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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:63697 (GRCh38.p13) 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.

T>A / T>C
Variation Type
SNV Single Nucleotide Variation
C=0.237493 (24268/102184, GnomAD)
C=0.35939 (5927/16492, 8.3KJPN)
C=0.21763 (3519/16170, ALFA) (+ 7 more)
C=0.3649 (1045/2864, KOREAN)
C=0.3230 (582/1802, Korea1K)
C=0.157 (157/998, GoNL)
C=0.193 (111/576, NorthernSweden)
C=0.032 (17/534, MGP)
T=0.436 (115/264, SGDP_PRJ)
C=0.238 (49/206, Qatari)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OR4F5 : 2KB Upstream Variant
0 citations
Genomic View
See rs on genome

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.p13 chr 1 NC_000001.11:g.63697T>A
GRCh38.p13 chr 1 NC_000001.11:g.63697T>C
GRCh37.p13 chr 1 NC_000001.10:g.63697T>A
GRCh37.p13 chr 1 NC_000001.10:g.63697T>C
OR4G11P pseudogene NG_004423.3:g.782T>A
OR4G11P pseudogene NG_004423.3:g.782T>C
Gene: OR4F5, olfactory receptor family 4 subfamily F member 5 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
OR4F5 transcript NM_001005484.2:c. N/A Upstream Transcript Variant

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

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 16170 T=0.78237 C=0.21763
European Sub 11920 T=0.82852 C=0.17148
African Sub 2816 T=0.6229 C=0.3771
African Others Sub 108 T=0.620 C=0.380
African American Sub 2708 T=0.6230 C=0.3770
Asian Sub 108 T=0.694 C=0.306
East Asian Sub 84 T=0.69 C=0.31
Other Asian Sub 24 T=0.71 C=0.29
Latin American 1 Sub 146 T=0.788 C=0.212
Latin American 2 Sub 610 T=0.669 C=0.331
South Asian Sub 94 T=0.82 C=0.18
Other Sub 476 T=0.727 C=0.273


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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 102184 T=0.762507 C=0.237493
gnomAD - Genomes European Sub 54538 T=0.84321 C=0.15679
gnomAD - Genomes African Sub 31962 T=0.63866 C=0.36134
gnomAD - Genomes American Sub 9488 T=0.7198 C=0.2802
gnomAD - Genomes East Asian Sub 2406 T=0.7049 C=0.2951
gnomAD - Genomes Ashkenazi Jewish Sub 2260 T=0.8190 C=0.1810
gnomAD - Genomes Other Sub 1530 T=0.7451 C=0.2549
8.3KJPN JAPANESE Study-wide 16492 T=0.64061 C=0.35939
Allele Frequency Aggregator Total Global 16170 T=0.78237 C=0.21763
Allele Frequency Aggregator European Sub 11920 T=0.82852 C=0.17148
Allele Frequency Aggregator African Sub 2816 T=0.6229 C=0.3771
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.669 C=0.331
Allele Frequency Aggregator Other Sub 476 T=0.727 C=0.273
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.788 C=0.212
Allele Frequency Aggregator Asian Sub 108 T=0.694 C=0.306
Allele Frequency Aggregator South Asian Sub 94 T=0.82 C=0.18
KOREAN population from KRGDB KOREAN Study-wide 2864 T=0.6351 A=0.0000, C=0.3649
Korean Genome Project KOREAN Study-wide 1802 T=0.6770 C=0.3230
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.843 C=0.157
Northern Sweden ACPOP Study-wide 576 T=0.807 C=0.193
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.968 C=0.032
SGDP_PRJ Global Study-wide 264 T=0.436 C=0.564
Qatari Global Study-wide 206 T=0.762 C=0.238

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 C
GRCh38.p13 chr 1 NC_000001.11:g.63697= NC_000001.11:g.63697T>A NC_000001.11:g.63697T>C
GRCh37.p13 chr 1 NC_000001.10:g.63697= NC_000001.10:g.63697T>A NC_000001.10:g.63697T>C
OR4G11P pseudogene NG_004423.3:g.782= NG_004423.3:g.782T>A NG_004423.3:g.782T>C

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#.

20 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 COMPLETE_GENOMICS ss162980562 Jul 04, 2010 (132)
2 GMI ss275679924 May 04, 2012 (142)
3 CLINSEQ_SNP ss491581599 May 04, 2012 (142)
4 BILGI_BIOE ss538305564 Apr 25, 2013 (142)
5 SSMP ss647514840 Apr 25, 2013 (142)
6 EVA-GONL ss974768771 Aug 21, 2014 (142)
7 DDI ss1425684560 Apr 01, 2015 (144)
8 EVA_MGP ss1710883273 Apr 01, 2015 (144)
9 WEILL_CORNELL_DGM ss1917958282 Feb 12, 2016 (147)
10 JJLAB ss2019497548 Sep 14, 2016 (149)
11 GRF ss2697373019 Nov 08, 2017 (151)
12 GNOMAD ss2750604469 Nov 08, 2017 (151)
13 SWEGEN ss2986142048 Nov 08, 2017 (151)
14 TOPMED ss3066322488 Nov 08, 2017 (151)
15 CSHL ss3343271566 Nov 08, 2017 (151)
16 ACPOP ss3726715211 Jul 12, 2019 (153)
17 SGDP_PRJ ss3847984128 Apr 25, 2020 (154)
18 KRGDB ss3892823951 Apr 25, 2020 (154)
19 KOGIC ss3943622689 Apr 25, 2020 (154)
20 TOMMO_GENOMICS ss5142033023 Apr 25, 2021 (155)
21 gnomAD - Genomes NC_000001.11 - 63697 Apr 25, 2021 (155)
22 Genome of the Netherlands Release 5 NC_000001.10 - 63697 Apr 25, 2020 (154)
23 KOREAN population from KRGDB NC_000001.10 - 63697 Apr 25, 2020 (154)
24 Korean Genome Project NC_000001.11 - 63697 Apr 25, 2020 (154)
25 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 63697 Apr 25, 2020 (154)
26 Northern Sweden NC_000001.10 - 63697 Jul 12, 2019 (153)
27 Qatari NC_000001.10 - 63697 Apr 25, 2020 (154)
28 SGDP_PRJ NC_000001.10 - 63697 Apr 25, 2020 (154)
29 8.3KJPN NC_000001.10 - 63697 Apr 25, 2021 (155)
30 ALFA NC_000001.11 - 63697 Apr 25, 2021 (155)

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)
rs201582574 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1345, ss3892823951 NC_000001.10:63696:T:A NC_000001.11:63696:T:A (self)
ss162980562, ss275679924, ss491581599 NC_000001.9:53559:T:C NC_000001.11:63696:T:C (self)
23, 1345, 25, 76, 212, 1108, 2330, ss538305564, ss647514840, ss974768771, ss1425684560, ss1710883273, ss1917958282, ss2019497548, ss2697373019, ss2750604469, ss2986142048, ss3343271566, ss3726715211, ss3847984128, ss3892823951, ss5142033023 NC_000001.10:63696:T:C NC_000001.11:63696:T:C (self)
5448, 690, 832091573, ss3066322488, ss3943622689 NC_000001.11:63696:T:C NC_000001.11:63696:T:C (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs111440589


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.post596+ae089ad