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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.

rs174696

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19965653 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.394038 (104298/264690, TOPMED)
C=0.372592 (51908/139316, GnomAD)
C=0.31932 (14284/44732, ALFA) (+ 12 more)
T=0.41032 (6877/16760, 8.3KJPN)
C=0.2789 (1243/4456, Estonian)
C=0.2255 (869/3854, ALSPAC)
C=0.2125 (788/3708, TWINSUK)
T=0.4446 (1299/2922, KOREAN)
C=0.4741 (897/1892, HapMap)
T=0.4449 (815/1832, Korea1K)
C=0.285 (171/600, NorthernSweden)
C=0.285 (114/400, SGDP_PRJ)
C=0.333 (72/216, Qatari)
C=0.23 (12/52, Siberian)
C=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COMT : Intron Variant
Publications
16 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 44732 C=0.31932 A=0.00000, T=0.68068
European Sub 29380 C=0.21971 A=0.00000, T=0.78029
African Sub 5742 C=0.6029 A=0.0000, T=0.3971
African Others Sub 196 C=0.628 A=0.000, T=0.372
African American Sub 5546 C=0.6021 A=0.0000, T=0.3979
Asian Sub 442 C=0.577 A=0.000, T=0.423
East Asian Sub 374 C=0.578 A=0.000, T=0.422
Other Asian Sub 68 C=0.57 A=0.00, T=0.43
Latin American 1 Sub 582 C=0.375 A=0.000, T=0.625
Latin American 2 Sub 4894 C=0.5875 A=0.0000, T=0.4125
South Asian Sub 162 C=0.469 A=0.000, T=0.531
Other Sub 3530 C=0.2671 A=0.0000, T=0.7329


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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.394038 T=0.605962
gnomAD - Genomes Global Study-wide 139316 C=0.372592 T=0.627408
gnomAD - Genomes European Sub 75340 C=0.24267 T=0.75733
gnomAD - Genomes African Sub 41834 C=0.58558 T=0.41442
gnomAD - Genomes American Sub 13558 C=0.45029 T=0.54971
gnomAD - Genomes Ashkenazi Jewish Sub 3314 C=0.1666 T=0.8334
gnomAD - Genomes East Asian Sub 3128 C=0.5368 T=0.4632
gnomAD - Genomes Other Sub 2142 C=0.3697 T=0.6303
Allele Frequency Aggregator Total Global 44732 C=0.31932 A=0.00000, T=0.68068
Allele Frequency Aggregator European Sub 29380 C=0.21971 A=0.00000, T=0.78029
Allele Frequency Aggregator African Sub 5742 C=0.6029 A=0.0000, T=0.3971
Allele Frequency Aggregator Latin American 2 Sub 4894 C=0.5875 A=0.0000, T=0.4125
Allele Frequency Aggregator Other Sub 3530 C=0.2671 A=0.0000, T=0.7329
Allele Frequency Aggregator Latin American 1 Sub 582 C=0.375 A=0.000, T=0.625
Allele Frequency Aggregator Asian Sub 442 C=0.577 A=0.000, T=0.423
Allele Frequency Aggregator South Asian Sub 162 C=0.469 A=0.000, T=0.531
8.3KJPN JAPANESE Study-wide 16760 C=0.58968 T=0.41032
Genetic variation in the Estonian population Estonian Study-wide 4456 C=0.2789 T=0.7211
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.2255 T=0.7745
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.2125 T=0.7875
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.5554 T=0.4446
HapMap Global Study-wide 1892 C=0.4741 T=0.5259
HapMap American Sub 770 C=0.447 T=0.553
HapMap African Sub 692 C=0.598 T=0.402
HapMap Asian Sub 254 C=0.457 T=0.543
HapMap Europe Sub 176 C=0.131 T=0.869
Korean Genome Project KOREAN Study-wide 1832 C=0.5551 T=0.4449
Northern Sweden ACPOP Study-wide 600 C=0.285 T=0.715
SGDP_PRJ Global Study-wide 400 C=0.285 T=0.715
Qatari Global Study-wide 216 C=0.333 T=0.667
Siberian Global Study-wide 52 C=0.23 T=0.77
The Danish reference pan genome Danish Study-wide 40 C=0.30 T=0.70
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.19965653C>A
GRCh38.p13 chr 22 NC_000022.11:g.19965653C>T
GRCh37.p13 chr 22 NC_000022.10:g.19953176C>A
GRCh37.p13 chr 22 NC_000022.10:g.19953176C>T
COMT RefSeqGene (LRG_1010) NG_011526.1:g.28914C>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.28914C>T
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 1 NM_000754.4:c.615+1354C>A N/A Intron Variant
COMT transcript variant 2 NM_001135161.2:c.615+1354…

NM_001135161.2:c.615+1354C>A

N/A Intron Variant
COMT transcript variant 3 NM_001135162.2:c.615+1354…

NM_001135162.2:c.615+1354C>A

N/A Intron Variant
COMT transcript variant 5 NM_001362828.2:c.615+1354…

NM_001362828.2:c.615+1354C>A

N/A Intron Variant
COMT transcript variant 4 NM_007310.3:c.465+1354C>A N/A Intron 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 C= A T
GRCh38.p13 chr 22 NC_000022.11:g.19965653= NC_000022.11:g.19965653C>A NC_000022.11:g.19965653C>T
GRCh37.p13 chr 22 NC_000022.10:g.19953176= NC_000022.10:g.19953176C>A NC_000022.10:g.19953176C>T
COMT RefSeqGene (LRG_1010) NG_011526.1:g.28914= NG_011526.1:g.28914C>A NG_011526.1:g.28914C>T
COMT transcript variant 1 NM_000754.3:c.615+1354= NM_000754.3:c.615+1354C>A NM_000754.3:c.615+1354C>T
COMT transcript variant 1 NM_000754.4:c.615+1354= NM_000754.4:c.615+1354C>A NM_000754.4:c.615+1354C>T
COMT transcript variant 2 NM_001135161.1:c.615+1354= NM_001135161.1:c.615+1354C>A NM_001135161.1:c.615+1354C>T
COMT transcript variant 2 NM_001135161.2:c.615+1354= NM_001135161.2:c.615+1354C>A NM_001135161.2:c.615+1354C>T
COMT transcript variant 3 NM_001135162.1:c.615+1354= NM_001135162.1:c.615+1354C>A NM_001135162.1:c.615+1354C>T
COMT transcript variant 3 NM_001135162.2:c.615+1354= NM_001135162.2:c.615+1354C>A NM_001135162.2:c.615+1354C>T
COMT transcript variant 5 NM_001362828.2:c.615+1354= NM_001362828.2:c.615+1354C>A NM_001362828.2:c.615+1354C>T
COMT transcript variant 4 NM_007310.2:c.465+1354= NM_007310.2:c.465+1354C>A NM_007310.2:c.465+1354C>T
COMT transcript variant 4 NM_007310.3:c.465+1354= NM_007310.3:c.465+1354C>A NM_007310.3:c.465+1354C>T
COMT transcript variant X1 XM_005261229.1:c.615+1354= XM_005261229.1:c.615+1354C>A XM_005261229.1:c.615+1354C>T
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#.

82 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss232573 Jul 12, 2000 (79)
2 SC ss459190 Jul 12, 2000 (87)
3 SC_JCM ss482728 Jul 16, 2000 (87)
4 KWOK ss1058125 Oct 04, 2000 (86)
5 KWOK ss1750411 Oct 18, 2000 (87)
6 TSC-CSHL ss2855742 Jan 22, 2001 (92)
7 EGP_SNPS ss12673773 Dec 05, 2003 (119)
8 CSHL-HAPMAP ss16917963 Feb 27, 2004 (120)
9 SSAHASNP ss21838552 Apr 05, 2004 (121)
10 ABI ss41543518 Mar 15, 2006 (126)
11 EGP_SNPS ss66862094 Nov 29, 2006 (127)
12 ILLUMINA ss75031205 Dec 07, 2007 (129)
13 HGSV ss82850944 Dec 14, 2007 (130)
14 HGSV ss83164740 Dec 14, 2007 (130)
15 BCMHGSC_JDW ss91877560 Mar 24, 2008 (129)
16 HUMANGENOME_JCVI ss96092647 Feb 04, 2009 (130)
17 BGI ss103841746 Dec 01, 2009 (131)
18 1000GENOMES ss112551500 Jan 25, 2009 (130)
19 1000GENOMES ss114036082 Jan 25, 2009 (130)
20 ILLUMINA-UK ss117362085 Dec 01, 2009 (131)
21 KRIBB_YJKIM ss119342836 Dec 01, 2009 (131)
22 ENSEMBL ss138335205 Dec 01, 2009 (131)
23 ENSEMBL ss142623411 Dec 01, 2009 (131)
24 GMI ss157034640 Dec 01, 2009 (131)
25 ILLUMINA ss160444682 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss168891687 Jul 04, 2010 (132)
27 ILLUMINA ss172834813 Jul 04, 2010 (132)
28 BUSHMAN ss204050458 Jul 04, 2010 (132)
29 1000GENOMES ss228618155 Jul 14, 2010 (132)
30 1000GENOMES ss238022312 Jul 15, 2010 (132)
31 1000GENOMES ss244151671 Jul 15, 2010 (132)
32 ILLUMINA ss244283746 Jul 04, 2010 (132)
33 BL ss255842579 May 09, 2011 (134)
34 GMI ss283587229 May 04, 2012 (137)
35 GMI ss287550252 Apr 25, 2013 (138)
36 PJP ss292736326 May 09, 2011 (134)
37 ILLUMINA ss480994780 Sep 08, 2015 (146)
38 ILLUMINA ss536970341 Sep 08, 2015 (146)
39 TISHKOFF ss566560800 Apr 25, 2013 (138)
40 SSMP ss662483764 Apr 25, 2013 (138)
41 EVA-GONL ss995222818 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1082570478 Aug 21, 2014 (142)
43 1000GENOMES ss1366683186 Aug 21, 2014 (142)
44 DDI ss1429219793 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1579704275 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1639753976 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1682748009 Apr 01, 2015 (144)
48 EVA_DECODE ss1699291924 Apr 01, 2015 (144)
49 EVA_SVP ss1713731251 Apr 01, 2015 (144)
50 HAMMER_LAB ss1809733990 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1938784415 Feb 12, 2016 (147)
52 JJLAB ss2030165226 Sep 14, 2016 (149)
53 USC_VALOUEV ss2158775182 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2246457163 Dec 20, 2016 (150)
55 TOPMED ss2413284052 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2629580765 Nov 08, 2017 (151)
57 GRF ss2704518137 Nov 08, 2017 (151)
58 GNOMAD ss2972986479 Nov 08, 2017 (151)
59 AFFY ss2985850726 Nov 08, 2017 (151)
60 BIOINF_KMB_FNS_UNIBA ss3028920329 Nov 08, 2017 (151)
61 TOPMED ss3374061520 Nov 08, 2017 (151)
62 TOPMED ss3374061521 Nov 08, 2017 (151)
63 ILLUMINA ss3628506025 Oct 12, 2018 (152)
64 ILLUMINA ss3636556590 Oct 12, 2018 (152)
65 ILLUMINA ss3638374450 Oct 12, 2018 (152)
66 ILLUMINA ss3643334858 Oct 12, 2018 (152)
67 URBANLAB ss3651151887 Oct 12, 2018 (152)
68 EGCUT_WGS ss3685618908 Jul 13, 2019 (153)
69 EVA_DECODE ss3707954991 Jul 13, 2019 (153)
70 ACPOP ss3743823296 Jul 13, 2019 (153)
71 EVA ss3759230950 Jul 13, 2019 (153)
72 PACBIO ss3788793367 Jul 13, 2019 (153)
73 PACBIO ss3793664458 Jul 13, 2019 (153)
74 PACBIO ss3798550783 Jul 13, 2019 (153)
75 EVA ss3835927812 Apr 27, 2020 (154)
76 EVA ss3841592408 Apr 27, 2020 (154)
77 EVA ss3847107068 Apr 27, 2020 (154)
78 SGDP_PRJ ss3890256838 Apr 27, 2020 (154)
79 KRGDB ss3940640427 Apr 27, 2020 (154)
80 KOGIC ss3983389701 Apr 27, 2020 (154)
81 TOPMED ss5105108607 Apr 26, 2021 (155)
82 TOMMO_GENOMICS ss5232040636 Apr 26, 2021 (155)
83 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19953176 Oct 12, 2018 (152)
84 Genetic variation in the Estonian population NC_000022.10 - 19953176 Oct 12, 2018 (152)
85 The Danish reference pan genome NC_000022.10 - 19953176 Apr 27, 2020 (154)
86 gnomAD - Genomes NC_000022.11 - 19965653 Apr 26, 2021 (155)
87 HapMap NC_000022.11 - 19965653 Apr 27, 2020 (154)
88 KOREAN population from KRGDB NC_000022.10 - 19953176 Apr 27, 2020 (154)
89 Korean Genome Project NC_000022.11 - 19965653 Apr 27, 2020 (154)
90 Northern Sweden NC_000022.10 - 19953176 Jul 13, 2019 (153)
91 Qatari NC_000022.10 - 19953176 Apr 27, 2020 (154)
92 SGDP_PRJ NC_000022.10 - 19953176 Apr 27, 2020 (154)
93 Siberian NC_000022.10 - 19953176 Apr 27, 2020 (154)
94 8.3KJPN NC_000022.10 - 19953176 Apr 26, 2021 (155)
95 TopMed NC_000022.11 - 19965653 Apr 26, 2021 (155)
96 UK 10K study - Twins NC_000022.10 - 19953176 Oct 12, 2018 (152)
97 ALFA NC_000022.11 - 19965653 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).

Associated ID History Updated (Build)
rs361926 Oct 23, 2000 (87)
rs57280722 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3930447662, ss3374061520 NC_000022.11:19965652:C:A NC_000022.11:19965652:C:A (self)
ss82850944, ss83164740 NC_000022.8:18327729:C:T NC_000022.11:19965652:C:T (self)
ss91877560, ss112551500, ss114036082, ss117362085, ss168891687, ss204050458, ss255842579, ss283587229, ss287550252, ss292736326, ss1699291924, ss1713731251, ss3643334858 NC_000022.9:18333175:C:T NC_000022.11:19965652:C:T (self)
44382047, 31357156, 5869214, 47817821, 17108161, 20826337, 42273818, 11291536, 90009943, 44382047, ss228618155, ss238022312, ss244151671, ss480994780, ss536970341, ss566560800, ss662483764, ss995222818, ss1082570478, ss1366683186, ss1429219793, ss1579704275, ss1639753976, ss1682748009, ss1809733990, ss1938784415, ss2030165226, ss2158775182, ss2413284052, ss2629580765, ss2704518137, ss2972986479, ss2985850726, ss3628506025, ss3636556590, ss3638374450, ss3685618908, ss3743823296, ss3759230950, ss3788793367, ss3793664458, ss3798550783, ss3835927812, ss3841592408, ss3890256838, ss3940640427, ss5232040636 NC_000022.10:19953175:C:T NC_000022.11:19965652:C:T (self)
566544343, 2227951, 39767702, 237443816, 380217554, 3930447662, ss2246457163, ss3028920329, ss3374061521, ss3651151887, ss3707954991, ss3847107068, ss3983389701, ss5105108607 NC_000022.11:19965652:C:T NC_000022.11:19965652:C:T (self)
ss232573, ss459190, ss482728, ss1058125, ss1750411, ss2855742, ss12673773, ss16917963, ss21838552, ss41543518, ss66862094, ss75031205, ss96092647, ss103841746, ss119342836, ss138335205, ss142623411, ss157034640, ss160444682, ss172834813, ss244283746 NT_011519.10:3105325:C:T NC_000022.11:19965652:C:T (self)
Help

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

16 citations for rs174696
PMID Title Author Year Journal
18436194 Catechol-O-methyltransferase contributes to genetic susceptibility shared among anxiety spectrum phenotypes. Hettema JM et al. 2008 Biological 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
18937309 Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study. Biederman J et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
19673036 Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population. Pal P et al. 2009 Croatian medical journal
20551675 Localizing putative markers in genetic association studies by incorporating linkage disequilibrium into bayesian hierarchical models. Fridley BL et al. 2010 Human heredity
20877297 Catechol O-methyltransferase pharmacogenomics and selective serotonin reuptake inhibitor response. Ji Y et al. 2012 The pharmacogenomics journal
21143251 A candidate gene association study of alcohol consumption in young women. Agrawal A et al. 2011 Alcoholism, clinical and experimental research
21172166 Pharmacogenetics of antidepressant response. Porcelli S et al. 2011 Journal of psychiatry & neuroscience
21656904 Association between polymorphisms in catechol-O-methyltransferase (COMT) and cocaine-induced paranoia in European-American and African-American populations. Ittiwut R et al. 2011 American journal of medical genetics. Part B, Neuropsychiatric genetics
21857968 Role of novelty seeking personality traits as mediator of the association between COMT and onset age of drug use in Chinese heroin dependent patients. Li T et al. 2011 PloS one
22440650 Multifaceted genomic risk for brain function in schizophrenia. Chen J et al. 2012 NeuroImage
25545355 Genetic variants and early cigarette smoking and nicotine dependence phenotypes in adolescents. O'Loughlin J et al. 2014 PloS one
25819021 A review of pharmacogenetic studies of substance-related disorders. Jones JD et al. 2015 Drug and alcohol dependence
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30178121 Neuroplasticity, Neurotransmission and Brain-Related Genes in Major Depression and Bipolar Disorder: Focus on Treatment Outcomes in an Asiatic Sample. Calabrò M et al. 2018 Advances in therapy
31096213 Alzheimer's Disease and Neurotransmission Gene Variants: Focus on Their Effects on Psychiatric Comorbidities and Inflammatory Parameters. Porcelli S et al. 2019 Neuropsychobiology
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