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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.

rs769223

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19963678 (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.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000480 (127/264690, TOPMED)
A=0.000412 (103/249940, GnomAD_exome)
A=0.000435 (61/140226, GnomAD) (+ 8 more)
A=0.000251 (30/119404, ExAC)
A=0.00014 (11/78654, PAGE_STUDY)
A=0.00038 (26/67612, ALFA)
A=0.00015 (2/13006, GO-ESP)
A=0.0002 (1/4480, Estonian)
A=0.0022 (7/3238, PRJNA289433)
A=0.000 (0/328, HapMap)
A=0.009 (2/216, Qatari)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COMT : Synonymous Variant
MIR4761 : 2KB Upstream Variant
Publications
2 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 67612 G=0.99962 A=0.00038
European Sub 54322 G=0.99961 A=0.00039
African Sub 4690 G=0.9998 A=0.0002
African Others Sub 154 G=1.000 A=0.000
African American Sub 4536 G=0.9998 A=0.0002
Asian Sub 202 G=1.000 A=0.000
East Asian Sub 146 G=1.000 A=0.000
Other Asian Sub 56 G=1.00 A=0.00
Latin American 1 Sub 498 G=1.000 A=0.000
Latin American 2 Sub 628 G=1.000 A=0.000
South Asian Sub 104 G=1.000 A=0.000
Other Sub 7168 G=0.9994 A=0.0006


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 G=0.999520 A=0.000480
gnomAD - Exomes Global Study-wide 249940 G=0.999588 A=0.000412
gnomAD - Exomes European Sub 134182 G=0.999829 A=0.000171
gnomAD - Exomes Asian Sub 48962 G=0.99992 A=0.00008
gnomAD - Exomes American Sub 34542 G=0.99887 A=0.00113
gnomAD - Exomes African Sub 16110 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10032 G=0.99701 A=0.00299
gnomAD - Exomes Other Sub 6112 G=0.9989 A=0.0011
gnomAD - Genomes Global Study-wide 140226 G=0.999565 A=0.000435
gnomAD - Genomes European Sub 75938 G=0.99995 A=0.00005
gnomAD - Genomes African Sub 42020 G=0.99998 A=0.00002
gnomAD - Genomes American Sub 13660 G=0.99641 A=0.00359
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9982 A=0.0018
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9995 A=0.0005
ExAC Global Study-wide 119404 G=0.999749 A=0.000251
ExAC Europe Sub 71792 G=0.99974 A=0.00026
ExAC Asian Sub 25072 G=1.00000 A=0.00000
ExAC American Sub 11508 G=0.99913 A=0.00087
ExAC African Sub 10154 G=1.00000 A=0.00000
ExAC Other Sub 878 G=0.999 A=0.001
The PAGE Study Global Study-wide 78654 G=0.99986 A=0.00014
The PAGE Study AfricanAmerican Sub 32496 G=0.99997 A=0.00003
The PAGE Study Mexican Sub 10800 G=0.99972 A=0.00028
The PAGE Study Asian Sub 8314 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7916 G=0.9999 A=0.0001
The PAGE Study NativeHawaiian Sub 4532 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4226 G=0.9993 A=0.0007
The PAGE Study Dominican Sub 3828 G=0.9997 A=0.0003
The PAGE Study CentralAmerican Sub 2444 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=0.9995 A=0.0005
The PAGE Study NativeAmerican Sub 1260 G=0.9992 A=0.0008
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 67612 G=0.99962 A=0.00038
Allele Frequency Aggregator European Sub 54322 G=0.99961 A=0.00039
Allele Frequency Aggregator Other Sub 7168 G=0.9994 A=0.0006
Allele Frequency Aggregator African Sub 4690 G=0.9998 A=0.0002
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 498 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 202 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 104 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.99985 A=0.00015
GO Exome Sequencing Project European American Sub 8600 G=0.9998 A=0.0002
GO Exome Sequencing Project African American Sub 4406 G=1.0000 A=0.0000
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9998 A=0.0002
MxGDAR/Encodat-PGx Global Study-wide 3238 G=0.9978 A=0.0022
MxGDAR/Encodat-PGx MxGDAR Sub 3238 G=0.9978 A=0.0022
HapMap Global Study-wide 328 G=1.000 A=0.000
HapMap African Sub 120 G=1.000 A=0.000
HapMap American Sub 120 G=1.000 A=0.000
HapMap Asian Sub 88 G=1.00 A=0.00
Qatari Global Study-wide 216 G=0.991 A=0.009
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.p13 chr 22 NC_000022.11:g.19963678G>A
GRCh37.p13 chr 22 NC_000022.10:g.19951201G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26939G>A
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 3 NM_001135162.2:c.402G>A A [GCG] > A [GCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001128634.1:p.Ala134= A (Ala) > A (Ala) Synonymous Variant
COMT transcript variant 2 NM_001135161.2:c.402G>A A [GCG] > A [GCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001128633.1:p.Ala134= A (Ala) > A (Ala) Synonymous Variant
COMT transcript variant 5 NM_001362828.2:c.402G>A A [GCG] > A [GCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001349757.1:p.Ala134= A (Ala) > A (Ala) Synonymous Variant
COMT transcript variant 4 NM_007310.3:c.252G>A A [GCG] > A [GCA] Coding Sequence Variant
catechol O-methyltransferase isoform S-COMT NP_009294.1:p.Ala84= A (Ala) > A (Ala) Synonymous Variant
COMT transcript variant 1 NM_000754.4:c.402G>A A [GCG] > A [GCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_000745.1:p.Ala134= A (Ala) > A (Ala) Synonymous Variant
Gene: MIR4761, microRNA 4761 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR4761 transcript NR_039918.1:n. N/A Upstream Transcript 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 G= A
GRCh38.p13 chr 22 NC_000022.11:g.19963678= NC_000022.11:g.19963678G>A
GRCh37.p13 chr 22 NC_000022.10:g.19951201= NC_000022.10:g.19951201G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26939= NG_011526.1:g.26939G>A
COMT transcript variant 1 NM_000754.4:c.402= NM_000754.4:c.402G>A
COMT transcript variant 1 NM_000754.3:c.402= NM_000754.3:c.402G>A
COMT transcript variant 4 NM_007310.3:c.252= NM_007310.3:c.252G>A
COMT transcript variant 4 NM_007310.2:c.252= NM_007310.2:c.252G>A
COMT transcript variant 5 NM_001362828.2:c.402= NM_001362828.2:c.402G>A
COMT transcript variant 5 NM_001362828.1:c.402= NM_001362828.1:c.402G>A
COMT transcript variant 2 NM_001135161.2:c.402= NM_001135161.2:c.402G>A
COMT transcript variant 2 NM_001135161.1:c.402= NM_001135161.1:c.402G>A
COMT transcript variant 3 NM_001135162.2:c.402= NM_001135162.2:c.402G>A
COMT transcript variant 3 NM_001135162.1:c.402= NM_001135162.1:c.402G>A
catechol O-methyltransferase isoform MB-COMT NP_000745.1:p.Ala134= NP_000745.1:p.Ala134=
catechol O-methyltransferase isoform S-COMT NP_009294.1:p.Ala84= NP_009294.1:p.Ala84=
catechol O-methyltransferase isoform MB-COMT NP_001349757.1:p.Ala134= NP_001349757.1:p.Ala134=
catechol O-methyltransferase isoform MB-COMT NP_001128633.1:p.Ala134= NP_001128633.1:p.Ala134=
catechol O-methyltransferase isoform MB-COMT NP_001128634.1:p.Ala134= NP_001128634.1:p.Ala134=
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#.

35 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 UWGC ss869769 Oct 05, 2000 (86)
2 SNP500CANCER ss5586359 Mar 31, 2003 (113)
3 EGP_SNPS ss12673764 Dec 05, 2003 (119)
4 ILLUMINA ss75238848 Dec 06, 2007 (129)
5 KRIBB_YJKIM ss119367413 Dec 01, 2009 (131)
6 ILLUMINA ss174497969 Jul 04, 2010 (132)
7 ILLUMINA ss537502027 Sep 08, 2015 (146)
8 NHLBI-ESP ss713608598 Apr 25, 2013 (138)
9 EVA_EXAC ss1694228932 Apr 01, 2015 (144)
10 WEILL_CORNELL_DGM ss1938784395 Feb 12, 2016 (147)
11 ILLUMINA ss1946577632 Feb 12, 2016 (147)
12 ILLUMINA ss1959965709 Feb 12, 2016 (147)
13 HUMAN_LONGEVITY ss2246457020 Dec 20, 2016 (150)
14 TOPMED ss2413283887 Dec 20, 2016 (150)
15 ILLUMINA ss2633862772 Nov 08, 2017 (151)
16 GNOMAD ss2744960008 Nov 08, 2017 (151)
17 GNOMAD ss2750498441 Nov 08, 2017 (151)
18 GNOMAD ss2972986290 Nov 08, 2017 (151)
19 ILLUMINA ss3022171893 Nov 08, 2017 (151)
20 TOPMED ss3374061072 Nov 08, 2017 (151)
21 ILLUMINA ss3625799485 Oct 12, 2018 (152)
22 ILLUMINA ss3628506012 Oct 12, 2018 (152)
23 ILLUMINA ss3638374443 Oct 12, 2018 (152)
24 ILLUMINA ss3643334850 Oct 12, 2018 (152)
25 ILLUMINA ss3644796329 Oct 12, 2018 (152)
26 ILLUMINA ss3652633445 Oct 12, 2018 (152)
27 EGCUT_WGS ss3685618874 Jul 13, 2019 (153)
28 ILLUMINA ss3725957491 Jul 13, 2019 (153)
29 ILLUMINA ss3744205024 Jul 13, 2019 (153)
30 PAGE_CC ss3772082271 Jul 13, 2019 (153)
31 EVA ss3825423908 Apr 27, 2020 (154)
32 EVA ss3825965509 Apr 27, 2020 (154)
33 EVA ss3984450651 Apr 26, 2021 (155)
34 EVA ss4017873653 Apr 26, 2021 (155)
35 TOPMED ss5105107958 Apr 26, 2021 (155)
36 Genetic variation in the Estonian population NC_000022.10 - 19951201 Oct 12, 2018 (152)
37 ExAC NC_000022.10 - 19951201 Oct 12, 2018 (152)
38 gnomAD - Genomes NC_000022.11 - 19963678 Apr 26, 2021 (155)
39 gnomAD - Exomes NC_000022.10 - 19951201 Jul 13, 2019 (153)
40 GO Exome Sequencing Project NC_000022.10 - 19951201 Oct 12, 2018 (152)
41 HapMap NC_000022.11 - 19963678 Apr 27, 2020 (154)
42 The PAGE Study NC_000022.11 - 19963678 Jul 13, 2019 (153)
43 MxGDAR/Encodat-PGx NC_000022.10 - 19951201 Apr 26, 2021 (155)
44 Qatari NC_000022.10 - 19951201 Apr 27, 2020 (154)
45 TopMed NC_000022.11 - 19963678 Apr 26, 2021 (155)
46 ALFA NC_000022.11 - 19963678 Apr 26, 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
ss3643334850 NC_000022.9:18331200:G:A NC_000022.11:19963677:G:A (self)
31357122, 5801150, 14289487, 1880765, 3652, 20826317, ss537502027, ss713608598, ss1694228932, ss1938784395, ss1946577632, ss1959965709, ss2413283887, ss2633862772, ss2744960008, ss2750498441, ss2972986290, ss3022171893, ss3625799485, ss3628506012, ss3638374443, ss3644796329, ss3652633445, ss3685618874, ss3744205024, ss3825423908, ss3825965509, ss3984450651, ss4017873653 NC_000022.10:19951200:G:A NC_000022.11:19963677:G:A (self)
566543840, 2227942, 1303740, 237443403, 380216905, 13492540890, ss2246457020, ss3374061072, ss3725957491, ss3772082271, ss5105107958 NC_000022.11:19963677:G:A NC_000022.11:19963677:G:A (self)
ss869769, ss5586359, ss12673764, ss75238848, ss119367413, ss174497969 NT_011519.10:3103350:G:A NC_000022.11:19963677:G:A (self)
Help

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

2 citations for rs769223
PMID Title Author Year Journal
16816940 Direct molecular haplotyping of multiple polymorphisms within exon 4 of the human catechol-O-methyltransferase gene by liquid chromatography-electrospray ionization time-of-flight mass spectrometry. Oberacher H et al. 2006 Analytical and bioanalytical chemistry
18663369 Panic disorder is associated with the serotonin transporter gene (SLC6A4) but not the promoter region (5-HTTLPR). Strug LJ et al. 2010 Molecular psychiatry
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.post676+237644a