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.
rs4633
Current Build 155
Released April 9, 2021
- Organism
- Homo sapiens
- Position
-
chr22:19962712 (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>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.427413 (113132/264690, TOPMED)T=0.463452 (115901/250082, GnomAD_exome)T=0.492454 (83865/170300, ALFA) (+ 24 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
COMT : Synonymous VariantMIR4761 : 2KB Upstream Variant
- Publications
- 110 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 | 170300 | C=0.507546 | T=0.492454 |
| European | Sub | 142828 | C=0.493482 | T=0.506518 |
| African | Sub | 7428 | C=0.6672 | T=0.3328 |
| African Others | Sub | 234 | C=0.709 | T=0.291 |
| African American | Sub | 7194 | C=0.6658 | T=0.3342 |
| Asian | Sub | 554 | C=0.740 | T=0.260 |
| East Asian | Sub | 426 | C=0.709 | T=0.291 |
| Other Asian | Sub | 128 | C=0.844 | T=0.156 |
| Latin American 1 | Sub | 1090 | C=0.5817 | T=0.4183 |
| Latin American 2 | Sub | 7110 | C=0.5842 | T=0.4158 |
| South Asian | Sub | 174 | C=0.511 | T=0.489 |
| Other | Sub | 11116 | C=0.51358 | T=0.48642 |
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 | C=0.572587 | T=0.427413 |
| gnomAD - Exomes | Global | Study-wide | 250082 | C=0.536548 | T=0.463452 |
| gnomAD - Exomes | European | Sub | 134368 | C=0.477070 | T=0.522930 |
| gnomAD - Exomes | Asian | Sub | 48954 | C=0.61834 | T=0.38166 |
| gnomAD - Exomes | American | Sub | 34478 | C=0.59467 | T=0.40533 |
| gnomAD - Exomes | African | Sub | 16136 | C=0.66770 | T=0.33230 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10036 | C=0.53049 | T=0.46951 |
| gnomAD - Exomes | Other | Sub | 6110 | C=0.5249 | T=0.4751 |
| Allele Frequency Aggregator | Total | Global | 170300 | C=0.507546 | T=0.492454 |
| Allele Frequency Aggregator | European | Sub | 142828 | C=0.493482 | T=0.506518 |
| Allele Frequency Aggregator | Other | Sub | 11116 | C=0.51358 | T=0.48642 |
| Allele Frequency Aggregator | African | Sub | 7428 | C=0.6672 | T=0.3328 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 7110 | C=0.5842 | T=0.4158 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1090 | C=0.5817 | T=0.4183 |
| Allele Frequency Aggregator | Asian | Sub | 554 | C=0.740 | T=0.260 |
| Allele Frequency Aggregator | South Asian | Sub | 174 | C=0.511 | T=0.489 |
| gnomAD - Genomes | Global | Study-wide | 140080 | C=0.553027 | T=0.446973 |
| gnomAD - Genomes | European | Sub | 75866 | C=0.47440 | T=0.52560 |
| gnomAD - Genomes | African | Sub | 41968 | C=0.66818 | T=0.33182 |
| gnomAD - Genomes | American | Sub | 13648 | C=0.59152 | T=0.40848 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | C=0.5452 | T=0.4548 |
| gnomAD - Genomes | East Asian | Sub | 3128 | C=0.7340 | T=0.2660 |
| gnomAD - Genomes | Other | Sub | 2150 | C=0.5842 | T=0.4158 |
| ExAC | Global | Study-wide | 119750 | C=0.532033 | T=0.467967 |
| ExAC | Europe | Sub | 72204 | C=0.47641 | T=0.52359 |
| ExAC | Asian | Sub | 25028 | C=0.60820 | T=0.39180 |
| ExAC | American | Sub | 11422 | C=0.59709 | T=0.40291 |
| ExAC | African | Sub | 10206 | C=0.66676 | T=0.33324 |
| ExAC | Other | Sub | 890 | C=0.522 | T=0.478 |
| The PAGE Study | Global | Study-wide | 78188 | C=0.64204 | T=0.35796 |
| The PAGE Study | AfricanAmerican | Sub | 32204 | C=0.66616 | T=0.33384 |
| The PAGE Study | Mexican | Sub | 10782 | C=0.59293 | T=0.40707 |
| The PAGE Study | Asian | Sub | 8266 | C=0.6953 | T=0.3047 |
| The PAGE Study | PuertoRican | Sub | 7886 | C=0.5970 | T=0.4030 |
| The PAGE Study | NativeHawaiian | Sub | 4502 | C=0.7332 | T=0.2668 |
| The PAGE Study | Cuban | Sub | 4212 | C=0.5883 | T=0.4117 |
| The PAGE Study | Dominican | Sub | 3814 | C=0.6088 | T=0.3912 |
| The PAGE Study | CentralAmerican | Sub | 2444 | C=0.5810 | T=0.4190 |
| The PAGE Study | SouthAmerican | Sub | 1976 | C=0.6022 | T=0.3978 |
| The PAGE Study | NativeAmerican | Sub | 1256 | C=0.5677 | T=0.4323 |
| The PAGE Study | SouthAsian | Sub | 846 | C=0.561 | T=0.439 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.69415 | T=0.30585 |
| GO Exome Sequencing Project | Global | Study-wide | 13004 | C=0.53991 | T=0.46009 |
| GO Exome Sequencing Project | European American | Sub | 8600 | C=0.4771 | T=0.5229 |
| GO Exome Sequencing Project | African American | Sub | 4404 | C=0.6626 | T=0.3374 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.6284 | T=0.3716 |
| 1000Genomes | African | Sub | 1322 | C=0.7065 | T=0.2935 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.7302 | T=0.2698 |
| 1000Genomes | Europe | Sub | 1006 | C=0.5010 | T=0.4990 |
| 1000Genomes | South Asian | Sub | 978 | C=0.555 | T=0.445 |
| 1000Genomes | American | Sub | 694 | C=0.620 | T=0.380 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.4513 | T=0.5487 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.4862 | T=0.5138 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.5000 | T=0.5000 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2928 | C=0.7220 | T=0.2780 |
| PharmGKB Aggregated | Global | Study-wide | 2658 | C=0.4895 | T=0.5105 |
| PharmGKB Aggregated | PA156001462 | Sub | 2418 | C=0.4760 | T=0.5240 |
| PharmGKB Aggregated | PA137868583 | Sub | 240 | C=0.625 | T=0.375 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.7380 | T=0.2620 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.481 | T=0.519 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 762 | C=0.766 | T=0.234 |
| CNV burdens in cranial meningiomas | CRM | Sub | 762 | C=0.766 | T=0.234 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 609 | C=0.755 | T=0.245 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.463 | T=0.537 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.605 | T=0.395 |
| SGDP_PRJ | Global | Study-wide | 340 | C=0.347 | T=0.653 |
| FINRISK | Finnish from FINRISK project | Study-wide | 296 | C=0.453 | T=0.547 |
| Qatari | Global | Study-wide | 216 | C=0.463 | T=0.537 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 70 | C=0.40 | T=0.60 |
| Siberian | Global | Study-wide | 42 | C=0.33 | T=0.67 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.30 | T=0.70 |
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.19962712C>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.19950235C>T |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.25973C>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| COMT transcript variant 3 | NM_001135162.2:c.186C>T | H [CAC] > H [CAT] | Coding Sequence Variant |
| catechol O-methyltransferase isoform MB-COMT | NP_001128634.1:p.His62= | H (His) > H (His) | Synonymous Variant |
| COMT transcript variant 2 | NM_001135161.2:c.186C>T | H [CAC] > H [CAT] | Coding Sequence Variant |
| catechol O-methyltransferase isoform MB-COMT | NP_001128633.1:p.His62= | H (His) > H (His) | Synonymous Variant |
| COMT transcript variant 5 | NM_001362828.2:c.186C>T | H [CAC] > H [CAT] | Coding Sequence Variant |
| catechol O-methyltransferase isoform MB-COMT | NP_001349757.1:p.His62= | H (His) > H (His) | Synonymous Variant |
| COMT transcript variant 4 | NM_007310.3:c.36C>T | H [CAC] > H [CAT] | Coding Sequence Variant |
| catechol O-methyltransferase isoform S-COMT | NP_009294.1:p.His12= | H (His) > H (His) | Synonymous Variant |
| COMT transcript variant 1 | NM_000754.4:c.186C>T | H [CAC] > H [CAT] | Coding Sequence Variant |
| catechol O-methyltransferase isoform MB-COMT | NP_000745.1:p.His62= | H (His) > H (His) | Synonymous 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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000249561.1 | not specified | Benign |
| RCV001028888.1 | Tramadol response | Drug-Response |
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= | T |
|---|---|---|
| GRCh38.p13 chr 22 | NC_000022.11:g.19962712= | NC_000022.11:g.19962712C>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.19950235= | NC_000022.10:g.19950235C>T |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.25973= | NG_011526.1:g.25973C>T |
| COMT transcript variant 1 | NM_000754.4:c.186= | NM_000754.4:c.186C>T |
| COMT transcript variant 1 | NM_000754.3:c.186= | NM_000754.3:c.186C>T |
| COMT transcript variant 4 | NM_007310.3:c.36= | NM_007310.3:c.36C>T |
| COMT transcript variant 4 | NM_007310.2:c.36= | NM_007310.2:c.36C>T |
| COMT transcript variant 5 | NM_001362828.2:c.186= | NM_001362828.2:c.186C>T |
| COMT transcript variant 5 | NM_001362828.1:c.186= | NM_001362828.1:c.186C>T |
| COMT transcript variant 2 | NM_001135161.2:c.186= | NM_001135161.2:c.186C>T |
| COMT transcript variant 2 | NM_001135161.1:c.186= | NM_001135161.1:c.186C>T |
| COMT transcript variant 3 | NM_001135162.2:c.186= | NM_001135162.2:c.186C>T |
| COMT transcript variant 3 | NM_001135162.1:c.186= | NM_001135162.1:c.186C>T |
| catechol O-methyltransferase isoform MB-COMT | NP_000745.1:p.His62= | NP_000745.1:p.His62= |
| catechol O-methyltransferase isoform S-COMT | NP_009294.1:p.His12= | NP_009294.1:p.His12= |
| catechol O-methyltransferase isoform MB-COMT | NP_001349757.1:p.His62= | NP_001349757.1:p.His62= |
| catechol O-methyltransferase isoform MB-COMT | NP_001128633.1:p.His62= | NP_001128633.1:p.His62= |
| catechol O-methyltransferase isoform MB-COMT | NP_001128634.1:p.His62= | NP_001128634.1:p.His62= |
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 | ss7894 | Sep 19, 2000 (52) |
| 2 | CGAP-GAI | ss9560 | Sep 19, 2000 (52) |
| 3 | TSC-CSHL | ss106161 | Oct 05, 2000 (92) |
| 4 | KWOK | ss232567 | Jul 12, 2000 (87) |
| 5 | SC | ss459083 | Jul 12, 2000 (87) |
| 6 | SC_JCM | ss537390 | Jul 16, 2000 (87) |
| 7 | KWOK | ss1058119 | Oct 04, 2000 (87) |
| 8 | KWOK | ss1750405 | Oct 18, 2000 (87) |
| 9 | AFFX | ss2982267 | Jun 15, 2001 (100) |
| 10 | YUSUKE | ss3194614 | Aug 15, 2001 (98) |
| 11 | LEE | ss4401653 | May 29, 2002 (106) |
| 12 | LEE | ss4437838 | May 29, 2002 (106) |
| 13 | RIKENSNPRC | ss6311514 | Feb 20, 2003 (111) |
| 14 | SNP500CANCER | ss6903717 | Mar 31, 2003 (113) |
| 15 | HG_BONN_CNS_SNPS | ss12586772 | Aug 26, 2003 (117) |
| 16 | EGP_SNPS | ss12673754 | Dec 05, 2003 (119) |
| 17 | SC_SNP | ss13346914 | Dec 05, 2003 (119) |
| 18 | SSAHASNP | ss21856914 | Apr 05, 2004 (121) |
| 19 | IMCJ-GDT | ss22886944 | Apr 05, 2004 (121) |
| 20 | PERLEGEN | ss24702129 | Sep 20, 2004 (123) |
| 21 | ABI | ss44321755 | Mar 11, 2006 (126) |
| 22 | APPLERA_GI | ss48413545 | Mar 11, 2006 (126) |
| 23 | KRIBB_YJKIM | ss65824276 | Nov 30, 2006 (127) |
| 24 | AFFY | ss66251088 | Nov 30, 2006 (127) |
| 25 | PHARMGKB_PPII | ss69367701 | May 17, 2007 (127) |
| 26 | SI_EXO | ss71645653 | May 17, 2007 (127) |
| 27 | ILLUMINA | ss75254687 | Dec 06, 2007 (129) |
| 28 | AFFY | ss76396340 | Dec 06, 2007 (129) |
| 29 | KRIBB_YJKIM | ss81404112 | Dec 15, 2007 (130) |
| 30 | BCMHGSC_JDW | ss91877544 | Mar 24, 2008 (129) |
| 31 | HUMANGENOME_JCVI | ss96092644 | Feb 06, 2009 (130) |
| 32 | SHGC | ss99307584 | Feb 06, 2009 (130) |
| 33 | PHARMGKB_PPII | ss105109905 | Feb 06, 2009 (130) |
| 34 | 1000GENOMES | ss112551457 | Jan 25, 2009 (130) |
| 35 | ENSEMBL | ss138335197 | Dec 01, 2009 (131) |
| 36 | ENSEMBL | ss142884115 | Dec 01, 2009 (131) |
| 37 | GMI | ss157034576 | Dec 01, 2009 (131) |
| 38 | SEATTLESEQ | ss159743875 | Dec 01, 2009 (131) |
| 39 | ILLUMINA | ss160692506 | Dec 01, 2009 (131) |
| 40 | COMPLETE_GENOMICS | ss171832761 | Jul 04, 2010 (132) |
| 41 | AFFY | ss173468326 | Jul 04, 2010 (132) |
| 42 | ILLUMINA | ss173764533 | Jul 04, 2010 (132) |
| 43 | BUSHMAN | ss204050442 | Jul 04, 2010 (132) |
| 44 | BCM-HGSC-SUB | ss208820822 | Jul 04, 2010 (132) |
| 45 | 1000GENOMES | ss228618138 | Jul 14, 2010 (132) |
| 46 | 1000GENOMES | ss238022299 | Jul 15, 2010 (132) |
| 47 | 1000GENOMES | ss244151657 | Jul 15, 2010 (132) |
| 48 | ILLUMINA | ss244300287 | Jul 04, 2010 (132) |
| 49 | GMI | ss283587216 | May 04, 2012 (137) |
| 50 | GMI | ss287550244 | Apr 25, 2013 (138) |
| 51 | PJP | ss292736316 | May 09, 2011 (134) |
| 52 | NHLBI-ESP | ss342536605 | May 09, 2011 (134) |
| 53 | ILLUMINA | ss410934497 | Sep 17, 2011 (135) |
| 54 | ILLUMINA | ss480984712 | May 04, 2012 (137) |
| 55 | ILLUMINA | ss481005258 | May 04, 2012 (137) |
| 56 | ILLUMINA | ss481984179 | Sep 08, 2015 (146) |
| 57 | ILLUMINA | ss485287283 | May 04, 2012 (137) |
| 58 | 1000GENOMES | ss491188308 | May 04, 2012 (137) |
| 59 | CLINSEQ_SNP | ss491819525 | May 04, 2012 (137) |
| 60 | TISHKOFF | ss566560782 | Apr 25, 2013 (138) |
| 61 | SSMP | ss662483740 | Apr 25, 2013 (138) |
| 62 | ILLUMINA | ss783089537 | Sep 08, 2015 (146) |
| 63 | ILLUMINA | ss832347994 | Sep 08, 2015 (146) |
| 64 | JMKIDD_LAB | ss974512058 | Aug 21, 2014 (142) |
| 65 | EVA-GONL | ss995222787 | Aug 21, 2014 (142) |
| 66 | JMKIDD_LAB | ss1067603851 | Aug 21, 2014 (142) |
| 67 | JMKIDD_LAB | ss1082570458 | Aug 21, 2014 (142) |
| 68 | 1000GENOMES | ss1366683075 | Aug 21, 2014 (142) |
| 69 | DDI | ss1429219781 | Apr 01, 2015 (144) |
| 70 | EVA_GENOME_DK | ss1579704262 | Apr 01, 2015 (144) |
| 71 | EVA_FINRISK | ss1584126408 | Apr 01, 2015 (144) |
| 72 | EVA_UK10K_ALSPAC | ss1639753927 | Apr 01, 2015 (144) |
| 73 | EVA_UK10K_TWINSUK | ss1682747960 | Apr 01, 2015 (144) |
| 74 | EVA_EXAC | ss1694228849 | Apr 01, 2015 (144) |
| 75 | EVA_DECODE | ss1699291890 | Apr 01, 2015 (144) |
| 76 | EVA_MGP | ss1711560470 | Apr 01, 2015 (144) |
| 77 | EVA_SVP | ss1713731243 | Apr 01, 2015 (144) |
| 78 | ILLUMINA | ss1752413965 | Sep 08, 2015 (146) |
| 79 | WEILL_CORNELL_DGM | ss1938784386 | Feb 12, 2016 (147) |
| 80 | ILLUMINA | ss1959965698 | Feb 12, 2016 (147) |
| 81 | GENOMED | ss1969246875 | Jul 19, 2016 (147) |
| 82 | JJLAB | ss2030165207 | Sep 14, 2016 (149) |
| 83 | USC_VALOUEV | ss2158775164 | Dec 20, 2016 (150) |
| 84 | HUMAN_LONGEVITY | ss2246456938 | Dec 20, 2016 (150) |
| 85 | TOPMED | ss2413283818 | Dec 20, 2016 (150) |
| 86 | SYSTEMSBIOZJU | ss2629580753 | Nov 08, 2017 (151) |
| 87 | ILLUMINA | ss2633862763 | Nov 08, 2017 (151) |
| 88 | GRF | ss2704518119 | Nov 08, 2017 (151) |
| 89 | GNOMAD | ss2744959884 | Nov 08, 2017 (151) |
| 90 | GNOMAD | ss2750498409 | Nov 08, 2017 (151) |
| 91 | GNOMAD | ss2972986201 | Nov 08, 2017 (151) |
| 92 | AFFY | ss2985850700 | Nov 08, 2017 (151) |
| 93 | SWEGEN | ss3019086357 | Nov 08, 2017 (151) |
| 94 | ILLUMINA | ss3022171885 | Nov 08, 2017 (151) |
| 95 | EVA_SAMSUNG_MC | ss3023073333 | Nov 08, 2017 (151) |
| 96 | BIOINF_KMB_FNS_UNIBA | ss3028920318 | Nov 08, 2017 (151) |
| 97 | CSHL | ss3352776488 | Nov 08, 2017 (151) |
| 98 | TOPMED | ss3374060861 | Nov 08, 2017 (151) |
| 99 | ILLUMINA | ss3633984248 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3634860938 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3635668886 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3636556575 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3637421078 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3638374436 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3640568239 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3641136367 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3641432752 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3643334844 | Oct 12, 2018 (152) |
| 109 | OMUKHERJEE_ADBS | ss3646561240 | Oct 12, 2018 (152) |
| 110 | URBANLAB | ss3651151883 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3652633437 | Oct 12, 2018 (152) |
| 112 | EGCUT_WGS | ss3685618858 | Jul 13, 2019 (153) |
| 113 | EVA_DECODE | ss3707954942 | Jul 13, 2019 (153) |
| 114 | ACPOP | ss3743823275 | Jul 13, 2019 (153) |
| 115 | ILLUMINA | ss3745160769 | Jul 13, 2019 (153) |
| 116 | EVA | ss3759230907 | Jul 13, 2019 (153) |
| 117 | PAGE_CC | ss3772082264 | Jul 13, 2019 (153) |
| 118 | ILLUMINA | ss3772656752 | Jul 13, 2019 (153) |
| 119 | PACBIO | ss3788793359 | Jul 13, 2019 (153) |
| 120 | PACBIO | ss3793664451 | Jul 13, 2019 (153) |
| 121 | PACBIO | ss3798550776 | Jul 13, 2019 (153) |
| 122 | KHV_HUMAN_GENOMES | ss3822398799 | Jul 13, 2019 (153) |
| 123 | EVA | ss3825423892 | Apr 27, 2020 (154) |
| 124 | EVA | ss3825534087 | Apr 27, 2020 (154) |
| 125 | EVA | ss3825548347 | Apr 27, 2020 (154) |
| 126 | EVA | ss3825965505 | Apr 27, 2020 (154) |
| 127 | EVA | ss3835927798 | Apr 27, 2020 (154) |
| 128 | EVA | ss3841592399 | Apr 27, 2020 (154) |
| 129 | EVA | ss3847107059 | Apr 27, 2020 (154) |
| 130 | SGDP_PRJ | ss3890256781 | Apr 27, 2020 (154) |
| 131 | KRGDB | ss3940640369 | Apr 27, 2020 (154) |
| 132 | KOGIC | ss3983389633 | Apr 27, 2020 (154) |
| 133 | FSA-LAB | ss3984229790 | Apr 26, 2021 (155) |
| 134 | EVA | ss3984758323 | Apr 26, 2021 (155) |
| 135 | EVA | ss3985910176 | Apr 26, 2021 (155) |
| 136 | EVA | ss3986086720 | Apr 26, 2021 (155) |
| 137 | EVA | ss3986853407 | Apr 26, 2021 (155) |
| 138 | EVA | ss4017873649 | Apr 26, 2021 (155) |
| 139 | EVA | ss4381335188 | Apr 26, 2021 (155) |
| 140 | TOPMED | ss5105107649 | Apr 26, 2021 (155) |
| 141 | TOMMO_GENOMICS | ss5232040510 | Apr 26, 2021 (155) |
| 142 | EVA | ss5236988672 | Apr 26, 2021 (155) |
| 143 | EVA | ss5237254839 | Apr 26, 2021 (155) |
| 144 | EVA | ss5237615141 | Apr 26, 2021 (155) |
| 145 | 1000Genomes | NC_000022.10 - 19950235 | Oct 12, 2018 (152) |
| 146 | The Avon Longitudinal Study of Parents and Children | NC_000022.10 - 19950235 | Oct 12, 2018 (152) |
| 147 | Genetic variation in the Estonian population | NC_000022.10 - 19950235 | Oct 12, 2018 (152) |
| 148 | ExAC | NC_000022.10 - 19950235 | Oct 12, 2018 (152) |
| 149 | FINRISK | NC_000022.10 - 19950235 | Apr 27, 2020 (154) |
| 150 | The Danish reference pan genome | NC_000022.10 - 19950235 | Apr 27, 2020 (154) |
| 151 | gnomAD - Genomes | NC_000022.11 - 19962712 | Apr 26, 2021 (155) |
| 152 | gnomAD - Exomes | NC_000022.10 - 19950235 | Jul 13, 2019 (153) |
| 153 | GO Exome Sequencing Project | NC_000022.10 - 19950235 | Oct 12, 2018 (152) |
| 154 | Genome of the Netherlands Release 5 | NC_000022.10 - 19950235 | Apr 27, 2020 (154) |
| 155 | KOREAN population from KRGDB | NC_000022.10 - 19950235 | Apr 27, 2020 (154) |
| 156 | Korean Genome Project | NC_000022.11 - 19962712 | Apr 27, 2020 (154) |
| 157 | Medical Genome Project healthy controls from Spanish population | NC_000022.10 - 19950235 | Apr 27, 2020 (154) |
| 158 | Northern Sweden | NC_000022.10 - 19950235 | Jul 13, 2019 (153) |
| 159 | The PAGE Study | NC_000022.11 - 19962712 | Jul 13, 2019 (153) |
| 160 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000022.10 - 19950235 | Apr 26, 2021 (155) |
| 161 | CNV burdens in cranial meningiomas | NC_000022.10 - 19950235 | Apr 26, 2021 (155) |
| 162 | PharmGKB Aggregated | NC_000022.11 - 19962712 | Apr 27, 2020 (154) |
| 163 | Qatari | NC_000022.10 - 19950235 | Apr 27, 2020 (154) |
| 164 | SGDP_PRJ | NC_000022.10 - 19950235 | Apr 27, 2020 (154) |
| 165 | Siberian | NC_000022.10 - 19950235 | Apr 27, 2020 (154) |
| 166 | 8.3KJPN | NC_000022.10 - 19950235 | Apr 26, 2021 (155) |
| 167 | TopMed | NC_000022.11 - 19962712 | Apr 26, 2021 (155) |
| 168 | UK 10K study - Twins | NC_000022.10 - 19950235 | Oct 12, 2018 (152) |
| 169 | A Vietnamese Genetic Variation Database | NC_000022.10 - 19950235 | Jul 13, 2019 (153) |
| 170 | ALFA | NC_000022.11 - 19962712 | Apr 26, 2021 (155) |
| 171 | ClinVar | RCV000249561.1 | Oct 12, 2018 (152) |
| 172 | ClinVar | RCV001028888.1 | Apr 27, 2020 (154) |
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) |
|---|---|
| rs4906 | Oct 23, 2000 (87) |
| rs165735 | Sep 19, 2000 (85) |
| rs752985 | Jan 18, 2001 (92) |
| rs2070105 | Sep 28, 2001 (100) |
| rs3171582 | Jul 03, 2002 (106) |
| rs17349382 | Mar 11, 2006 (126) |
| rs17818166 | Oct 07, 2004 (123) |
| rs58430367 | Feb 27, 2009 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss66251088, ss76396340, ss91877544, ss112551457, ss171832761, ss173468326, ss204050442, ss208820822, ss283587216, ss287550244, ss292736316, ss480984712, ss491819525, ss1699291890, ss1713731243, ss3643334844 | NC_000022.9:18330234:C:T | NC_000022.11:19962711:C:T | (self) |
| 80217506, 44381996, 31357106, 5801063, 122869, 5869201, 14289369, 1880750, 19773896, 47817763, 676230, 17108140, 1136103, 307904, 20826308, 42273761, 11291518, 90009817, 44381996, 9792530, ss228618138, ss238022299, ss244151657, ss342536605, ss481005258, ss481984179, ss485287283, ss491188308, ss566560782, ss662483740, ss783089537, ss832347994, ss974512058, ss995222787, ss1067603851, ss1082570458, ss1366683075, ss1429219781, ss1579704262, ss1584126408, ss1639753927, ss1682747960, ss1694228849, ss1711560470, ss1752413965, ss1938784386, ss1959965698, ss1969246875, ss2030165207, ss2158775164, ss2413283818, ss2629580753, ss2633862763, ss2704518119, ss2744959884, ss2750498409, ss2972986201, ss2985850700, ss3019086357, ss3022171885, ss3023073333, ss3352776488, ss3633984248, ss3634860938, ss3635668886, ss3636556575, ss3637421078, ss3638374436, ss3640568239, ss3641136367, ss3641432752, ss3646561240, ss3652633437, ss3685618858, ss3743823275, ss3745160769, ss3759230907, ss3772656752, ss3788793359, ss3793664451, ss3798550776, ss3825423892, ss3825534087, ss3825548347, ss3825965505, ss3835927798, ss3841592399, ss3890256781, ss3940640369, ss3984229790, ss3984758323, ss3985910176, ss3986086720, ss3986853407, ss4017873649, ss5232040510, ss5237615141 | NC_000022.10:19950234:C:T | NC_000022.11:19962711:C:T | (self) |
| RCV000249561.1, RCV001028888.1, 566543606, 39767634, 1303733, 7566, 237443209, 380216596, 929729463, ss2246456938, ss3028920318, ss3374060861, ss3651151883, ss3707954942, ss3772082264, ss3822398799, ss3847107059, ss3983389633, ss4381335188, ss5105107649, ss5236988672, ss5237254839 | NC_000022.11:19962711:C:T | NC_000022.11:19962711:C:T | (self) |
| ss7894, ss9560, ss106161, ss232567, ss459083, ss537390, ss1058119, ss1750405, ss2982267, ss3194614, ss4401653, ss4437838, ss6311514, ss6903717, ss12586772, ss12673754, ss13346914, ss21856914, ss22886944, ss24702129, ss44321755, ss48413545, ss65824276, ss69367701, ss71645653, ss75254687, ss81404112, ss96092644, ss99307584, ss105109905, ss138335197, ss142884115, ss157034576, ss159743875, ss160692506, ss173764533, ss244300287, ss410934497 | NT_011519.10:3102384:C:T | NC_000022.11:19962711:C: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 |
|---|---|---|---|---|
| 12802784 | A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. | Bray NJ et al. | 2003 | American journal of human genetics |
| 15505638 | Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia. | Handoko HY et al. | 2005 | Molecular psychiatry |
| 16380905 | Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. | Fallin MD et al. | 2005 | American journal of human genetics |
| 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 |
| 17363961 | Clinical involvement of catechol-O-methyltransferase polymorphisms in schizophrenia spectrum disorders: influence on the severity of psychotic symptoms and on the response to neuroleptic treatment. | Molero P et al. | 2007 | The pharmacogenomics journal |
| 17961261 | Catechol-O-methyltransferase gene haplotypes in Mexican and Spanish patients with fibromyalgia. | Vargas-Alarcón G et al. | 2007 | Arthritis research & therapy |
| 18064318 | Catechol-O-methyltransferase genotype is associated with plasma total homocysteine levels and may increase venous thrombosis risk. | Gellekink H et al. | 2007 | Thrombosis and haemostasis |
| 18324659 | COMT polymorphisms affecting protein expression are risk factors for endometrial cancer. | Hirata H et al. | 2008 | Molecular carcinogenesis |
| 18389087 | Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing. | Kan T et al. | 2007 | Bioinformatics and biology insights |
| 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 |
| 18698231 | Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. | Johnson AD et al. | 2008 | Pharmacogenetics and genomics |
| 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 |
| 19015200 | Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer. | Freedman ND et al. | 2009 | Carcinogenesis |
| 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 |
| 19159868 | Evidence of epistasis between the catechol-O-methyltransferase and aldehyde dehydrogenase 3B1 genes in paranoid schizophrenia. | Wang Y et al. | 2009 | Biological psychiatry |
| 19168589 | Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China. | Park SK et al. | 2009 | Carcinogenesis |
| 19290789 | Association studies of catechol-O-methyltransferase (COMT) gene with schizophrenia and response to antipsychotic treatment. | Gupta M et al. | 2009 | Pharmacogenomics |
| 19365560 | Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs. | Nackley AG et al. | 2009 | PloS one |
| 19693267 | Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene. | Roe BE et al. | 2009 | PloS one |
| 19772600 | A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data. | Huang LC et al. | 2009 | Journal of translational medicine |
| 19852950 | The association of catechol-O-methyltransferase genotype with the phenotype of women with eating disorders. | Mikołajczyk E et al. | 2010 | Brain research |
| 20083391 | A reappraisal of the association between Dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry. | Strohmaier J et al. | 2010 | Schizophrenia research |
| 20483479 | Analysis of association between the catechol-O-methyltransferase (COMT) gene and negative symptoms in chronic schizophrenia. | Wang Y et al. | 2010 | Psychiatry research |
| 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 |
| 20551675 | Localizing putative markers in genetic association studies by incorporating linkage disequilibrium into bayesian hierarchical models. | Fridley BL et al. | 2010 | Human heredity |
| 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 |
| 20667552 | Catechol-o-methyltransferase gene modulation on suicidal behavior and personality traits: review, meta-analysis and association study. | Calati R et al. | 2011 | Journal of psychiatric research |
| 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 |
| 20877297 | Catechol O-methyltransferase pharmacogenomics and selective serotonin reuptake inhibitor response. | Ji Y et al. | 2012 | The pharmacogenomics journal |
| 21107304 | Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation. | Jacobson PA et al. | 2011 | Transplantation |
| 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 |
| 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 |
| 21570824 | Clinical and genetic factors associated with nausea and vomiting in cancer patients receiving opioids. | Laugsand EA et al. | 2011 | European journal of cancer (Oxford, England |
| 21680027 | Influence and interaction of genetic polymorphisms in catecholamine neurotransmitter systems and early life stress on antidepressant drug response. | Xu Z et al. | 2011 | Journal of affective disorders |
| 21708280 | Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. | Srivastava K et al. | 2011 | Mutation research |
| 21905019 | Large candidate gene association study reveals genetic risk factors and therapeutic targets for fibromyalgia. | Smith SB et al. | 2012 | Arthritis and rheumatism |
| 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 |
| 22253202 | Catechol-O-methyltransferase polymorphisms do not play a significant role in pain perception in male Chinese Han population. | Xiang X et al. | 2012 | Physiological genomics |
| 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) |
| 22701660 | Association of polymorphisms in oxidative stress genes with clinical outcomes for bladder cancer treated with Bacillus Calmette-Guérin. | Wei H 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 |
| 22939719 | Oxytocin and catechol-O-methyltransferase receptor genotype predict the length of the first stage of labor. | Terkawi AS et al. | 2012 | American journal of obstetrics and gynecology |
| 23209597 | Investigating the genetic basis of theory of mind (ToM): the role of catechol-O-methyltransferase (COMT) gene polymorphisms. | Xia H et al. | 2012 | PloS one |
| 23766564 | Pharmacogenetics of chronic pain and its treatment. | Světlík S et al. | 2013 | Mediators of inflammation |
| 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 |
| 23963787 | Complex multilocus effects of catechol-O-methyltransferase haplotypes predict pain and pain interference 6 weeks after motor vehicle collision. | Bortsov AV et al. | 2014 | Neuromolecular medicine |
| 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 |
| 24234932 | Association Between Catechol-O-Methyltransferase (COMT) Gene Polymorphisms, Parkinson's Disease, and Levodopa Efficacy. | Yin B et al. | 2013 | Molecular diagnosis & therapy |
| 24448899 | Metabolic syndrome in patients taking clozapine: prevalence and influence of catechol-O-methyltransferase genotype. | Zhang Y et al. | 2014 | Psychopharmacology |
| 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 |
| 24881125 | From pharmacogenetics to pharmacogenomics: the way toward the personalization of antidepressant treatment. | Fabbri C et al. | 2014 | Canadian journal of psychiatry. Revue canadienne de psychiatrie |
| 24904231 | A novel catechol-O-methyltransferase variant associated with human disc degeneration. | Gruber HE et al. | 2014 | International journal of medical sciences |
| 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 |
| 25324626 | Research in China on the molecular genetics of schizophrenia. | Cui D et al. | 2012 | Shanghai archives of psychiatry |
| 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 |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 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 |
| 25963335 | Common variants of catechol-O-methyltransferase influence patient-controlled analgesia usage and postoperative pain in patients undergoing total hysterectomy. | Tan EC et al. | 2016 | The pharmacogenomics journal |
| 26483654 | Linking unfounded beliefs to genetic dopamine availability. | Schmack K et al. | 2015 | Frontiers in human neuroscience |
| 26724569 | Catechol-O-methyltransferase gene variants may associate with negative symptom response and plasma concentrations of prolactin in schizophrenia after amisulpride treatment. | Chen CY et al. | 2016 | Psychoneuroendocrinology |
| 26808641 | Dopamine receptor D2 and catechol-O-methyltransferase gene polymorphisms associated with anorexia nervosa in Chinese Han population: DRD2 and COMT gene polymorphisms were associated with AN. | Peng S et al. | 2016 | Neuroscience letters |
| 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) |
| 26988620 | No associations between five polymorphisms in COMT gene and migraine. | Takigawa H et al. | 2017 | Acta neurologica Scandinavica |
| 27028297 | A Complex Systems Approach to Causal Discovery in Psychiatry. | Saxe GN et al. | 2016 | PloS one |
| 27282867 | Catechol-O-methyltransferase association with hemoglobin A1c. | Hall KT et al. | 2016 | Metabolism |
| 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 |
| 27917384 | Genetic Alterations in Intervertebral Disc Disease. | Martirosyan NL et al. | 2016 | Frontiers in surgery |
| 28451382 | Roles of functional catechol-O-methyltransferase genotypes in Chinese patients with Parkinson's disease. | Xiao Q et al. | 2017 | Translational neurodegeneration |
| 28652652 | Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update. | Sharma A et al. | 2017 | World journal of gastroenterology |
| 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 |
| 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 |
| 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 |
| 29692704 | Left Parietal Functional Connectivity Mediates the Association Between <i>COMT</i> rs4633 and Verbal Intelligence in Healthy Adults. | Xu Q et al. | 2018 | Frontiers in neuroscience |
| 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 |
| 29912452 | Genetic Predictors of Response to Acupuncture for Aromatase Inhibitor-Associated Arthralgia Among Breast Cancer Survivors. | Genovese TJ et al. | 2019 | Pain medicine (Malden, Mass.) |
| 30158547 | A common polymorphism of COMT was associated with symptomatic lumbar disc herniation based on a large sample with Chinese Han ancestry. | Liu H et al. | 2018 | Scientific reports |
| 30453067 | Association of genetic polymorphisms with age at menarche in Russian women. | Ponomarenko I et al. | 2019 | Gene |
| 30597299 | A gender-specific COMT haplotype contributes to risk modulation rather than disease severity of major depressive disorder in a Chinese population. | Chao JK et al. | 2019 | Journal of affective disorders |
| 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 |
| 30904518 | Associations Between Catecholaminergic and Serotonergic Genes and Persistent Arm Pain Severity Following Breast Cancer Surgery. | Knisely MR et al. | 2019 | The journal of pain |
| 31129315 | Systematic Review and Meta-Analysis of Genetic Risk of Developing Chronic Postsurgical Pain. | Chidambaran V et al. | 2020 | The journal of pain |
| 31552390 | Placebo effects and the molecular biological components involved. | Cai L et al. | 2019 | General psychiatry |
| 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 |
| 32024434 | COMT gene variants and β-endorphin levels contribute to ethnic differences in experimental pain sensitivity. | Xu F et al. | 2020 | Molecular pain |
| 32034175 | COMT-Polymorphisms Modulated Functional Profile of the Fusiform Face Area Contributes to Face-Specific Recognition Ability. | Wu C et al. | 2020 | Scientific reports |
| 32533012 | Genetic variations in catechol-O-methyltransferase gene are associated with levodopa response variability in Chinese patients with Parkinson's disease. | Zhao C et al. | 2020 | Scientific reports |
| 32618128 | Interaction between catechol-O-methyltransferase polymorphism and childhood trauma in suicidal ideation of patients with post-traumatic stress disorder. | Kwon A et al. | 2020 | Brain and behavior |
| 33303340 | OXTR rs53576 Variation with Breast and Nipple Pain in Breastfeeding Women. | Lucas R et al. | 2021 | Pain management nursing |
| 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.