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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
chr1:700985 (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>G
Variation Type
SNV Single Nucleotide Variation
G=0.06464 (1018/15748, 8.3KJPN)
G=0.00771 (118/15298, ALFA)
G=0.0856 (225/2628, KOREAN) (+ 2 more)
G=0.037 (7/190, Qatari)
T=0.40 (25/62, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OR4F16 : Intron 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.700985T>A
GRCh38.p13 chr 1 NC_000001.11:g.700985T>G
GRCh37.p13 chr 1 NC_000001.10:g.636365T>A
GRCh37.p13 chr 1 NC_000001.10:g.636365T>G
Gene: OR4F16, olfactory receptor family 4 subfamily F member 16 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
OR4F16 transcript NM_001005277.1:c. N/A Genic Upstream Transcript Variant
OR4F16 transcript variant X2 XM_017002408.1:c.-2643-10…


N/A Intron Variant
OR4F16 transcript variant X3 XM_017002409.2:c.-2458-20…


N/A Intron Variant
OR4F16 transcript variant X4 XM_017002410.1:c.-2426+10…


N/A Intron Variant
OR4F16 transcript variant X5 XM_017002411.1:c.-2426+10…


N/A Intron Variant
OR4F16 transcript variant X1 XM_024449987.1:c.-2458-20…


N/A Intron Variant
OR4F16 transcript variant X6 XM_024449992.1:c.-2425-11…


N/A Intron Variant
OR4F16 transcript variant X7 XM_024449993.1:c. N/A Genic 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
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 15298 T=0.99229 A=0.00000, G=0.00771
European Sub 11686 T=0.98990 A=0.00000, G=0.01010
African Sub 2354 T=1.0000 A=0.0000, G=0.0000
African Others Sub 94 T=1.00 A=0.00, G=0.00
African American Sub 2260 T=1.0000 A=0.0000, G=0.0000
Asian Sub 96 T=1.00 A=0.00, G=0.00
East Asian Sub 74 T=1.00 A=0.00, G=0.00
Other Asian Sub 22 T=1.00 A=0.00, G=0.00
Latin American 1 Sub 122 T=1.000 A=0.000, G=0.000
Latin American 2 Sub 544 T=1.000 A=0.000, G=0.000
South Asian Sub 76 T=1.00 A=0.00, G=0.00
Other Sub 420 T=1.000 A=0.000, G=0.000


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
8.3KJPN JAPANESE Study-wide 15748 T=0.93536 G=0.06464
KOREAN population from KRGDB KOREAN Study-wide 2628 T=0.9144 G=0.0856
Qatari Global Study-wide 190 T=0.963 G=0.037
SGDP_PRJ Global Study-wide 62 T=0.40 G=0.60

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.p13 chr 1 NC_000001.11:g.700985= NC_000001.11:g.700985T>A NC_000001.11:g.700985T>G
GRCh37.p13 chr 1 NC_000001.10:g.636365= NC_000001.10:g.636365T>A NC_000001.10:g.636365T>G
OR4F16 transcript variant X2 XM_017002408.1:c.-2643-10191= XM_017002408.1:c.-2643-10191A>T XM_017002408.1:c.-2643-10191A>C
OR4F16 transcript variant X3 XM_017002409.2:c.-2458-2026= XM_017002409.2:c.-2458-2026A>T XM_017002409.2:c.-2458-2026A>C
OR4F16 transcript variant X4 XM_017002410.1:c.-2426+10726= XM_017002410.1:c.-2426+10726A>T XM_017002410.1:c.-2426+10726A>C
OR4F16 transcript variant X5 XM_017002411.1:c.-2426+10780= XM_017002411.1:c.-2426+10780A>T XM_017002411.1:c.-2426+10780A>C
OR4F16 transcript variant X1 XM_024449987.1:c.-2458-2026= XM_024449987.1:c.-2458-2026A>T XM_024449987.1:c.-2458-2026A>C
OR4F16 transcript variant X6 XM_024449992.1:c.-2425-11906= XM_024449992.1:c.-2425-11906A>T XM_024449992.1:c.-2425-11906A>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#.

10 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15431636 Oct 11, 2018 (152)
2 PADH-LAB_SPU ss1713846965 Sep 08, 2015 (146)
3 WEILL_CORNELL_DGM ss1917959474 Feb 12, 2016 (147)
4 GNOMAD ss2750627251 Nov 08, 2017 (151)
5 SWEGEN ss2986146622 Nov 08, 2017 (151)
6 TOPMED ss3066376760 Nov 08, 2017 (151)
7 TOPMED ss3066376761 Nov 08, 2017 (151)
8 SGDP_PRJ ss3847992300 Apr 25, 2020 (154)
9 KRGDB ss3892831682 Apr 25, 2020 (154)
10 TOMMO_GENOMICS ss5142046404 Apr 25, 2021 (155)
11 KOREAN population from KRGDB NC_000001.10 - 636365 Apr 25, 2020 (154)
12 Qatari NC_000001.10 - 636365 Apr 25, 2020 (154)
13 SGDP_PRJ NC_000001.10 - 636365 Apr 25, 2020 (154)
14 8.3KJPN NC_000001.10 - 636365 Apr 25, 2021 (155)
15 ALFA NC_000001.11 - 700985 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
13851882586, ss3066376760 NC_000001.11:700984:T:A NC_000001.11:700984:T:A (self)
9076, 1404, 9280, 15711, ss1713846965, ss1917959474, ss2750627251, ss2986146622, ss3847992300, ss3892831682, ss5142046404 NC_000001.10:636364:T:G NC_000001.11:700984:T:G (self)
13851882586, ss3066376761 NC_000001.11:700984:T:G NC_000001.11:700984:T:G (self)
ss15431636 NT_034471.3:114996:T:G NC_000001.11:700984:T:G (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 rs796478532


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