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)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
COMT : Intron VariantMIR4761 : 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.
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 |
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").
DownloadStudy | 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 |
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.
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 |
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 |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
MIR4761 transcript | NR_039918.1:n. | N/A | 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.
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 |
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#.
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) |
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) |
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) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
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 |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.
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.