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.
rs165599
Current Build 155
Released April 9, 2021
- Organism
- Homo sapiens
- Position
-
chr22:19969258 (GRCh38.p13) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.461691 (122205/264690, TOPMED)G=0.335031 (76442/228164, ALFA)G=0.442862 (62006/140012, GnomAD) (+ 17 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
ARVCF : Intron VariantCOMT : 3 Prime UTR Variant
- Publications
- 109 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 | 228164 | G=0.335031 | A=0.664969 |
| European | Sub | 199900 | G=0.311651 | A=0.688349 |
| African | Sub | 7118 | G=0.6899 | A=0.3101 |
| African Others | Sub | 262 | G=0.786 | A=0.214 |
| African American | Sub | 6856 | G=0.6863 | A=0.3137 |
| Asian | Sub | 772 | G=0.499 | A=0.501 |
| East Asian | Sub | 626 | G=0.487 | A=0.513 |
| Other Asian | Sub | 146 | G=0.548 | A=0.452 |
| Latin American 1 | Sub | 828 | G=0.414 | A=0.586 |
| Latin American 2 | Sub | 6752 | G=0.4922 | A=0.5078 |
| South Asian | Sub | 5048 | G=0.4556 | A=0.5444 |
| Other | Sub | 7746 | G=0.3719 | A=0.6281 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.461691 | A=0.538309 |
| Allele Frequency Aggregator | Total | Global | 228164 | G=0.335031 | A=0.664969 |
| Allele Frequency Aggregator | European | Sub | 199900 | G=0.311651 | A=0.688349 |
| Allele Frequency Aggregator | Other | Sub | 7746 | G=0.3719 | A=0.6281 |
| Allele Frequency Aggregator | African | Sub | 7118 | G=0.6899 | A=0.3101 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6752 | G=0.4922 | A=0.5078 |
| Allele Frequency Aggregator | South Asian | Sub | 5048 | G=0.4556 | A=0.5444 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 828 | G=0.414 | A=0.586 |
| Allele Frequency Aggregator | Asian | Sub | 772 | G=0.499 | A=0.501 |
| gnomAD - Genomes | Global | Study-wide | 140012 | G=0.442862 | A=0.557138 |
| gnomAD - Genomes | European | Sub | 75830 | G=0.30815 | A=0.69185 |
| gnomAD - Genomes | African | Sub | 41944 | G=0.68174 | A=0.31826 |
| gnomAD - Genomes | American | Sub | 13640 | G=0.45301 | A=0.54699 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.3919 | A=0.6081 |
| gnomAD - Genomes | East Asian | Sub | 3124 | G=0.5147 | A=0.4853 |
| gnomAD - Genomes | Other | Sub | 2152 | G=0.4438 | A=0.5562 |
| The PAGE Study | Global | Study-wide | 78686 | G=0.55021 | A=0.44979 |
| The PAGE Study | AfricanAmerican | Sub | 32510 | G=0.67259 | A=0.32741 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.48233 | A=0.51767 |
| The PAGE Study | Asian | Sub | 8316 | G=0.4542 | A=0.5458 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.4693 | A=0.5307 |
| The PAGE Study | NativeHawaiian | Sub | 4530 | G=0.3887 | A=0.6113 |
| The PAGE Study | Cuban | Sub | 4230 | G=0.4132 | A=0.5868 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.5183 | A=0.4817 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.5253 | A=0.4747 |
| The PAGE Study | SouthAmerican | Sub | 1980 | G=0.5273 | A=0.4727 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.4278 | A=0.5722 |
| The PAGE Study | SouthAsian | Sub | 854 | G=0.419 | A=0.581 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | G=0.44427 | A=0.55573 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.5092 | A=0.4908 |
| 1000Genomes | African | Sub | 1322 | G=0.7474 | A=0.2526 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.4683 | A=0.5317 |
| 1000Genomes | Europe | Sub | 1006 | G=0.3141 | A=0.6859 |
| 1000Genomes | South Asian | Sub | 978 | G=0.438 | A=0.562 |
| 1000Genomes | American | Sub | 694 | G=0.499 | A=0.501 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.3232 | A=0.6768 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.3033 | A=0.6967 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.3066 | A=0.6934 |
| MxGDAR/Encodat-PGx | Global | Study-wide | 3266 | G=0.5389 | A=0.4611 |
| MxGDAR/Encodat-PGx | MxGDAR | Sub | 3266 | G=0.5389 | A=0.4611 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.4713 | A=0.5287, C=0.0000 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.4809 | A=0.5191 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.298 | A=0.702 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 732 | G=0.492 | A=0.508 |
| CNV burdens in cranial meningiomas | CRM | Sub | 732 | G=0.492 | A=0.508 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.348 | A=0.652 |
| SGDP_PRJ | Global | Study-wide | 430 | G=0.312 | A=0.688 |
| Qatari | Global | Study-wide | 216 | G=0.333 | A=0.667 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 216 | G=0.505 | A=0.495 |
| Siberian | Global | Study-wide | 50 | G=0.16 | A=0.84 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.20 | A=0.80 |
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.19969258G>A |
| GRCh38.p13 chr 22 | NC_000022.11:g.19969258G>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.19956781G>A |
| GRCh37.p13 chr 22 | NC_000022.10:g.19956781G>C |
| ARVCF RefSeqGene | NG_023326.1:g.52529C>T |
| ARVCF RefSeqGene | NG_023326.1:g.52529C>G |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.32519G>A |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.32519G>C |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| COMT transcript variant 3 | NM_001135162.2:c.*522= | N/A | 3 Prime UTR Variant |
| COMT transcript variant 2 | NM_001135161.2:c.*522= | N/A | 3 Prime UTR Variant |
| COMT transcript variant 5 | NM_001362828.2:c.*522= | N/A | 3 Prime UTR Variant |
| COMT transcript variant 4 | NM_007310.3:c.*522= | N/A | 3 Prime UTR Variant |
| COMT transcript variant 1 | NM_000754.4:c.*522= | N/A | 3 Prime UTR Variant |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ARVCF transcript variant 1 | NM_001670.3:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X2 |
XM_005261242.3:c.2764-204… XM_005261242.3:c.2764-2049C>T |
N/A | Intron Variant |
| ARVCF transcript variant X1 |
XM_006724243.3:c.2782-204… XM_006724243.3:c.2782-2049C>T |
N/A | Intron Variant |
| ARVCF transcript variant X8 |
XM_006724246.4:c.2536-204… XM_006724246.4:c.2536-2049C>T |
N/A | Intron Variant |
| ARVCF transcript variant X3 |
XM_011530179.3:c.2749-204… XM_011530179.3:c.2749-2049C>T |
N/A | Intron Variant |
| ARVCF transcript variant X17 |
XM_011530182.3:c.1348-204… XM_011530182.3:c.1348-2049C>T |
N/A | Intron Variant |
| ARVCF transcript variant X9 |
XM_024452249.1:c.2536-204… XM_024452249.1:c.2536-2049C>T |
N/A | Intron Variant |
| ARVCF transcript variant X5 | XM_005261243.4:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X7 | XM_005261244.4:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X6 | XM_006724245.3:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X10 | XM_006724247.4:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X11 | XM_006724248.4:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X14 | XM_006724249.3:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X15 | XM_006724250.3:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X4 | XM_011530180.1:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X16 | XM_011530181.1:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X18 | XM_011530183.3:c. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X12 | XR_937863.2:n. | N/A | Genic Downstream Transcript Variant |
| ARVCF transcript variant X13 | XR_937864.1:n. | N/A | Genic Downstream 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 |
|---|---|---|
| RCV001028852.1 | 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 | G= | A | C |
|---|---|---|---|
| GRCh38.p13 chr 22 | NC_000022.11:g.19969258= | NC_000022.11:g.19969258G>A | NC_000022.11:g.19969258G>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.19956781= | NC_000022.10:g.19956781G>A | NC_000022.10:g.19956781G>C |
| ARVCF RefSeqGene | NG_023326.1:g.52529= | NG_023326.1:g.52529C>T | NG_023326.1:g.52529C>G |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.32519= | NG_011526.1:g.32519G>A | NG_011526.1:g.32519G>C |
| COMT transcript variant 1 | NM_000754.4:c.*522= | NM_000754.4:c.*522G>A | NM_000754.4:c.*522G>C |
| COMT transcript variant 1 | NM_000754.3:c.*522= | NM_000754.3:c.*522G>A | NM_000754.3:c.*522G>C |
| COMT transcript variant 4 | NM_007310.3:c.*522= | NM_007310.3:c.*522G>A | NM_007310.3:c.*522G>C |
| COMT transcript variant 4 | NM_007310.2:c.*522= | NM_007310.2:c.*522G>A | NM_007310.2:c.*522G>C |
| COMT transcript variant 5 | NM_001362828.2:c.*522= | NM_001362828.2:c.*522G>A | NM_001362828.2:c.*522G>C |
| COMT transcript variant 5 | NM_001362828.1:c.*522= | NM_001362828.1:c.*522G>A | NM_001362828.1:c.*522G>C |
| COMT transcript variant 2 | NM_001135161.2:c.*522= | NM_001135161.2:c.*522G>A | NM_001135161.2:c.*522G>C |
| COMT transcript variant 2 | NM_001135161.1:c.*522= | NM_001135161.1:c.*522G>A | NM_001135161.1:c.*522G>C |
| COMT transcript variant 3 | NM_001135162.2:c.*522= | NM_001135162.2:c.*522G>A | NM_001135162.2:c.*522G>C |
| COMT transcript variant 3 | NM_001135162.1:c.*522= | NM_001135162.1:c.*522G>A | NM_001135162.1:c.*522G>C |
| ARVCF transcript variant X2 | XM_005261242.1:c.2764-2049= | XM_005261242.1:c.2764-2049C>T | XM_005261242.1:c.2764-2049C>G |
| ARVCF transcript variant X2 | XM_005261242.3:c.2764-2049= | XM_005261242.3:c.2764-2049C>T | XM_005261242.3:c.2764-2049C>G |
| ARVCF transcript variant X1 | XM_006724243.3:c.2782-2049= | XM_006724243.3:c.2782-2049C>T | XM_006724243.3:c.2782-2049C>G |
| ARVCF transcript variant X8 | XM_006724246.4:c.2536-2049= | XM_006724246.4:c.2536-2049C>T | XM_006724246.4:c.2536-2049C>G |
| ARVCF transcript variant X3 | XM_011530179.3:c.2749-2049= | XM_011530179.3:c.2749-2049C>T | XM_011530179.3:c.2749-2049C>G |
| ARVCF transcript variant X17 | XM_011530182.3:c.1348-2049= | XM_011530182.3:c.1348-2049C>T | XM_011530182.3:c.1348-2049C>G |
| ARVCF transcript variant X9 | XM_024452249.1:c.2536-2049= | XM_024452249.1:c.2536-2049C>T | XM_024452249.1:c.2536-2049C>G |
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 | KWOK | ss232577 | Jul 12, 2000 (79) |
| 2 | SC | ss458658 | Jul 12, 2000 (79) |
| 3 | SC_JCM | ss590927 | Jul 16, 2000 (80) |
| 4 | KWOK | ss1058129 | Oct 04, 2000 (86) |
| 5 | KWOK | ss1750415 | Oct 18, 2000 (87) |
| 6 | RIKENSNPRC | ss6311522 | Feb 20, 2003 (111) |
| 7 | SC_SNP | ss13346919 | Dec 05, 2003 (119) |
| 8 | CSHL-HAPMAP | ss16931913 | Feb 27, 2004 (120) |
| 9 | SSAHASNP | ss21849246 | Apr 05, 2004 (121) |
| 10 | KRIBB_YJKIM | ss65825202 | Nov 30, 2006 (127) |
| 11 | HGSV | ss84729314 | Dec 15, 2007 (130) |
| 12 | BCMHGSC_JDW | ss91877567 | Mar 24, 2008 (129) |
| 13 | HUMANGENOME_JCVI | ss96092650 | Feb 05, 2009 (130) |
| 14 | 1000GENOMES | ss112551524 | Jan 25, 2009 (130) |
| 15 | 1000GENOMES | ss114036114 | Jan 25, 2009 (130) |
| 16 | ILLUMINA-UK | ss117362091 | Feb 14, 2009 (130) |
| 17 | ENSEMBL | ss138335210 | Dec 01, 2009 (131) |
| 18 | ENSEMBL | ss143572108 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss153545530 | Dec 01, 2009 (131) |
| 20 | GMI | ss157034677 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss159291002 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss160381444 | Dec 01, 2009 (131) |
| 23 | ILLUMINA | ss172610986 | Jul 04, 2010 (132) |
| 24 | 1000GENOMES | ss228618171 | Jul 14, 2010 (132) |
| 25 | 1000GENOMES | ss238022321 | Jul 15, 2010 (132) |
| 26 | 1000GENOMES | ss244151678 | Jul 15, 2010 (132) |
| 27 | BL | ss255842591 | May 09, 2011 (134) |
| 28 | GMI | ss283587239 | May 04, 2012 (137) |
| 29 | GMI | ss287550255 | Apr 25, 2013 (138) |
| 30 | PJP | ss292736332 | May 09, 2011 (134) |
| 31 | ILLUMINA | ss480060545 | May 04, 2012 (137) |
| 32 | ILLUMINA | ss480069248 | May 04, 2012 (137) |
| 33 | ILLUMINA | ss480743015 | Sep 08, 2015 (146) |
| 34 | ILLUMINA | ss484828188 | May 04, 2012 (137) |
| 35 | ILLUMINA | ss536904327 | Sep 08, 2015 (146) |
| 36 | TISHKOFF | ss566560819 | Apr 25, 2013 (138) |
| 37 | SSMP | ss662483780 | Apr 25, 2013 (138) |
| 38 | ILLUMINA | ss778815995 | Sep 08, 2015 (146) |
| 39 | ILLUMINA | ss782860661 | Sep 08, 2015 (146) |
| 40 | ILLUMINA | ss783825001 | Sep 08, 2015 (146) |
| 41 | ILLUMINA | ss832114676 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss832803113 | Jul 13, 2019 (153) |
| 43 | ILLUMINA | ss834276300 | Sep 08, 2015 (146) |
| 44 | EVA-GONL | ss995222852 | Aug 21, 2014 (142) |
| 45 | JMKIDD_LAB | ss1082570495 | Aug 21, 2014 (142) |
| 46 | 1000GENOMES | ss1366683306 | Aug 21, 2014 (142) |
| 47 | DDI | ss1429219800 | Apr 01, 2015 (144) |
| 48 | EVA_GENOME_DK | ss1579704288 | Apr 01, 2015 (144) |
| 49 | EVA_UK10K_ALSPAC | ss1639754041 | Apr 01, 2015 (144) |
| 50 | EVA_UK10K_TWINSUK | ss1682748074 | Apr 01, 2015 (144) |
| 51 | EVA_DECODE | ss1699291957 | Apr 01, 2015 (144) |
| 52 | ILLUMINA | ss1752413990 | Sep 08, 2015 (146) |
| 53 | HAMMER_LAB | ss1809734006 | Sep 08, 2015 (146) |
| 54 | WEILL_CORNELL_DGM | ss1938784440 | Feb 12, 2016 (147) |
| 55 | ILLUMINA | ss1946577668 | Feb 12, 2016 (147) |
| 56 | ILLUMINA | ss1959965734 | Feb 12, 2016 (147) |
| 57 | GENOMED | ss1969246885 | Jul 19, 2016 (147) |
| 58 | JJLAB | ss2030165243 | Sep 14, 2016 (149) |
| 59 | USC_VALOUEV | ss2158775197 | Dec 20, 2016 (150) |
| 60 | HUMAN_LONGEVITY | ss2246457434 | Dec 20, 2016 (150) |
| 61 | TOPMED | ss2413284325 | Dec 20, 2016 (150) |
| 62 | SYSTEMSBIOZJU | ss2629580771 | Nov 08, 2017 (151) |
| 63 | ILLUMINA | ss2633862798 | Nov 08, 2017 (151) |
| 64 | GRF | ss2704518149 | Nov 08, 2017 (151) |
| 65 | ILLUMINA | ss2710952880 | Nov 08, 2017 (151) |
| 66 | GNOMAD | ss2972986818 | Nov 08, 2017 (151) |
| 67 | AFFY | ss2985850741 | Nov 08, 2017 (151) |
| 68 | SWEGEN | ss3019086443 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss3022171922 | Nov 08, 2017 (151) |
| 70 | BIOINF_KMB_FNS_UNIBA | ss3028920337 | Nov 08, 2017 (151) |
| 71 | CSHL | ss3352776515 | Nov 08, 2017 (151) |
| 72 | TOPMED | ss3374062317 | Nov 08, 2017 (151) |
| 73 | ILLUMINA | ss3625799493 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3628506040 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3631815182 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3633268873 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3633984264 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3634860963 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3635668900 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3636556596 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3637421094 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3638374456 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3640568264 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3644796340 | Oct 12, 2018 (152) |
| 85 | OMUKHERJEE_ADBS | ss3646561248 | Oct 12, 2018 (152) |
| 86 | URBANLAB | ss3651151892 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3652633475 | Oct 12, 2018 (152) |
| 88 | EGCUT_WGS | ss3685618964 | Jul 13, 2019 (153) |
| 89 | EVA_DECODE | ss3707955054 | Jul 13, 2019 (153) |
| 90 | ILLUMINA | ss3725957514 | Jul 13, 2019 (153) |
| 91 | ACPOP | ss3743823318 | Jul 13, 2019 (153) |
| 92 | ILLUMINA | ss3744205031 | Jul 13, 2019 (153) |
| 93 | ILLUMINA | ss3745160794 | Jul 13, 2019 (153) |
| 94 | EVA | ss3759230984 | Jul 13, 2019 (153) |
| 95 | PAGE_CC | ss3772082294 | Jul 13, 2019 (153) |
| 96 | ILLUMINA | ss3772656777 | Jul 13, 2019 (153) |
| 97 | PACBIO | ss3788793375 | Jul 13, 2019 (153) |
| 98 | PACBIO | ss3793664465 | Jul 13, 2019 (153) |
| 99 | PACBIO | ss3798550790 | Jul 13, 2019 (153) |
| 100 | KHV_HUMAN_GENOMES | ss3822398869 | Jul 13, 2019 (153) |
| 101 | EVA | ss3825965526 | Apr 27, 2020 (154) |
| 102 | EVA | ss3835927822 | Apr 27, 2020 (154) |
| 103 | EVA | ss3841592416 | Apr 27, 2020 (154) |
| 104 | EVA | ss3847107076 | Apr 27, 2020 (154) |
| 105 | SGDP_PRJ | ss3890256893 | Apr 27, 2020 (154) |
| 106 | KRGDB | ss3940640496 | Apr 27, 2020 (154) |
| 107 | KOGIC | ss3983389769 | Apr 27, 2020 (154) |
| 108 | FSA-LAB | ss3984229806 | Apr 26, 2021 (155) |
| 109 | EVA | ss3984450658 | Apr 26, 2021 (155) |
| 110 | EVA | ss3984758337 | Apr 26, 2021 (155) |
| 111 | EVA | ss3986086724 | Apr 26, 2021 (155) |
| 112 | EVA | ss4017873664 | Apr 26, 2021 (155) |
| 113 | TOPMED | ss5105109707 | Apr 26, 2021 (155) |
| 114 | TOMMO_GENOMICS | ss5232040772 | Apr 26, 2021 (155) |
| 115 | EVA | ss5237615152 | Apr 26, 2021 (155) |
| 116 | 1000Genomes | NC_000022.10 - 19956781 | Oct 12, 2018 (152) |
| 117 | The Avon Longitudinal Study of Parents and Children | NC_000022.10 - 19956781 | Oct 12, 2018 (152) |
| 118 | Genetic variation in the Estonian population | NC_000022.10 - 19956781 | Oct 12, 2018 (152) |
| 119 | The Danish reference pan genome | NC_000022.10 - 19956781 | Apr 27, 2020 (154) |
| 120 | gnomAD - Genomes | NC_000022.11 - 19969258 | Apr 26, 2021 (155) |
| 121 | Genome of the Netherlands Release 5 | NC_000022.10 - 19956781 | Apr 27, 2020 (154) |
| 122 | KOREAN population from KRGDB | NC_000022.10 - 19956781 | Apr 27, 2020 (154) |
| 123 | Korean Genome Project | NC_000022.11 - 19969258 | Apr 27, 2020 (154) |
| 124 | Northern Sweden | NC_000022.10 - 19956781 | Jul 13, 2019 (153) |
| 125 | The PAGE Study | NC_000022.11 - 19969258 | Jul 13, 2019 (153) |
| 126 | CNV burdens in cranial meningiomas | NC_000022.10 - 19956781 | Apr 26, 2021 (155) |
| 127 | MxGDAR/Encodat-PGx | NC_000022.10 - 19956781 | Apr 26, 2021 (155) |
| 128 | Qatari | NC_000022.10 - 19956781 | Apr 27, 2020 (154) |
| 129 | SGDP_PRJ | NC_000022.10 - 19956781 | Apr 27, 2020 (154) |
| 130 | Siberian | NC_000022.10 - 19956781 | Apr 27, 2020 (154) |
| 131 | 8.3KJPN | NC_000022.10 - 19956781 | Apr 26, 2021 (155) |
| 132 | TopMed | NC_000022.11 - 19969258 | Apr 26, 2021 (155) |
| 133 | UK 10K study - Twins | NC_000022.10 - 19956781 | Oct 12, 2018 (152) |
| 134 | A Vietnamese Genetic Variation Database | NC_000022.10 - 19956781 | Jul 13, 2019 (153) |
| 135 | ALFA | NC_000022.11 - 19969258 | Apr 26, 2021 (155) |
| 136 | ClinVar | RCV001028852.1 | 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) |
|---|---|
| rs58966983 | May 25, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss84729314 | NC_000022.8:18331334:G:A | NC_000022.11:19969257:G:A | (self) |
| ss91877567, ss112551524, ss114036114, ss117362091, ss255842591, ss283587239, ss287550255, ss292736332, ss480060545, ss1699291957 | NC_000022.9:18336780:G:A | NC_000022.11:19969257:G:A | (self) |
| 80217742, 44382116, 31357212, 5869227, 19773955, 47817890, 17108183, 307918, 3659, 20826362, 42273873, 11291551, 90010079, 44382116, 9792559, ss228618171, ss238022321, ss244151678, ss480069248, ss480743015, ss484828188, ss536904327, ss566560819, ss662483780, ss778815995, ss782860661, ss783825001, ss832114676, ss832803113, ss834276300, ss995222852, ss1082570495, ss1366683306, ss1429219800, ss1579704288, ss1639754041, ss1682748074, ss1752413990, ss1809734006, ss1938784440, ss1946577668, ss1959965734, ss1969246885, ss2030165243, ss2158775197, ss2413284325, ss2629580771, ss2633862798, ss2704518149, ss2710952880, ss2972986818, ss2985850741, ss3019086443, ss3022171922, ss3352776515, ss3625799493, ss3628506040, ss3631815182, ss3633268873, ss3633984264, ss3634860963, ss3635668900, ss3636556596, ss3637421094, ss3638374456, ss3640568264, ss3644796340, ss3646561248, ss3652633475, ss3685618964, ss3743823318, ss3744205031, ss3745160794, ss3759230984, ss3772656777, ss3788793375, ss3793664465, ss3798550790, ss3825965526, ss3835927822, ss3841592416, ss3890256893, ss3940640496, ss3984229806, ss3984450658, ss3984758337, ss3986086724, ss4017873664, ss5232040772, ss5237615152 | NC_000022.10:19956780:G:A | NC_000022.11:19969257:G:A | (self) |
| RCV001028852.1, 566545212, 39767770, 1303763, 237444495, 380218654, 9739996050, ss2246457434, ss3028920337, ss3374062317, ss3651151892, ss3707955054, ss3725957514, ss3772082294, ss3822398869, ss3847107076, ss3983389769, ss5105109707 | NC_000022.11:19969257:G:A | NC_000022.11:19969257:G:A | (self) |
| ss232577, ss458658, ss590927, ss1058129, ss1750415, ss6311522, ss13346919, ss16931913, ss21849246, ss65825202, ss96092650, ss138335210, ss143572108, ss153545530, ss157034677, ss159291002, ss160381444, ss172610986 | NT_011519.10:3108930:G:A | NC_000022.11:19969257:G:A | (self) |
| 47817890, ss3940640496 | NC_000022.10:19956780:G:C | NC_000022.11:19969257:G:C | (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 |
| 15098000 | COMT haplotypes suggest P2 promoter region relevance for schizophrenia. | Palmatier MA et al. | 2004 | Molecular psychiatry |
| 15124004 | Variants in the catechol-o-methyltransferase (COMT) gene are associated with schizophrenia in Irish high-density families. | Chen X et al. | 2004 | Molecular psychiatry |
| 15457404 | Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. | Chen J et al. | 2004 | 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 |
| 15570503 | [No evidence for gender-specific sharing of COMT alleles in schizophrenia]. | Sand P et al. | 2004 | Psychiatrische Praxis |
| 15635644 | A family based study of catechol-O-methyltransferase (COMT) and attention deficit hyperactivity disorder (ADHD). | Turic D et al. | 2005 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 15931594 | An entropy-based statistic for genomewide association studies. | Zhao J et al. | 2005 | American journal of human genetics |
| 15956988 | COMT polymorphisms and anxiety-related personality traits. | Stein MB et al. | 2005 | Neuropsychopharmacology |
| 15962707 | The differential clinical and neurocognitive profiles of COMT SNP rs165599 genotypes in schizophrenia. | Chan RC et al. | 2005 | Journal of the International Neuropsychological Society |
| 16027741 | Catechol-O-methyltransferase haplotypes are associated with psychosis in Alzheimer disease. | Sweet RA et al. | 2005 | Molecular psychiatry |
| 16232322 | COMT genetic variation confers risk for psychotic and affective disorders: a case control study. | Funke B et al. | 2005 | Behavioral and brain functions |
| 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 |
| 16483362 | The quantification of COMT mRNA in post mortem cerebellum tissue: diagnosis, genotype, methylation and expression. | Dempster EL et al. | 2006 | BMC medical genetics |
| 16525418 | Association of the Val158Met catechol O-methyltransferase genetic polymorphism with panic disorder. | Rothe C et al. | 2006 | Neuropsychopharmacology |
| 16786032 | Impact of complex genetic variation in COMT on human brain function. | Meyer-Lindenberg A et al. | 2006 | Molecular psychiatry |
| 16816420 | Nonlinear tests for genomewide association studies. | Zhao J et al. | 2006 | Genetics |
| 16876132 | Catechol-O-methyltransferase (COMT) gene variants predict response to bupropion therapy for tobacco dependence. | Berrettini WH et al. | 2007 | Biological psychiatry |
| 17006672 | Evidence for statistical epistasis between catechol-O-methyltransferase (COMT) and polymorphisms in RGS4, G72 (DAOA), GRM3, and DISC1: influence on risk of schizophrenia. | Nicodemus KK et al. | 2007 | Human 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 |
| 17427186 | Association analysis of COMT polymorphisms and schizophrenia in a Chinese Han population: a case-control study. | Yu R et al. | 2007 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 17466074 | Genetic polymorphisms in dopamine-related genes and smoking cessation in women: a prospective cohort study. | Ton TG et al. | 2007 | Behavioral and brain functions |
| 17482701 | No associations exist between five functional polymorphisms in the catechol-O-methyltransferase gene and schizophrenia in a Japanese population. | Nunokawa A et al. | 2007 | Neuroscience research |
| 17547583 | COMT genotype increases risk for bipolar I disorder and influences neurocognitive performance. | Burdick KE et al. | 2007 | Bipolar disorders |
| 17630406 | Dopamine genes and schizophrenia: case closed or evidence pending? | Talkowski ME et al. | 2007 | Schizophrenia bulletin |
| 17707347 | Genetic variation in catechol-O-methyltransferase: effects on working memory in schizophrenic patients, their siblings, and healthy controls. | Diaz-Asper CM et al. | 2008 | Biological psychiatry |
| 17949513 | Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS. | Michaelovsky E et al. | 2008 | The international journal of neuropsychopharmacology |
| 17961261 | Catechol-O-methyltransferase gene haplotypes in Mexican and Spanish patients with fibromyalgia. | Vargas-Alarcón G et al. | 2007 | Arthritis research & therapy |
| 18021915 | Genetics and smoking cessation improving outcomes in smokers at risk. | Lerman CE et al. | 2007 | American journal of preventive medicine |
| 18081002 | Association of catechol-O-methyltransferase variants with loudness dependence of auditory evoked potentials. | Juckel G et al. | 2008 | Human psychopharmacology |
| 18384078 | Association study of candidate variants of COMT with neuroticism, anxiety and depression. | Wray NR et al. | 2008 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 18436194 | Catechol-O-methyltransferase contributes to genetic susceptibility shared among anxiety spectrum phenotypes. | Hettema JM et al. | 2008 | Biological psychiatry |
| 18466879 | Association of a nonsynonymous variant of DAOA with visuospatial ability in a bipolar family sample. | Soronen P et al. | 2008 | Biological psychiatry |
| 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 |
| 18704099 | Association between the catechol-O-methyltransferase Val158Met polymorphism and cocaine dependence. | Lohoff FW et al. | 2008 | Neuropsychopharmacology |
| 18715757 | Genetic associations with schizophrenia: meta-analyses of 12 candidate genes. | Shi J et al. | 2008 | Schizophrenia research |
| 19071221 | Impact of interacting functional variants in COMT on regional gray matter volume in human brain. | Honea R et al. | 2009 | NeuroImage |
| 19077118 | Genetic variants in COMT and neurocognitive impairment in families of patients with schizophrenia. | Liao SY et al. | 2009 | Genes, brain, and behavior |
| 19095219 | Variation in catechol-O-methyltransferase is associated with duloxetine response in a clinical trial for major depressive disorder. | Perlis RH et al. | 2009 | Biological psychiatry |
| 19329282 | Meta-analysis of association between genetic variants in COMT and schizophrenia: an update. | Okochi T et al. | 2009 | Schizophrenia research |
| 19365560 | Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs. | Nackley AG et al. | 2009 | PloS one |
| 19369177 | Association of the 3' region of COMT with schizophrenia in Taiwan. | Chien YL et al. | 2009 | Journal of the Formosan Medical Association = Taiwan yi zhi |
| 19451915 | Candidate-gene association analysis of response to risperidone in African-American and white patients with schizophrenia. | Fijal BA et al. | 2009 | The pharmacogenomics journal |
| 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 |
| 19721400 | Association between COMT gene and Chinese male schizophrenic patients with violent behavior. | Gu Y et al. | 2009 | Medical science monitor |
| 19997043 | Variation in the catechol-O-methyltransferase Val 158 Met polymorphism associated with conduct disorder and ADHD symptoms, among adolescent male delinquents. | DeYoung CG et al. | 2010 | Psychiatric genetics |
| 20080926 | The influence of 5-HTT and COMT genotypes on verbal fluency in ecstasy users. | Fagundo AB et al. | 2010 | Journal of psychopharmacology (Oxford, England) |
| 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 |
| 20157235 | Genetics of psychosis in Alzheimer's disease: a review. | DeMichele-Sweet MA et al. | 2010 | Journal of Alzheimer's disease |
| 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 |
| 20586531 | The catechol-O-methyl-transferase gene in tardive dyskinesia. | Zai CC et al. | 2010 | The world journal of biological psychiatry |
| 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 |
| 20877297 | Catechol O-methyltransferase pharmacogenomics and selective serotonin reuptake inhibitor response. | Ji Y et al. | 2012 | The pharmacogenomics journal |
| 21172166 | Pharmacogenetics of antidepressant response. | Porcelli S et al. | 2011 | Journal of psychiatry & neuroscience |
| 21217836 | No Association Between Functional Polymorphisms in COMT and MTHFR and Schizophrenia Risk in Korean Population. | Kang HJ et al. | 2010 | Epidemiology and health |
| 21225419 | Gene-environment interactions: early life stress and risk for depressive and anxiety disorders. | Nugent NR et al. | 2011 | Psychopharmacology |
| 21319490 | Imaging genetics of schizophrenia. | Meyer-Lindenberg A et al. | 2010 | Dialogues in clinical neuroscience |
| 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 |
| 21595525 | Sensory gating deficit is associated with catechol-O-methyltransferase polymorphisms in bipolar disorder. | Ancín I et al. | 2011 | The world journal of biological psychiatry |
| 21609749 | Role of functional dopaminergic gene polymorphisms in the etiology of idiopathic intellectual disability. | Bhowmik AD et al. | 2011 | Progress in neuro-psychopharmacology & biological psychiatry |
| 21656904 | Association between polymorphisms in catechol-O-methyltransferase (COMT) and cocaine-induced paranoia in European-American and African-American populations. | Ittiwut R et al. | 2011 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 21788083 | Association of catechol-O-methyltransferase variants with duloxetine response in major depressive disorder. | Houston JP et al. | 2011 | Psychiatry research |
| 21934638 | A COMT gene haplotype associated with methamphetamine abuse. | Jugurnauth SK et al. | 2011 | Pharmacogenetics and genomics |
| 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 |
| 22103610 | Biomarkers to optimize the treatment of nicotine dependence. | Schnoll RA et al. | 2011 | Biomarkers in medicine |
| 22348792 | A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia. | Vargas-Alarcon G et al. | 2012 | BMC musculoskeletal disorders |
| 22713126 | COMT polymorphisms as predictors of cognitive dysfunction during manic and mixed episodes in bipolar I disorder. | Soeiro-de-Souza MG et al. | 2012 | Bipolar disorders |
| 23178897 | The catechol-O-methyltransferase gene (COMT) and cognitive function from childhood through adolescence. | Gaysina D et al. | 2013 | Biological psychology |
| 23213652 | Abstracts of the American College of Neuropsychopharmacology (ACNP) 51st Annual Meeting. December 2-6, 2012. Hollywood, Florida, USA. | 2012 | Neuropsychopharmacology | |
| 23332465 | Polymorphisms in microRNA target sites influence susceptibility to schizophrenia by altering the binding of miRNAs to their targets. | Gong Y et al. | 2013 | European neuropsychopharmacology |
| 23598060 | Association study of polymorphisms in the alpha 7 nicotinic acetylcholine receptor subunit and catechol-o-methyl transferase genes with sensory gating in first-episode schizophrenia. | Liu X et al. | 2013 | Psychiatry research |
| 23762769 | Frequency Distribution of COMT Polymorphisms in Greek Patients with Schizophrenia and Controls: A Study of SNPs rs737865, rs4680, and rs165599. | Maria K et al. | 2012 | ISRN psychiatry |
| 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 |
| 23992923 | Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome. | Gothelf D et al. | 2014 | Biological psychiatry |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 24955500 | Perceived stress during pregnancy and the catechol-O-methyltransferase (COMT) rs165599 polymorphism impacts on childhood IQ. | Lamb YN et al. | 2014 | Cognition |
| 25045629 | Is catechol-o-methyltransferase gene polymorphism a risk factor in the development of premenstrual syndrome? | Deveci EO et al. | 2014 | Clinical and experimental reproductive medicine |
| 25159270 | Interactions among catechol-O-methyltransferase genotype, parenting, and sex predict children's internalizing symptoms and inhibitory control: Evidence for differential susceptibility. | Sulik MJ et al. | 2015 | Development and psychopathology |
| 25320962 | COMT haplotypes modulate associations of antenatal maternal anxiety and neonatal cortical morphology. | Qiu A et al. | 2015 | The American journal of psychiatry |
| 25744938 | A potential interaction between COMT and MTHFR genetic variants in Han Chinese patients with bipolar II disorder. | Wang LJ et al. | 2015 | Scientific reports |
| 25819021 | A review of pharmacogenetic studies of substance-related disorders. | Jones JD et al. | 2015 | Drug and alcohol dependence |
| 26073434 | A novel association between COMT and BDNF gene polymorphisms and likelihood of symptomatic dysphagia in older people. | Nimmons D et al. | 2015 | Neurogastroenterology and motility |
| 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) |
| 26858644 | Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. | Chua EW et al. | 2016 | Frontiers in pharmacology |
| 26920810 | Modulative effects of COMT haplotype on age-related associations with brain morphology. | Lee A et al. | 2016 | Human brain mapping |
| 27039372 | Interaction between COMT rs5993883 and second generation antipsychotics is linked to decreases in verbal cognition and cognitive control in bipolar disorder. | Flowers SA et al. | 2016 | BMC psychology |
| 27166759 | Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions. | Yang J et al. | 2016 | Molecular psychiatry |
| 27521242 | TPH-2 Polymorphisms Interact with Early Life Stress to Influence Response to Treatment with Antidepressant Drugs. | Xu Z et al. | 2016 | The international journal of neuropsychopharmacology |
| 27743374 | Associations between genetic risk, functional brain network organization and neuroticism. | Servaas MN et al. | 2017 | Brain imaging and behavior |
| 27895608 | Genetic Consideration of Schizotypal Traits: A Review. | Walter EE et al. | 2016 | Frontiers in psychology |
| 28041918 | Prediction of functional outcome in young patients with a recent-onset psychiatric disorder: Beyond the traditional diagnostic classification system. | Minichino A et al. | 2017 | Schizophrenia research |
| 28085950 | Impact of DRD2/ANKK1 and COMT Polymorphisms on Attention and Cognitive Functions in Schizophrenia. | Nkam I et al. | 2017 | PloS one |
| 28273278 | Catechol-O-methyltransferase (COMT) polymorphisms modulate working memory in individuals with schizophrenia and healthy controls. | Matsuzaka CT et al. | 2017 | Revista brasileira de psiquiatria (Sao Paulo, Brazil |
| 28472995 | Interaction between cytochrome P450 2A6 and Catechol-O-Methyltransferase genes and their association with smoking risk in young men. | Ou WC et al. | 2017 | Behavioral and brain functions |
| 28746172 | A genetic variant in the catechol-O-methyl transferase (COMT) gene is related to age-dependent differences in the therapeutic effect of calcium-channel blockers. | Xu J et al. | 2017 | Medicine |
| 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 |
| 29255361 | Potential link between genetic polymorphisms of <i>catechol-O-methyltransferase</i> and dopamine receptors and treatment efficacy of risperidone on schizophrenia. | Han J et al. | 2017 | Neuropsychiatric disease and treatment |
| 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 |
| 29634613 | Association between COMT gene polymorphisms, clinical symptoms, and cognitive functions in Han Chinese patients with schizophrenia. | Sun Z et al. | 2018 | Psychiatric genetics |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 30165727 | Association between COMT gene rs165599 SNP and schizophrenia: A meta-analysis of case-control studies. | Gozukara Bag HG et al. | 2018 | Molecular genetics & genomic medicine |
| 30218069 | Catechol-O-methyltransferase (COMT) genotypes are associated with varying soluble, but not membrane-bound COMT protein in the human prefrontal cortex. | Parkin GM et al. | 2018 | Journal of human genetics |
| 30719257 | Genetic Variations of <i>DAOA</i> (rs947267 and rs3918342) and <i>COMT</i> Genes (rs165599 and rs4680) in Schizophrenia and Bipolar I Disorder. | Ahmadi L et al. | 2018 | Basic and clinical neuroscience |
| 31661578 | Effects of genotype on TENS effectiveness in controlling knee pain in persons with mild to moderate osteoarthritis. | Govil M et al. | 2020 | European journal of pain (London, England) |
| 32059146 | Sex hormones and genetic variants in hormone metabolic pathways associated with the risk of colorectal cancer. | Li S et al. | 2020 | Environment international |
| 32985495 | Catechol-O-Methyltransferase Gene Polymorphisms and the Risk of Chemotherapy-Induced Prospective Memory Impairment in Breast Cancer Patients with Varying Tumor Hormonal Receptor Expression. | Li W et al. | 2020 | Medical science monitor |
| 33588721 | Risk Genes in Schizophrenia and Their Importance in Choosing the Appropriate Antipsychotic Treatment. | Werner FM et al. | 2021 | Current pharmaceutical design |
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.