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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.

rs2691305

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:69511 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.050309 (8013/159276, GnomAD_exome)
A=0.06056 (4689/77432, ExAC)
A=0.16622 (12689/76340, GnomAD) (+ 11 more)
A=0.00027 (7/25844, 14KJPN)
A=0.00033 (5/15290, 8.3KJPN)
A=0.2402 (2300/9574, GO-ESP)
A=0.1284 (822/6404, 1000G_30x)
A=0.0004 (1/2716, KOREAN)
A=0.0000 (0/1712, Korea1K)
A=0.4238 (712/1680, ALFA)
G=0.309 (165/534, MGP)
A=0.034 (13/386, SGDP_PRJ)
A=0.144 (21/146, Qatari)
A=0.00 (0/30, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OR4F5 : 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 1680 A=0.4238 G=0.5762, T=0.0000
European Sub 714 A=0.101 G=0.899, T=0.000
African Sub 918 A=0.647 G=0.353, T=0.000
African Others Sub 42 A=0.69 G=0.31, T=0.00
African American Sub 876 A=0.645 G=0.355, T=0.000
Asian Sub 0 A=0 G=0, T=0
East Asian Sub 0 A=0 G=0, T=0
Other Asian Sub 0 A=0 G=0, T=0
Latin American 1 Sub 14 A=1.00 G=0.00, T=0.00
Latin American 2 Sub 8 A=1.0 G=0.0, T=0.0
South Asian Sub 0 A=0 G=0, T=0
Other Sub 26 A=0.92 G=0.08, T=0.00


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 - Exomes Global Study-wide 159276 A=0.050309 G=0.949691
gnomAD - Exomes European Sub 78564 A=0.02477 G=0.97523
gnomAD - Exomes Asian Sub 40624 A=0.00844 G=0.99156
gnomAD - Exomes American Sub 19986 A=0.04863 G=0.95137
gnomAD - Exomes African Sub 11340 A=0.39250 G=0.60750
gnomAD - Exomes Ashkenazi Jewish Sub 5056 A=0.0233 G=0.9767
gnomAD - Exomes Other Sub 3706 A=0.0494 G=0.9506
ExAC Global Study-wide 77432 A=0.06056 G=0.93944
ExAC Europe Sub 42152 A=0.02686 G=0.97314
ExAC Asian Sub 20818 A=0.01028 G=0.98972
ExAC African Sub 7392 A=0.4058 G=0.5942
ExAC American Sub 6474 A=0.0493 G=0.9507
ExAC Other Sub 596 A=0.040 G=0.960
gnomAD - Genomes Global Study-wide 76340 A=0.16622 G=0.83378
gnomAD - Genomes European Sub 38040 A=0.03002 G=0.96998
gnomAD - Genomes African Sub 26496 A=0.40429 G=0.59571
gnomAD - Genomes American Sub 6420 A=0.1016 G=0.8984
gnomAD - Genomes East Asian Sub 2824 A=0.0000 G=1.0000
gnomAD - Genomes Ashkenazi Jewish Sub 1464 A=0.0205 G=0.9795
gnomAD - Genomes Other Sub 1096 A=0.1396 G=0.8604
14KJPN JAPANESE Study-wide 25844 A=0.00027 G=0.99973
8.3KJPN JAPANESE Study-wide 15290 A=0.00033 G=0.99967
GO Exome Sequencing Project Global Study-wide 9574 A=0.2402 G=0.7598
GO Exome Sequencing Project European American Sub 6014 A=0.1126 G=0.8874
GO Exome Sequencing Project African American Sub 3560 A=0.4559 G=0.5441
1000Genomes_30x Global Study-wide 6404 A=0.1284 G=0.8716
1000Genomes_30x African Sub 1786 A=0.3807 G=0.6193
1000Genomes_30x Europe Sub 1266 A=0.0245 G=0.9755
1000Genomes_30x South Asian Sub 1202 A=0.0216 G=0.9784
1000Genomes_30x East Asian Sub 1170 A=0.0017 G=0.9983
1000Genomes_30x American Sub 980 A=0.085 G=0.915
KOREAN population from KRGDB KOREAN Study-wide 2716 A=0.0004 C=0.0000, G=0.9996, T=0.0000
Korean Genome Project KOREAN Study-wide 1712 A=0.0000 G=1.0000
Allele Frequency Aggregator Total Global 1680 A=0.4238 G=0.5762, T=0.0000
Allele Frequency Aggregator African Sub 918 A=0.647 G=0.353, T=0.000
Allele Frequency Aggregator European Sub 714 A=0.101 G=0.899, T=0.000
Allele Frequency Aggregator Other Sub 26 A=0.92 G=0.08, T=0.00
Allele Frequency Aggregator Latin American 1 Sub 14 A=1.00 G=0.00, T=0.00
Allele Frequency Aggregator Latin American 2 Sub 8 A=1.0 G=0.0, T=0.0
Allele Frequency Aggregator South Asian Sub 0 A=0 G=0, T=0
Allele Frequency Aggregator Asian Sub 0 A=0 G=0, T=0
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.691 G=0.309
SGDP_PRJ Global Study-wide 386 A=0.034 G=0.966
Qatari Global Study-wide 146 A=0.144 G=0.856
The Danish reference pan genome Danish Study-wide 30 A=0.00 G=1.00
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.69511A>C
GRCh38.p14 chr 1 NC_000001.11:g.69511A>G
GRCh38.p14 chr 1 NC_000001.11:g.69511A>T
GRCh37.p13 chr 1 NC_000001.10:g.69511A>C
GRCh37.p13 chr 1 NC_000001.10:g.69511A>G
GRCh37.p13 chr 1 NC_000001.10:g.69511A>T
Gene: OR4F5, olfactory receptor family 4 subfamily F member 5 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
OR4F5 transcript NM_001005484.2:c.484A>C T [ACA] > P [CCA] Coding Sequence Variant
olfactory receptor 4F5 NP_001005484.2:p.Thr162Pro T (Thr) > P (Pro) Missense Variant
OR4F5 transcript NM_001005484.2:c.484A>G T [ACA] > A [GCA] Coding Sequence Variant
olfactory receptor 4F5 NP_001005484.2:p.Thr162Ala T (Thr) > A (Ala) Missense Variant
OR4F5 transcript NM_001005484.2:c.484A>T T [ACA] > S [TCA] Coding Sequence Variant
olfactory receptor 4F5 NP_001005484.2:p.Thr162Ser T (Thr) > S (Ser) 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 A= C G T
GRCh38.p14 chr 1 NC_000001.11:g.69511= NC_000001.11:g.69511A>C NC_000001.11:g.69511A>G NC_000001.11:g.69511A>T
GRCh37.p13 chr 1 NC_000001.10:g.69511= NC_000001.10:g.69511A>C NC_000001.10:g.69511A>G NC_000001.10:g.69511A>T
OR4F5 transcript NM_001005484.2:c.484= NM_001005484.2:c.484A>C NM_001005484.2:c.484A>G NM_001005484.2:c.484A>T
OR4F5 transcript NM_001005484.1:c.421= NM_001005484.1:c.421A>C NM_001005484.1:c.421A>G NM_001005484.1:c.421A>T
olfactory receptor 4F5 NP_001005484.2:p.Thr162= NP_001005484.2:p.Thr162Pro NP_001005484.2:p.Thr162Ala NP_001005484.2:p.Thr162Ser
olfactory receptor 4F5 NP_001005484.1:p.Thr141= NP_001005484.1:p.Thr141Pro NP_001005484.1:p.Thr141Ala NP_001005484.1:p.Thr141Ser
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, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3800434 Sep 28, 2001 (100)
2 TSC-CSHL ss5538043 Oct 08, 2002 (108)
3 SEATTLESEQ ss159695636 Dec 01, 2009 (131)
4 ENSEMBL ss161264027 Dec 01, 2009 (144)
5 GMI ss275679928 May 04, 2012 (144)
6 1000GENOMES ss328356553 May 09, 2011 (144)
7 EXOME_CHIP ss491283777 May 04, 2012 (144)
8 CLINSEQ_SNP ss491581602 May 04, 2012 (144)
9 SSMP ss647514855 Apr 25, 2013 (144)
10 NHLBI-ESP ss712260234 Apr 25, 2013 (144)
11 EVA-GONL ss974768783 Aug 21, 2014 (144)
12 EVA_GENOME_DK ss1573850733 Apr 01, 2015 (144)
13 EVA_EXAC ss1685216903 Apr 01, 2015 (144)
14 EVA_MGP ss1710883276 Apr 01, 2015 (144)
15 HAMMER_LAB ss1793705117 Sep 08, 2015 (146)
16 WEILL_CORNELL_DGM ss1917958344 Feb 12, 2016 (147)
17 JJLAB ss2019497558 Sep 14, 2016 (149)
18 EVA ss2137544313 Oct 12, 2022 (156)
19 EVA ss2137544372 Oct 12, 2022 (156)
20 SYSTEMSBIOZJU ss2624264585 Nov 08, 2017 (151)
21 GRF ss2697373043 Nov 08, 2017 (151)
22 GNOMAD ss2730985573 Nov 08, 2017 (151)
23 GNOMAD ss2746168745 Nov 08, 2017 (151)
24 GNOMAD ss2750605019 Nov 08, 2017 (151)
25 SWEGEN ss2986142138 Nov 08, 2017 (151)
26 CSHL ss3343271586 Nov 08, 2017 (151)
27 OMUKHERJEE_ADBS ss3646218171 Oct 11, 2018 (152)
28 EVA ss3745720546 Jul 12, 2019 (153)
29 EVA ss3823541267 Apr 25, 2020 (154)
30 SGDP_PRJ ss3847984346 Apr 25, 2020 (154)
31 KRGDB ss3892824135 Apr 25, 2020 (154)
32 KOGIC ss3943622781 Apr 25, 2020 (154)
33 FSA-LAB ss3983910148 Apr 25, 2021 (155)
34 EVA ss3986007750 Apr 25, 2021 (155)
35 EVA ss3986090485 Apr 25, 2021 (155)
36 TOMMO_GENOMICS ss5142033424 Apr 25, 2021 (155)
37 1000G_HIGH_COVERAGE ss5512475563 Oct 12, 2022 (156)
38 EVA ss5623985450 Oct 12, 2022 (156)
39 SANFORD_IMAGENETICS ss5624742726 Oct 12, 2022 (156)
40 TOMMO_GENOMICS ss5666166066 Oct 12, 2022 (156)
41 EVA ss5800076302 Oct 12, 2022 (156)
42 YY_MCH ss5800240595 Oct 12, 2022 (156)
43 EVA ss5831416703 Oct 12, 2022 (156)
44 EVA ss5906703829 Oct 12, 2022 (156)
45 EVA ss5936507309 Oct 12, 2022 (156)
46 EVA ss5936581811 Oct 12, 2022 (156)
47 EVA ss5979925918 Oct 12, 2022 (156)
48 1000Genomes_30x NC_000001.11 - 69511 Oct 12, 2022 (156)
49 ExAC NC_000001.10 - 69511 Oct 11, 2018 (152)
50 The Danish reference pan genome NC_000001.10 - 69511 Apr 25, 2020 (154)
51 gnomAD - Genomes NC_000001.11 - 69511 Apr 25, 2021 (155)
52 gnomAD - Exomes NC_000001.10 - 69511 Jul 12, 2019 (153)
53 GO Exome Sequencing Project NC_000001.10 - 69511 Oct 11, 2018 (152)
54 KOREAN population from KRGDB NC_000001.10 - 69511 Apr 25, 2020 (154)
55 Korean Genome Project NC_000001.11 - 69511 Apr 25, 2020 (154)
56 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 69511 Apr 25, 2020 (154)
57 Qatari NC_000001.10 - 69511 Apr 25, 2020 (154)
58 SGDP_PRJ NC_000001.10 - 69511 Apr 25, 2020 (154)
59 8.3KJPN NC_000001.10 - 69511 Apr 25, 2021 (155)
60 14KJPN NC_000001.11 - 69511 Oct 12, 2022 (156)
61 ALFA NC_000001.11 - 69511 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).

Associated ID History Updated (Build)
rs75062661 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1529, ss3892824135 NC_000001.10:69510:A:C NC_000001.11:69510:A:C (self)
ss275679928, ss491581602 NC_000001.9:59373:A:G NC_000001.11:69510:A:G (self)
4389974, 1357967, 140, 4, 1529, 28, 274, 1326, 2731, ss328356553, ss491283777, ss647514855, ss712260234, ss974768783, ss1573850733, ss1685216903, ss1710883276, ss1793705117, ss1917958344, ss2019497558, ss2137544313, ss2137544372, ss2624264585, ss2697373043, ss2730985573, ss2746168745, ss2750605019, ss2986142138, ss3343271586, ss3646218171, ss3745720546, ss3823541267, ss3847984346, ss3892824135, ss3983910148, ss3986007750, ss3986090485, ss5142033424, ss5623985450, ss5624742726, ss5800076302, ss5831416703, ss5936507309, ss5936581811, ss5979925918 NC_000001.10:69510:A:G NC_000001.11:69510:A:G (self)
1498, 6511, 782, 3170, 2677215787, ss3943622781, ss5512475563, ss5666166066, ss5800240595, ss5906703829 NC_000001.11:69510:A:G NC_000001.11:69510:A:G (self)
ss3800434, ss5538043, ss159695636, ss161264027 NT_077402.2:59510:A:G NC_000001.11:69510:A:G (self)
1529, ss2730985573, ss3892824135 NC_000001.10:69510:A:T NC_000001.11:69510:A:T (self)
2677215787 NC_000001.11:69510:A:T NC_000001.11:69510:A: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 rs2691305

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