/6404, 1000G_30x)
A=0.0483 (242/5008, 1000G)
A=0.1775 (520/2930, KOREAN)
A=0.1594 (292/1832, Korea1K)
A=0.005 (1/216, Qatari)
G=0.36 (35/98, SGDP_PRJ)
G=0.5 (2/4, Siberian)
A=0.5 (2/4, 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 16684 G=0.99179 A=0.00821, C=0.00000, T=0.00000
European Sub 12214 G=0.99787 A=0.00213, C=0.00000, T=0.00000
African Sub 2846 G=0.9902 A=0.0098, C=0.0000, T=0.0000
African Others Sub 108 G=1.000 A=0.000, C=0.000, T=0.000
African American Sub 2738 G=0.9898 A=0.0102, C=0.0000, T=0.0000
Asian Sub 108 G=0.880 A=0.120, C=0.000, T=0.000
East Asian Sub 84 G=0.87 A=0.13, C=0.00, T=0.00
Other Asian Sub 24 G=0.92 A=0.08, C=0.00, T=0.00
Latin American 1 Sub 146 G=0.966 A=0.034, C=0.000, T=0.000
Latin American 2 Sub 610 G=0.928 A=0.072, C=0.000, T=0.000
South Asian Sub 94 G=0.96 A=0.04, C=0.00, T=0.00
Other Sub 666 G=0.974 A=0.026, C=0.000, 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
gnomAD - Genomes Global Study-wide 134012 G=0.985971 A=0.014029
gnomAD - Genomes European Sub 72974 G=0.99916 A=0.00084
gnomAD - Genomes African Sub 39686 G=0.98670 A=0.01330
gnomAD - Genomes American Sub 13106 G=0.94094 A=0.05906
gnomAD - Genomes Ashkenazi Jewish Sub 3158 G=0.9918 A=0.0082
gnomAD - Genomes East Asian Sub 3040 G=0.8553 A=0.1447
gnomAD - Genomes Other Sub 2048 G=0.9751 A=0.0249
14KJPN JAPANESE Study-wide 28258 G=0.83817 A=0.16183
8.3KJPN JAPANESE Study-wide 16754 G=0.83825 A=0.16175
Allele Frequency Aggregator Total Global 16684 G=0.99179 A=0.00821, C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 12214 G=0.99787 A=0.00213, C=0.00000, T=0.00000
Allele Frequency Aggregator African Sub 2846 G=0.9902 A=0.0098, C=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 666 G=0.974 A=0.026, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.928 A=0.072, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.966 A=0.034, C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 108 G=0.880 A=0.120, C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 94 G=0.96 A=0.04, C=0.00, T=0.00
1000Genomes_30x Global Study-wide 6404 G=0.9538 A=0.0462
1000Genomes_30x African Sub 1786 G=0.9815 A=0.0185
1000Genomes_30x Europe Sub 1266 G=0.9992 A=0.0008
1000Genomes_30x South Asian Sub 1202 G=0.9692 A=0.0308
1000Genomes_30x East Asian Sub 1170 G=0.8624 A=0.1376
1000Genomes_30x American Sub 980 G=0.935 A=0.065
1000Genomes Global Study-wide 5008 G=0.9517 A=0.0483
1000Genomes African Sub 1322 G=0.9811 A=0.0189
1000Genomes East Asian Sub 1008 G=0.8621 A=0.1379
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=0.966 A=0.034
1000Genomes American Sub 694 G=0.937 A=0.063
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8225 A=0.1775
Korean Genome Project KOREAN Study-wide 1832 G=0.8406 A=0.1594
Qatari Global Study-wide 216 G=0.995 A=0.005
SGDP_PRJ Global Study-wide 98 G=0.36 A=0.64
Siberian Global Study-wide 4 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 1 NC_000001.11:g.821401G>A
GRCh38.p14 chr 1 NC_000001.11:g.821401G>C
GRCh38.p14 chr 1 NC_000001.11:g.821401G>T
GRCh37.p13 chr 1 NC_000001.10:g.756781G>A
GRCh37.p13 chr 1 NC_000001.10:g.756781G>C
GRCh37.p13 chr 1 NC_000001.10:g.756781G>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 1 NC_000001.11:g.821401= NC_000001.11:g.821401G>A NC_000001.11:g.821401G>C NC_000001.11:g.821401G>T
GRCh37.p13 chr 1 NC_000001.10:g.756781= NC_000001.10:g.756781G>A NC_000001.10:g.756781G>C NC_000001.10:g.756781G>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#.

28 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 GMI ss154522331 Dec 01, 2009 (131)
2 1000GENOMES ss218190378 Jul 14, 2010 (132)
3 1000GENOMES ss238114965 Jul 15, 2010 (132)
4 GMI ss275680774 May 04, 2012 (137)
5 TISHKOFF ss553710382 Apr 25, 2013 (138)
6 SSMP ss647516116 Apr 25, 2013 (138)
7 1000GENOMES ss1289338924 Aug 21, 2014 (142)
8 WEILL_CORNELL_DGM ss1917960209 Feb 12, 2016 (147)
9 USC_VALOUEV ss2147484333 Dec 20, 2016 (150)
10 HUMAN_LONGEVITY ss2159368077 Dec 20, 2016 (150)
11 GRF ss2697374558 Nov 08, 2017 (151)
12 GNOMAD ss2750637138 Nov 08, 2017 (151)
13 SWEGEN ss2986148737 Nov 08, 2017 (151)
14 EVA ss3745720869 Jul 12, 2019 (153)
15 KHV_HUMAN_GENOMES ss3798743468 Jul 12, 2019 (153)
16 SGDP_PRJ ss3847995009 Apr 25, 2020 (154)
17 KRGDB ss3892835355 Apr 25, 2020 (154)
18 KOGIC ss3943629252 Apr 25, 2020 (154)
19 TOMMO_GENOMICS ss5142051358 Apr 25, 2021 (155)
20 1000G_HIGH_COVERAGE ss5240862804 Oct 12, 2022 (156)
21 EVA ss5316182536 Oct 12, 2022 (156)
22 1000G_HIGH_COVERAGE ss5512487333 Oct 12, 2022 (156)
23 SANFORD_IMAGENETICS ss5624748888 Oct 12, 2022 (156)
24 TOMMO_GENOMICS ss5666190351 Oct 12, 2022 (156)
25 YY_MCH ss5800243608 Oct 12, 2022 (156)
26 EVA ss5848748844 Oct 12, 2022 (156)
27 EVA ss5906704473 Oct 12, 2022 (156)
28 EVA ss5936582430 Oct 12, 2022 (156)
29 1000Genomes NC_000001.10 - 756781 Oct 11, 2018 (152)
30 1000Genomes_30x NC_000001.11 - 821401 Oct 12, 2022 (156)
31 gnomAD - Genomes NC_000001.11 - 821401 Apr 25, 2021 (155)
32 KOREAN population from KRGDB NC_000001.10 - 756781 Apr 25, 2020 (154)
33 Korean Genome Project NC_000001.11 - 821401 Apr 25, 2020 (154)
34 Qatari NC_000001.10 - 756781 Apr 25, 2020 (154)
35 SGDP_PRJ NC_000001.10 - 756781 Apr 25, 2020 (154)
36 Siberian NC_000001.10 - 756781 Apr 25, 2020 (154)
37 8.3KJPN NC_000001.10 - 756781 Apr 25, 2021 (155)
38 14KJPN NC_000001.11 - 821401 Oct 12, 2022 (156)
39 ALFA NC_000001.11 - 821401 Apr 25, 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
ss275680774 NC_000001.9:746643:G:A NC_000001.11:821400:G:A (self)
3638, 12749, 2139, 11989, 687, 20665, ss218190378, ss238114965, ss553710382, ss647516116, ss1289338924, ss1917960209, ss2147484333, ss2697374558, ss2750637138, ss2986148737, ss3745720869, ss3847995009, ss3892835355, ss5142051358, ss5316182536, ss5624748888, ss5936582430 NC_000001.10:756780:G:A NC_000001.11:821400:G:A (self)
13268, 62004, 7253, 27455, 11761435335, ss2159368077, ss3798743468, ss3943629252, ss5240862804, ss5512487333, ss5666190351, ss5800243608, ss5848748844, ss5906704473 NC_000001.11:821400:G:A NC_000001.11:821400:G:A (self)
ss154522331 NT_004350.19:235412:G:A NC_000001.11:821400:G:A (self)
11761435335 NC_000001.11:821400:G:C NC_000001.11:821400:G:C (self)
11761435335 NC_000001.11:821400:G:T NC_000001.11:821400: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 rs75189095

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