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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.

rs740602

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19962745 (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=0.063856 (16902/264690, TOPMED)
A=0.019787 (4958/250570, GnomAD_exome)
A=0.059865 (8396/140248, GnomAD) (+ 16 more)
A=0.023178 (2786/120200, ExAC)
A=0.02744 (1869/68124, ALFA)
A=0.06374 (829/13006, GO-ESP)
A=0.0599 (300/5008, 1000G)
A=0.0100 (45/4480, Estonian)
A=0.0036 (14/3854, ALSPAC)
A=0.0051 (19/3708, TWINSUK)
A=0.005 (5/998, GoNL)
A=0.001 (1/792, PRJEB37584)
A=0.007 (4/600, NorthernSweden)
A=0.057 (34/594, PharmGKB)
A=0.013 (7/534, MGP)
A=0.013 (4/302, FINRISK)
A=0.056 (12/216, Qatari)
A=0.133 (26/196, HapMap)
G=0.44 (15/34, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
COMT : Synonymous Variant
MIR4761 : 2KB Upstream Variant
Publications
5 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 68124 G=0.97256 A=0.02744
European Sub 52716 G=0.99359 A=0.00641
African Sub 7826 G=0.8214 A=0.1786
African Others Sub 264 G=0.795 A=0.205
African American Sub 7562 G=0.8223 A=0.1777
Asian Sub 246 G=1.000 A=0.000
East Asian Sub 182 G=1.000 A=0.000
Other Asian Sub 64 G=1.00 A=0.00
Latin American 1 Sub 482 G=0.959 A=0.041
Latin American 2 Sub 666 G=0.991 A=0.009
South Asian Sub 144 G=1.000 A=0.000
Other Sub 6044 G=0.9823 A=0.0177


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=0.936144 A=0.063856
gnomAD - Exomes Global Study-wide 250570 G=0.980213 A=0.019787
gnomAD - Exomes European Sub 134672 G=0.993733 A=0.006267
gnomAD - Exomes Asian Sub 48998 G=0.98882 A=0.01118
gnomAD - Exomes American Sub 34556 G=0.98701 A=0.01299
gnomAD - Exomes African Sub 16190 G=0.81581 A=0.18419
gnomAD - Exomes Ashkenazi Jewish Sub 10038 G=0.99641 A=0.00359
gnomAD - Exomes Other Sub 6116 G=0.9838 A=0.0162
gnomAD - Genomes Global Study-wide 140248 G=0.940135 A=0.059865
gnomAD - Genomes European Sub 75962 G=0.99393 A=0.00607
gnomAD - Genomes African Sub 42012 G=0.82262 A=0.17738
gnomAD - Genomes American Sub 13666 G=0.97358 A=0.02642
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9952 A=0.0048
gnomAD - Genomes East Asian Sub 3132 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9507 A=0.0493
ExAC Global Study-wide 120200 G=0.976822 A=0.023178
ExAC Europe Sub 72396 G=0.99391 A=0.00609
ExAC Asian Sub 25100 G=0.98833 A=0.01167
ExAC American Sub 11514 G=0.98854 A=0.01146
ExAC African Sub 10298 G=0.81482 A=0.18518
ExAC Other Sub 892 G=0.985 A=0.015
Allele Frequency Aggregator Total Global 68124 G=0.97256 A=0.02744
Allele Frequency Aggregator European Sub 52716 G=0.99359 A=0.00641
Allele Frequency Aggregator African Sub 7826 G=0.8214 A=0.1786
Allele Frequency Aggregator Other Sub 6044 G=0.9823 A=0.0177
Allele Frequency Aggregator Latin American 2 Sub 666 G=0.991 A=0.009
Allele Frequency Aggregator Latin American 1 Sub 482 G=0.959 A=0.041
Allele Frequency Aggregator Asian Sub 246 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 144 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.93626 A=0.06374
GO Exome Sequencing Project European American Sub 8600 G=0.9955 A=0.0045
GO Exome Sequencing Project African American Sub 4406 G=0.8207 A=0.1793
1000Genomes Global Study-wide 5008 G=0.9401 A=0.0599
1000Genomes African Sub 1322 G=0.7995 A=0.2005
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9911 A=0.0089
1000Genomes South Asian Sub 978 G=0.988 A=0.012
1000Genomes American Sub 694 G=0.980 A=0.020
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9900 A=0.0100
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9964 A=0.0036
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9949 A=0.0051
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.995 A=0.005
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.999 A=0.001
CNV burdens in cranial meningiomas CRM Sub 792 G=0.999 A=0.001
Northern Sweden ACPOP Study-wide 600 G=0.993 A=0.007
PharmGKB Aggregated Global Study-wide 594 G=0.943 A=0.057
PharmGKB Aggregated PA150020338 Sub 354 G=0.960 A=0.040
PharmGKB Aggregated PA137868583 Sub 240 G=0.917 A=0.083
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.987 A=0.013
FINRISK Finnish from FINRISK project Study-wide 302 G=0.987 A=0.013
Qatari Global Study-wide 216 G=0.944 A=0.056
HapMap Global Study-wide 196 G=0.867 A=0.133
HapMap African Sub 114 G=0.772 A=0.228
HapMap Asian Sub 82 G=1.00 A=0.00
SGDP_PRJ Global Study-wide 34 G=0.44 A=0.56
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.19962745G>A
GRCh37.p13 chr 22 NC_000022.10:g.19950268G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26006G>A
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 3 NM_001135162.2:c.219G>A Q [CAG] > Q [CAA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001128634.1:p.Gln73= Q (Gln) > Q (Gln) Synonymous Variant
COMT transcript variant 2 NM_001135161.2:c.219G>A Q [CAG] > Q [CAA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001128633.1:p.Gln73= Q (Gln) > Q (Gln) Synonymous Variant
COMT transcript variant 5 NM_001362828.2:c.219G>A Q [CAG] > Q [CAA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001349757.1:p.Gln73= Q (Gln) > Q (Gln) Synonymous Variant
COMT transcript variant 4 NM_007310.3:c.69G>A Q [CAG] > Q [CAA] Coding Sequence Variant
catechol O-methyltransferase isoform S-COMT NP_009294.1:p.Gln23= Q (Gln) > Q (Gln) Synonymous Variant
COMT transcript variant 1 NM_000754.4:c.219G>A Q [CAG] > Q [CAA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_000745.1:p.Gln73= Q (Gln) > Q (Gln) 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.

Allele: A (allele ID: 817777 )
ClinVar Accession Disease Names Clinical Significance
RCV001028886.1 Tramadol response Drug-Response
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.19962745= NC_000022.11:g.19962745G>A
GRCh37.p13 chr 22 NC_000022.10:g.19950268= NC_000022.10:g.19950268G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26006= NG_011526.1:g.26006G>A
COMT transcript variant 1 NM_000754.4:c.219= NM_000754.4:c.219G>A
COMT transcript variant 1 NM_000754.3:c.219= NM_000754.3:c.219G>A
COMT transcript variant 4 NM_007310.3:c.69= NM_007310.3:c.69G>A
COMT transcript variant 4 NM_007310.2:c.69= NM_007310.2:c.69G>A
COMT transcript variant 5 NM_001362828.2:c.219= NM_001362828.2:c.219G>A
COMT transcript variant 5 NM_001362828.1:c.219= NM_001362828.1:c.219G>A
COMT transcript variant 2 NM_001135161.2:c.219= NM_001135161.2:c.219G>A
COMT transcript variant 2 NM_001135161.1:c.219= NM_001135161.1:c.219G>A
COMT transcript variant 3 NM_001135162.2:c.219= NM_001135162.2:c.219G>A
COMT transcript variant 3 NM_001135162.1:c.219= NM_001135162.1:c.219G>A
catechol O-methyltransferase isoform MB-COMT NP_000745.1:p.Gln73= NP_000745.1:p.Gln73=
catechol O-methyltransferase isoform S-COMT NP_009294.1:p.Gln23= NP_009294.1:p.Gln23=
catechol O-methyltransferase isoform MB-COMT NP_001349757.1:p.Gln73= NP_001349757.1:p.Gln73=
catechol O-methyltransferase isoform MB-COMT NP_001128633.1:p.Gln73= NP_001128633.1:p.Gln73=
catechol O-methyltransferase isoform MB-COMT NP_001128634.1:p.Gln73= NP_001128634.1:p.Gln73=
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#.

62 SubSNP, 19 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss88858 Oct 05, 2000 (86)
2 AFFX ss2982264 Jun 15, 2001 (100)
3 UWGC ss4479992 Jul 03, 2002 (106)
4 SNP500CANCER ss5606263 Mar 31, 2003 (113)
5 EGP_SNPS ss12673756 Dec 05, 2003 (119)
6 PERLEGEN ss23789035 Sep 20, 2004 (123)
7 ABI ss41516537 Mar 13, 2006 (126)
8 APPLERA_GI ss48430000 Mar 13, 2006 (126)
9 PHARMGKB_PPII ss69367702 May 16, 2007 (127)
10 PHARMGKB_AB_DME ss84156126 Dec 15, 2007 (130)
11 HGSV ss85124407 Dec 15, 2007 (130)
12 HGSV ss86142224 Dec 15, 2007 (130)
13 1000GENOMES ss114036032 Jan 25, 2009 (130)
14 SEATTLESEQ ss159743876 Dec 01, 2009 (131)
15 ILLUMINA ss160877833 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss168891578 Jul 04, 2010 (132)
17 BUSHMAN ss204050443 Jul 04, 2010 (132)
18 1000GENOMES ss228618139 Jul 14, 2010 (132)
19 ILLUMINA ss244309414 Jul 04, 2010 (132)
20 NHLBI-ESP ss342536608 May 09, 2011 (134)
21 ILLUMINA ss482562510 Sep 08, 2015 (146)
22 ILLUMINA ss483832160 May 04, 2012 (137)
23 ILLUMINA ss484289277 May 04, 2012 (137)
24 1000GENOMES ss491188311 May 04, 2012 (137)
25 CLINSEQ_SNP ss491819528 May 04, 2012 (137)
26 ILLUMINA ss782359602 Sep 08, 2015 (146)
27 EVA-GONL ss995222788 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1067603853 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1082570460 Aug 21, 2014 (142)
30 1000GENOMES ss1366683079 Aug 21, 2014 (142)
31 EVA_FINRISK ss1584126411 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1639753930 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1682747963 Apr 01, 2015 (144)
34 EVA_EXAC ss1694228860 Apr 01, 2015 (144)
35 EVA_DECODE ss1699291894 Apr 01, 2015 (144)
36 EVA_MGP ss1711560472 Apr 01, 2015 (144)
37 HAMMER_LAB ss1809733982 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1938784388 Feb 12, 2016 (147)
39 HUMAN_LONGEVITY ss2246456942 Dec 20, 2016 (150)
40 TOPMED ss2413283824 Dec 20, 2016 (150)
41 ILLUMINA ss2710952865 Nov 08, 2017 (151)
42 GNOMAD ss2744959898 Nov 08, 2017 (151)
43 GNOMAD ss2750498415 Nov 08, 2017 (151)
44 GNOMAD ss2972986207 Nov 08, 2017 (151)
45 AFFY ss2985233269 Nov 08, 2017 (151)
46 AFFY ss2985850702 Nov 08, 2017 (151)
47 SWEGEN ss3019086360 Nov 08, 2017 (151)
48 TOPMED ss3374060873 Nov 08, 2017 (151)
49 ILLUMINA ss3636556577 Oct 12, 2018 (152)
50 OMUKHERJEE_ADBS ss3646561241 Oct 12, 2018 (152)
51 ILLUMINA ss3654001333 Oct 12, 2018 (152)
52 EGCUT_WGS ss3685618862 Jul 13, 2019 (153)
53 EVA_DECODE ss3707954944 Jul 13, 2019 (153)
54 ACPOP ss3743823277 Jul 13, 2019 (153)
55 KHV_HUMAN_GENOMES ss3822398801 Jul 13, 2019 (153)
56 EVA ss3825423896 Apr 27, 2020 (154)
57 EVA ss3825965507 Apr 27, 2020 (154)
58 SGDP_PRJ ss3890256783 Apr 27, 2020 (154)
59 FSA-LAB ss3984229791 Apr 26, 2021 (155)
60 EVA ss3984758325 Apr 26, 2021 (155)
61 EVA ss3986853409 Apr 26, 2021 (155)
62 TOPMED ss5105107665 Apr 26, 2021 (155)
63 1000Genomes NC_000022.10 - 19950268 Oct 12, 2018 (152)
64 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19950268 Oct 12, 2018 (152)
65 Genetic variation in the Estonian population NC_000022.10 - 19950268 Oct 12, 2018 (152)
66 ExAC NC_000022.10 - 19950268 Oct 12, 2018 (152)
67 FINRISK NC_000022.10 - 19950268 Apr 27, 2020 (154)
68 gnomAD - Genomes NC_000022.11 - 19962745 Apr 26, 2021 (155)
69 gnomAD - Exomes NC_000022.10 - 19950268 Jul 13, 2019 (153)
70 GO Exome Sequencing Project NC_000022.10 - 19950268 Oct 12, 2018 (152)
71 Genome of the Netherlands Release 5 NC_000022.10 - 19950268 Apr 27, 2020 (154)
72 HapMap NC_000022.11 - 19962745 Apr 27, 2020 (154)
73 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 19950268 Apr 27, 2020 (154)
74 Northern Sweden NC_000022.10 - 19950268 Jul 13, 2019 (153)
75 CNV burdens in cranial meningiomas NC_000022.10 - 19950268 Apr 26, 2021 (155)
76 PharmGKB Aggregated NC_000022.11 - 19962745 Apr 27, 2020 (154)
77 Qatari NC_000022.10 - 19950268 Apr 27, 2020 (154)
78 SGDP_PRJ NC_000022.10 - 19950268 Apr 27, 2020 (154)
79 TopMed NC_000022.11 - 19962745 Apr 26, 2021 (155)
80 UK 10K study - Twins NC_000022.10 - 19950268 Oct 12, 2018 (152)
81 ALFA NC_000022.11 - 19962745 Apr 26, 2021 (155)
82 ClinVar RCV001028886.1 Apr 27, 2020 (154)
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)
rs2070102 Sep 28, 2001 (100)
rs59692574 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85124407, ss86142224 NC_000022.8:18324821:G:A NC_000022.11:19962744:G:A (self)
ss114036032, ss168891578, ss204050443, ss484289277, ss491819528, ss1699291894 NC_000022.9:18330267:G:A NC_000022.11:19962744:G:A (self)
80217510, 44381999, 31357110, 5801074, 122872, 14289386, 1880753, 19773897, 676232, 17108142, 307906, 20826310, 42273763, 44381999, ss228618139, ss342536608, ss482562510, ss483832160, ss491188311, ss782359602, ss995222788, ss1067603853, ss1082570460, ss1366683079, ss1584126411, ss1639753930, ss1682747963, ss1694228860, ss1711560472, ss1809733982, ss1938784388, ss2413283824, ss2710952865, ss2744959898, ss2750498415, ss2972986207, ss2985233269, ss2985850702, ss3019086360, ss3636556577, ss3646561241, ss3654001333, ss3685618862, ss3743823277, ss3825423896, ss3825965507, ss3890256783, ss3984229791, ss3984758325, ss3986853409 NC_000022.10:19950267:G:A NC_000022.11:19962744:G:A (self)
RCV001028886.1, 566543618, 2227938, 7568, 237443220, 380216612, 929755835, ss2246456942, ss3374060873, ss3707954944, ss3822398801, ss5105107665 NC_000022.11:19962744:G:A NC_000022.11:19962744:G:A (self)
ss88858, ss2982264, ss4479992, ss5606263, ss12673756, ss23789035, ss41516537, ss48430000, ss69367702, ss84156126, ss159743876, ss160877833, ss244309414 NT_011519.10:3102417:G:A NC_000022.11:19962744: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.

5 citations for rs740602
PMID Title Author Year Journal
18574484 The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase. Mukherjee N et al. 2010 Molecular psychiatry
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
19365560 Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs. Nackley AG et al. 2009 PloS one
23922910 A clinical tool for reducing central nervous system depression among neonates exposed to codeine through breast milk. Kelly LE et al. 2013 PloS one
26988620 No associations between five polymorphisms in COMT gene and migraine. Takigawa H et al. 2017 Acta neurologica Scandinavica
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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