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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.

rs6269

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19962429 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.377544 (99932/264690, TOPMED)
G=0.378643 (53035/140066, GnomAD)
G=0.34577 (27192/78642, PAGE_STUDY) (+ 18 more)
G=0.37587 (17965/47796, ALFA)
G=0.26471 (4436/16758, 8.3KJPN)
G=0.3568 (1787/5008, 1000G)
G=0.3426 (1535/4480, Estonian)
G=0.4063 (1566/3854, ALSPAC)
G=0.4229 (1568/3708, TWINSUK)
G=0.3334 (973/2918, KOREAN)
G=0.3883 (1025/2640, PharmGKB)
G=0.3226 (591/1832, Korea1K)
G=0.414 (413/998, GoNL)
G=0.376 (287/764, PRJEB37584)
G=0.367 (220/600, NorthernSweden)
G=0.373 (199/534, MGP)
G=0.227 (117/516, Vietnamese)
A=0.369 (110/298, SGDP_PRJ)
G=0.352 (76/216, Qatari)
A=0.47 (40/86, Ancient Sardinia)
A=0.33 (12/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COMT : Intron Variant
MIR4761 : 2KB Upstream Variant
Publications
79 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 47796 A=0.62413 G=0.37587
European Sub 32946 A=0.60199 G=0.39801
African Sub 5370 A=0.6331 G=0.3669
African Others Sub 180 A=0.594 G=0.406
African American Sub 5190 A=0.6345 G=0.3655
Asian Sub 472 A=0.699 G=0.301
East Asian Sub 406 A=0.697 G=0.303
Other Asian Sub 66 A=0.71 G=0.29
Latin American 1 Sub 574 A=0.617 G=0.383
Latin American 2 Sub 4898 A=0.7695 G=0.2305
South Asian Sub 168 A=0.679 G=0.321
Other Sub 3368 A=0.6030 G=0.3970


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 A=0.622456 G=0.377544
gnomAD - Genomes Global Study-wide 140066 A=0.621357 G=0.378643
gnomAD - Genomes European Sub 75852 A=0.61348 G=0.38652
gnomAD - Genomes African Sub 41966 A=0.62453 G=0.37547
gnomAD - Genomes American Sub 13650 A=0.66791 G=0.33209
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.5199 G=0.4801
gnomAD - Genomes East Asian Sub 3124 A=0.6767 G=0.3233
gnomAD - Genomes Other Sub 2152 A=0.6180 G=0.3820
The PAGE Study Global Study-wide 78642 A=0.65423 G=0.34577
The PAGE Study AfricanAmerican Sub 32478 A=0.63027 G=0.36973
The PAGE Study Mexican Sub 10808 A=0.73973 G=0.26027
The PAGE Study Asian Sub 8310 A=0.7189 G=0.2811
The PAGE Study PuertoRican Sub 7914 A=0.6122 G=0.3878
The PAGE Study NativeHawaiian Sub 4530 A=0.5929 G=0.4071
The PAGE Study Cuban Sub 4228 A=0.5747 G=0.4253
The PAGE Study Dominican Sub 3828 A=0.6055 G=0.3945
The PAGE Study CentralAmerican Sub 2448 A=0.7569 G=0.2431
The PAGE Study SouthAmerican Sub 1982 A=0.7412 G=0.2588
The PAGE Study NativeAmerican Sub 1260 A=0.6548 G=0.3452
The PAGE Study SouthAsian Sub 856 A=0.683 G=0.317
8.3KJPN JAPANESE Study-wide 16758 A=0.73529 G=0.26471
1000Genomes Global Study-wide 5008 A=0.6432 G=0.3568
1000Genomes African Sub 1322 A=0.6286 G=0.3714
1000Genomes East Asian Sub 1008 A=0.6577 G=0.3423
1000Genomes Europe Sub 1006 A=0.5875 G=0.4125
1000Genomes South Asian Sub 978 A=0.675 G=0.325
1000Genomes American Sub 694 A=0.686 G=0.314
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6574 G=0.3426
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5937 G=0.4063
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5771 G=0.4229
KOREAN population from KRGDB KOREAN Study-wide 2918 A=0.6666 G=0.3334, T=0.0000
PharmGKB Aggregated Global Study-wide 2640 A=0.6117 G=0.3883
PharmGKB Aggregated PA155994383 Sub 2400 A=0.6175 G=0.3825
PharmGKB Aggregated PA137868583 Sub 240 A=0.554 G=0.446
Korean Genome Project KOREAN Study-wide 1832 A=0.6774 G=0.3226
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.586 G=0.414
CNV burdens in cranial meningiomas Global Study-wide 764 A=0.624 G=0.376
CNV burdens in cranial meningiomas CRM Sub 764 A=0.624 G=0.376
Northern Sweden ACPOP Study-wide 600 A=0.633 G=0.367
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.627 G=0.373
A Vietnamese Genetic Variation Database Global Study-wide 516 A=0.773 G=0.227
SGDP_PRJ Global Study-wide 298 A=0.369 G=0.631
Qatari Global Study-wide 216 A=0.648 G=0.352
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 86 A=0.47 G=0.53
Siberian Global Study-wide 36 A=0.33 G=0.67
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.19962429A>G
GRCh38.p13 chr 22 NC_000022.11:g.19962429A>T
GRCh37.p13 chr 22 NC_000022.10:g.19949952A>G
GRCh37.p13 chr 22 NC_000022.10:g.19949952A>T
COMT RefSeqGene (LRG_1010) NG_011526.1:g.25690A>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.25690A>T
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 1 NM_000754.4:c.1-98A>G N/A Intron Variant
COMT transcript variant 2 NM_001135161.2:c.1-98A>G N/A Intron Variant
COMT transcript variant 3 NM_001135162.2:c.1-98A>G N/A Intron Variant
COMT transcript variant 5 NM_001362828.2:c.-98= N/A 5 Prime UTR Variant
COMT transcript variant 4 NM_007310.3:c. N/A Genic Upstream Transcript 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 A= G T
GRCh38.p13 chr 22 NC_000022.11:g.19962429= NC_000022.11:g.19962429A>G NC_000022.11:g.19962429A>T
GRCh37.p13 chr 22 NC_000022.10:g.19949952= NC_000022.10:g.19949952A>G NC_000022.10:g.19949952A>T
COMT RefSeqGene (LRG_1010) NG_011526.1:g.25690= NG_011526.1:g.25690A>G NG_011526.1:g.25690A>T
COMT transcript variant 5 NM_001362828.2:c.-98= NM_001362828.2:c.-98A>G NM_001362828.2:c.-98A>T
COMT transcript variant 5 NM_001362828.1:c.-98= NM_001362828.1:c.-98A>G NM_001362828.1:c.-98A>T
COMT transcript variant 1 NM_000754.3:c.1-98= NM_000754.3:c.1-98A>G NM_000754.3:c.1-98A>T
COMT transcript variant 1 NM_000754.4:c.1-98= NM_000754.4:c.1-98A>G NM_000754.4:c.1-98A>T
COMT transcript variant 2 NM_001135161.1:c.1-98= NM_001135161.1:c.1-98A>G NM_001135161.1:c.1-98A>T
COMT transcript variant 2 NM_001135161.2:c.1-98= NM_001135161.2:c.1-98A>G NM_001135161.2:c.1-98A>T
COMT transcript variant 3 NM_001135162.1:c.1-98= NM_001135162.1:c.1-98A>G NM_001135162.1:c.1-98A>T
COMT transcript variant 3 NM_001135162.2:c.1-98= NM_001135162.2:c.1-98A>G NM_001135162.2:c.1-98A>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#.

85 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF-CSNP ss7893 Sep 19, 2000 (52)
2 YUSUKE ss5013783 Aug 28, 2002 (108)
3 RIKENSNPRC ss6311513 Feb 20, 2003 (111)
4 BCM_SSAHASNP ss11000448 Jul 11, 2003 (116)
5 HG_BONN_CNS_SNPS ss12586771 Aug 26, 2003 (117)
6 SC_SNP ss13346913 Dec 05, 2003 (119)
7 CSHL-HAPMAP ss16920657 Feb 27, 2004 (120)
8 CSHL-HAPMAP ss17715828 Feb 27, 2004 (120)
9 SSAHASNP ss21858278 Apr 05, 2004 (121)
10 IMCJ-GDT ss22886943 Apr 05, 2004 (121)
11 ABI ss44314521 Mar 13, 2006 (126)
12 PHARMGKB_PPII ss69367700 May 18, 2007 (127)
13 SI_EXO ss71646231 May 18, 2007 (127)
14 HGSV ss77107365 Dec 07, 2007 (129)
15 SHGC ss99307583 Feb 05, 2009 (130)
16 PHARMGKB_PPII ss105109904 Feb 05, 2009 (130)
17 SNP500CANCER ss105434871 Feb 05, 2009 (130)
18 1000GENOMES ss112551453 Jan 25, 2009 (130)
19 1000GENOMES ss114036022 Jan 25, 2009 (130)
20 ILLUMINA-UK ss117362069 Feb 14, 2009 (130)
21 GMI ss157034570 Dec 01, 2009 (131)
22 ILLUMINA ss160769711 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss167683166 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss168891569 Jul 04, 2010 (132)
25 BUSHMAN ss204050441 Jul 04, 2010 (132)
26 1000GENOMES ss228618136 Jul 14, 2010 (132)
27 1000GENOMES ss238022298 Jul 15, 2010 (132)
28 1000GENOMES ss244151656 Jul 15, 2010 (132)
29 BL ss255842561 May 09, 2011 (134)
30 GMI ss283587215 May 04, 2012 (137)
31 PJP ss292736315 May 09, 2011 (134)
32 ILLUMINA ss482238946 Sep 08, 2015 (146)
33 TISHKOFF ss566560781 Apr 25, 2013 (138)
34 SSMP ss662483739 Apr 25, 2013 (138)
35 JMKIDD_LAB ss974512057 Aug 21, 2014 (142)
36 EVA-GONL ss995222785 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1067603850 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1082570457 Aug 21, 2014 (142)
39 1000GENOMES ss1366683065 Aug 21, 2014 (142)
40 DDI ss1429219780 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1639753926 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1682747959 Apr 01, 2015 (144)
43 EVA_DECODE ss1699291888 Apr 01, 2015 (144)
44 EVA_MGP ss1711560469 Apr 01, 2015 (144)
45 HAMMER_LAB ss1809733981 Sep 08, 2015 (146)
46 WEILL_CORNELL_DGM ss1938784384 Feb 12, 2016 (147)
47 ILLUMINA ss1959965694 Feb 12, 2016 (147)
48 JJLAB ss2030165206 Sep 14, 2016 (149)
49 USC_VALOUEV ss2158775160 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2246456919 Dec 20, 2016 (150)
51 TOPMED ss2413283798 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2629580752 Nov 08, 2017 (151)
53 ILLUMINA ss2633862758 Nov 08, 2017 (151)
54 ILLUMINA ss2635110817 Nov 08, 2017 (151)
55 GRF ss2704518117 Nov 08, 2017 (151)
56 GNOMAD ss2972986173 Nov 08, 2017 (151)
57 AFFY ss2985850697 Nov 08, 2017 (151)
58 SWEGEN ss3019086351 Nov 08, 2017 (151)
59 ILLUMINA ss3022171881 Nov 08, 2017 (151)
60 BIOINF_KMB_FNS_UNIBA ss3028920317 Nov 08, 2017 (151)
61 CSHL ss3352776487 Nov 08, 2017 (151)
62 TOPMED ss3374060809 Nov 08, 2017 (151)
63 ILLUMINA ss3636556573 Oct 12, 2018 (152)
64 OMUKHERJEE_ADBS ss3646561239 Oct 12, 2018 (152)
65 ILLUMINA ss3652633433 Oct 12, 2018 (152)
66 EGCUT_WGS ss3685618851 Jul 13, 2019 (153)
67 EVA_DECODE ss3707954939 Jul 13, 2019 (153)
68 ILLUMINA ss3725957481 Jul 13, 2019 (153)
69 ACPOP ss3743823274 Jul 13, 2019 (153)
70 EVA ss3759230904 Jul 13, 2019 (153)
71 PAGE_CC ss3772082263 Jul 13, 2019 (153)
72 KHV_HUMAN_GENOMES ss3822398797 Jul 13, 2019 (153)
73 EVA ss3825965503 Apr 27, 2020 (154)
74 EVA ss3835927796 Apr 27, 2020 (154)
75 EVA ss3841592398 Apr 27, 2020 (154)
76 EVA ss3847107058 Apr 27, 2020 (154)
77 SGDP_PRJ ss3890256777 Apr 27, 2020 (154)
78 KRGDB ss3940640362 Apr 27, 2020 (154)
79 KOGIC ss3983389625 Apr 27, 2020 (154)
80 FSA-LAB ss3984229788 Apr 26, 2021 (155)
81 EVA ss3984758322 Apr 26, 2021 (155)
82 EVA ss3985910175 Apr 26, 2021 (155)
83 TOPMED ss5105107577 Apr 26, 2021 (155)
84 TOMMO_GENOMICS ss5232040497 Apr 26, 2021 (155)
85 EVA ss5237615140 Apr 26, 2021 (155)
86 1000Genomes NC_000022.10 - 19949952 Oct 12, 2018 (152)
87 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19949952 Oct 12, 2018 (152)
88 Genetic variation in the Estonian population NC_000022.10 - 19949952 Oct 12, 2018 (152)
89 gnomAD - Genomes NC_000022.11 - 19962429 Apr 26, 2021 (155)
90 Genome of the Netherlands Release 5 NC_000022.10 - 19949952 Apr 27, 2020 (154)
91 KOREAN population from KRGDB NC_000022.10 - 19949952 Apr 27, 2020 (154)
92 Korean Genome Project NC_000022.11 - 19962429 Apr 27, 2020 (154)
93 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 19949952 Apr 27, 2020 (154)
94 Northern Sweden NC_000022.10 - 19949952 Jul 13, 2019 (153)
95 The PAGE Study NC_000022.11 - 19962429 Jul 13, 2019 (153)
96 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000022.10 - 19949952 Apr 26, 2021 (155)
97 CNV burdens in cranial meningiomas NC_000022.10 - 19949952 Apr 26, 2021 (155)
98 PharmGKB Aggregated NC_000022.11 - 19962429 Apr 27, 2020 (154)
99 Qatari NC_000022.10 - 19949952 Apr 27, 2020 (154)
100 SGDP_PRJ NC_000022.10 - 19949952 Apr 27, 2020 (154)
101 Siberian NC_000022.10 - 19949952 Apr 27, 2020 (154)
102 8.3KJPN NC_000022.10 - 19949952 Apr 26, 2021 (155)
103 TopMed NC_000022.11 - 19962429 Apr 26, 2021 (155)
104 UK 10K study - Twins NC_000022.10 - 19949952 Oct 12, 2018 (152)
105 A Vietnamese Genetic Variation Database NC_000022.10 - 19949952 Jul 13, 2019 (153)
106 ALFA NC_000022.11 - 19962429 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)
rs3827293 Oct 08, 2002 (108)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77107365 NC_000022.8:18324505:A:G NC_000022.11:19962428:A:G (self)
ss112551453, ss114036022, ss117362069, ss160769711, ss167683166, ss168891569, ss204050441, ss255842561, ss283587215, ss292736315, ss1699291888, ss2635110817 NC_000022.9:18329951:A:G NC_000022.11:19962428:A:G (self)
80217496, 44381995, 31357099, 19773894, 47817756, 676229, 17108139, 1136102, 307903, 20826306, 42273757, 11291514, 90009804, 44381995, 9792528, ss228618136, ss238022298, ss244151656, ss482238946, ss566560781, ss662483739, ss974512057, ss995222785, ss1067603850, ss1082570457, ss1366683065, ss1429219780, ss1639753926, ss1682747959, ss1711560469, ss1809733981, ss1938784384, ss1959965694, ss2030165206, ss2158775160, ss2413283798, ss2629580752, ss2633862758, ss2704518117, ss2972986173, ss2985850697, ss3019086351, ss3022171881, ss3352776487, ss3636556573, ss3646561239, ss3652633433, ss3685618851, ss3743823274, ss3759230904, ss3825965503, ss3835927796, ss3841592398, ss3890256777, ss3940640362, ss3984229788, ss3984758322, ss3985910175, ss5232040497, ss5237615140 NC_000022.10:19949951:A:G NC_000022.11:19962428:A:G (self)
566543534, 39767626, 1303732, 7565, 237443164, 380216524, 11884562332, ss2246456919, ss3028920317, ss3374060809, ss3707954939, ss3725957481, ss3772082263, ss3822398797, ss3847107058, ss3983389625, ss5105107577 NC_000022.11:19962428:A:G NC_000022.11:19962428:A:G (self)
ss7893, ss5013783, ss6311513, ss11000448, ss12586771, ss13346913, ss16920657, ss17715828, ss21858278, ss22886943, ss44314521, ss69367700, ss71646231, ss99307583, ss105109904, ss105434871, ss157034570 NT_011519.10:3102101:A:G NC_000022.11:19962428:A:G (self)
47817756, ss3940640362 NC_000022.10:19949951:A:T NC_000022.11:19962428:A:T (self)
Help

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

79 citations for rs6269
PMID Title Author Year Journal
16848906 Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans. Kim H et al. 2006 Molecular pain
16882734 Genetic predictors for acute experimental cold and heat pain sensitivity in humans. Kim H et al. 2006 Journal of medical genetics
17961261 Catechol-O-methyltransferase gene haplotypes in Mexican and Spanish patients with fibromyalgia. Vargas-Alarcón G et al. 2007 Arthritis research & therapy
18574484 The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase. Mukherjee N et al. 2010 Molecular psychiatry
18698234 The association of functional catechol-O-methyltransferase haplotypes with risk of Parkinson's disease, levodopa treatment response, and complications. Bialecka M et al. 2008 Pharmacogenetics and genomics
18802928 Association between catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in adults. Halleland H et al. 2009 American journal of medical genetics. Part B, Neuropsychiatric genetics
19094200 Genetic variation in the catechol-O-methyltransferase (COMT) gene and morphine requirements in cancer patients with pain. Rakvåg TT et al. 2008 Molecular pain
19193196 Genetic contributions to pain: a review of findings in humans. Fillingim RB et al. 2008 Oral diseases
19290789 Association studies of catechol-O-methyltransferase (COMT) gene with schizophrenia and response to antipsychotic treatment. Gupta M et al. 2009 Pharmacogenomics
19605537 Effects of catechol-O-methyltransferase on normal variation in the cognitive function of children. Barnett JH et al. 2009 The American journal of psychiatry
19772600 A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data. Huang LC et al. 2009 Journal of translational medicine
20531207 The impact of catechol-O-methyltransferase SNPs and haplotypes on treatment response phenotypes in major depressive disorder: a case-control association study. Kocabas NA et al. 2010 International clinical psychopharmacology
20570835 No evidence for a role of the catechol-O-methyltransferase pain sensitivity haplotypes in chronic widespread pain. Nicholl BI et al. 2010 Annals of the rheumatic diseases
20627703 The association of single nucleotide polymorphisms in the catechol-O-methyltransferase gene and pain scores in female patients with major depressive disorder. Fijal B et al. 2010 The journal of pain
20842020 Catecholamine-o-methyltransferase polymorphisms are associated with postoperative pain intensity. Lee PJ et al. 2011 The Clinical journal of pain
20863768 Association of catechol-O-methyltransferase genetic variants with outcome in patients undergoing surgical treatment for lumbar degenerative disc disease. Dai F et al. 2010 The spine journal
21197301 Recent advances in the use of opioids for cancer pain. Droney J et al. 2009 Journal of pain research
21225419 Gene-environment interactions: early life stress and risk for depressive and anxiety disorders. Nugent NR et al. 2011 Psychopharmacology
21289622 Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. Sadee W et al. 2011 Clinical pharmacology and therapeutics
21300128 COMT Val158Met variant and functional haplotypes associated with childhood ADHD history in women with bulimia nervosa. Yilmaz Z et al. 2011 Progress in neuro-psychopharmacology & biological psychiatry
21304959 Epistasis between COMT and MTHFR in maternal-fetal dyads increases risk for preeclampsia. Hill LD et al. 2011 PloS one
21355050 A low COMT activity haplotype is associated with recurrent preeclampsia in a Norwegian population cohort (HUNT2). Roten LT et al. 2011 Molecular human reproduction
21423693 Effect sizes in experimental pain produced by gender, genetic variants and sensitization procedures. Doehring A et al. 2011 PloS one
21462137 [An association study of COMT gene polymorphisms with schizophrenia]. KONG FZ et al. 2011 Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
21527290 Psychopathological aspects of dopaminergic gene polymorphisms in adolescence and young adulthood. Nemoda Z et al. 2011 Neuroscience and biobehavioral reviews
21940152 The impact of COMT gene polymorphisms on suicidality in treatment resistant major depressive disorder--a European multicenter study. Schosser A et al. 2012 European neuropsychopharmacology
22105624 The genetics of attention deficit/hyperactivity disorder in adults, a review. Franke B et al. 2012 Molecular psychiatry
22178088 Catechol-O-methyltransferase (COMT) single nucleotide polymorphisms and haplotypes are not major risk factors for polycystic ovary syndrome. Hill LD et al. 2012 Molecular and cellular endocrinology
22194877 Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding. Caputo V et al. 2011 PloS one
22348792 A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia. Vargas-Alarcon G et al. 2012 BMC musculoskeletal disorders
22451510 Catechol-o-methyltransferase gene and executive function in children with ADHD. Choudhry Z et al. 2014 Journal of attention disorders
22528689 Pain sensitivity in fibromyalgia is associated with catechol-O-methyltransferase (COMT) gene. Martínez-Jauand M et al. 2013 European journal of pain (London, England)
22623973 An improved PSO algorithm for generating protective SNP barcodes in breast cancer. Chuang LY et al. 2012 PloS one
22890010 Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson's disease. Białecka M et al. 2012 Pharmacogenetics and genomics
23178897 The catechol-O-methyltransferase gene (COMT) and cognitive function from childhood through adolescence. Gaysina D et al. 2013 Biological psychology
23766564 Pharmacogenetics of chronic pain and its treatment. Světlík S et al. 2013 Mediators of inflammation
24178190 Influence of variation in the catechol-O-methyltransferase gene on the clinical outcome after lumbar spine surgery for one-level symptomatic disc disease: a report on 176 cases. Rut M et al. 2014 Acta neurochirurgica
24684248 Functional polymorphisms in COMT and SLC6A4 genes influence the prognosis of patients with medication overuse headache after withdrawal therapy. Cargnin S et al. 2014 European journal of neurology
24755993 Therapygenetics in mindfulness-based cognitive therapy: do genes have an impact on therapy-induced change in real-life positive affective experiences? Bakker JM et al. 2014 Translational psychiatry
24782743 Association of COMT and COMT-DRD2 interaction with creative potential. Zhang S et al. 2014 Frontiers in human neuroscience
25040948 The design and methods of genetic studies on acute and chronic postoperative pain in patients after total knee replacement. Belfer I et al. 2014 Pain medicine (Malden, Mass.)
25218601 Epistasis between polymorphisms in COMT, ESR1, and GCH1 influences COMT enzyme activity and pain. Smith SB et al. 2014 Pain
25532715 COMT gene haplotypes are closely associated with postoperative fentanyl dose in patients. Zhang F et al. 2015 Anesthesia and analgesia
25599448 Association of functional variations in COMT and GCH1 genes with postherniotomy pain and related impairment. Belfer I et al. 2015 Pain
25772090 Catechol-O-methyltransferase (COMT) gene polymorphisms are associated with baseline disability but not long-term treatment outcome in patients with chronic low back pain. Omair A et al. 2015 European spine journal
26282453 Association studies of genomic variants with treatment response to risperidone, clozapine, quetiapine and chlorpromazine in the Chinese Han population. Xu Q et al. 2016 The pharmacogenomics journal
26483654 Linking unfounded beliefs to genetic dopamine availability. Schmack K et al. 2015 Frontiers in human neuroscience
26849490 Association between catechol-O-methyl transferase gene polymorphisms and fibromyalgia in a Korean population: A case-control study. Park DJ et al. 2016 European journal of pain (London, England)
27028297 A Complex Systems Approach to Causal Discovery in Psychiatry. Saxe GN et al. 2016 PloS one
27294121 Detecting Susceptibility to Breast Cancer with SNP-SNP Interaction Using BPSOHS and Emotional Neural Networks. Wang X et al. 2016 BioMed research international
27636225 An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine. Mnika K et al. 2016 Omics
27903758 OPRM1 and COMT Gene-Gene Interaction Is Associated With Postoperative Pain and Opioid Consumption After Orthopedic Trauma. Khalil H et al. 2017 Biological research for nursing
28451382 Roles of functional catechol-O-methyltransferase genotypes in Chinese patients with Parkinson's disease. Xiao Q et al. 2017 Translational neurodegeneration
28740224 Depression and Catechol-O-methyltransferase (COMT) genetic variants are associated with pain in Parkinson's disease. Lin CH et al. 2017 Scientific reports
28822116 Interactions Between Variation in Candidate Genes and Environmental Factors in the Etiology of Schizophrenia and Bipolar Disorder: a Systematic Review. Misiak B et al. 2018 Molecular neurobiology
28927418 A systematic review and integrative approach to decode the common molecular link between levodopa response and Parkinson's disease. Guin D et al. 2017 BMC medical genomics
29195501 COMT genotype and non-recovery after a whiplash injury in a Northern European population. Rydman E et al. 2017 BMC musculoskeletal disorders
29205277 Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon. Wonkam A et al. 2018 British journal of haematology
29330410 The Impact of COMT and Childhood Maltreatment on Suicidal Behaviour in Affective Disorders. Bernegger A et al. 2018 Scientific reports
29331705 Catechol O-methyltransferase (COMT) functional haplotype is associated with recurrence of affective symptoms: A prospective birth cohort study. Koike S et al. 2018 Journal of affective disorders
29439855 Catechol-O-methyltransferase (COMT) genetic variants are associated with cognitive decline in patients with Parkinson's disease. Lin CH et al. 2018 Parkinsonism & related disorders
29550002 Pulp Sensitivity: Influence of Sex, Psychosocial Variables, COMT Gene, and Chronic Facial Pain. Mladenovic I et al. 2018 Journal of endodontics
29559808 Association of genetic variation in <i>COMT</i> gene with pain related to sickle cell disease in patients from the walk-PHaSST study. Zhang Y et al. 2018 Journal of pain research
29760667 A <i>DRD2/ANNK1</i>-<i>COMT</i> Interaction, Consisting of Functional Variants, Confers Risk of Post-traumatic Stress Disorder in Traumatized Chinese. Zhang K et al. 2018 Frontiers in psychiatry
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30811655 The association of genetic polymorphisms in serotonin transporter and catechol-O-methyltransferase on temporomandibular disorders and anxiety in adolescents. Brancher JA et al. 2019 Journal of oral rehabilitation
30822160 Association of COMT gene variability with pain intensity in patients after total hip replacement. Machoy-Mokrzyńska A et al. 2019 Scandinavian journal of clinical and laboratory investigation
30886988 Association of Catechol-<i>O</i>-methyltransferase single nucleotide polymorphisms, ethnicity, and sex in a large cohort of fibromyalgia patients. Lee C et al. 2018 BMC rheumatology
31033149 Genetic influences on the variability of response to repetitive transcranial magnetic stimulation in human pharyngeal motor cortex. Raginis-Zborowska A et al. 2019 Neurogastroenterology and motility
31129315 Systematic Review and Meta-Analysis of Genetic Risk of Developing Chronic Postsurgical Pain. Chidambaran V et al. 2020 The journal of pain
31285095 Evaluation of genetic risk related to catechol-O-methyltransferase (COMT) and β2-adrenergic receptor (ADRB2) activity in different diagnostic subgroups of temporomandibular disorder in Brazilian patients. de Souza Tesch R et al. 2020 International journal of oral and maxillofacial surgery
31806881 OPRM1, OPRK1, and COMT genetic polymorphisms associated with opioid effects on experimental pain: a randomized, double-blind, placebo-controlled study. Ho KWD et al. 2020 The pharmacogenomics journal
32034175 COMT-Polymorphisms Modulated Functional Profile of the Fusiform Face Area Contributes to Face-Specific Recognition Ability. Wu C et al. 2020 Scientific reports
32217888 Genetic predictors to acupuncture response for hot flashes: an exploratory study of breast cancer survivors. Romero SAD et al. 2020 Menopause (New York, N.Y.)
32471213 Bruxism Throughout the Lifespan and Variants in <i>MMP2</i>, <i>MMP9</i> and <i>COMT</i>. Vieira AR et al. 2020 Journal of personalized medicine
32961632 Is catechol-O-methyltransferase gene associated with temporomandibular disorders? A systematic review and meta-analysis. Brancher JA et al. 2021 International journal of paediatric dentistry
33303340 OXTR rs53576 Variation with Breast and Nipple Pain in Breastfeeding Women. Lucas R et al. 2021 Pain management nursing
33400997 Sensory and Psychological Factors Predict Exercise-Induced Shoulder Injury Responses in a High-Risk Phenotype Cohort. Butera KA et al. 2021 The journal of pain
33453563 Association between COMT methylation and response to treatment in children with ADHD. Fageera W et al. 2021 Journal of psychiatric research
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.post629+eb05767