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.
rs737865
Current Build 155
Released April 9, 2021
- Organism
- Homo sapiens
- Position
-
chr22:19942598 (GRCh38.p13) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.227663 (60260/264690, TOPMED)G=0.281399 (45697/162392, ALFA)G=0.229143 (32091/140048, GnomAD) (+ 17 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
COMT : Intron VariantTXNRD2 : 2KB Upstream Variant
- Publications
- 86 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 | 162392 | A=0.718601 | G=0.281399, T=0.000000 |
| European | Sub | 140924 | A=0.705430 | G=0.294570, T=0.000000 |
| African | Sub | 6954 | A=0.8617 | G=0.1383, T=0.0000 |
| African Others | Sub | 230 | A=0.909 | G=0.091, T=0.000 |
| African American | Sub | 6724 | A=0.8601 | G=0.1399, T=0.0000 |
| Asian | Sub | 706 | A=0.746 | G=0.254, T=0.000 |
| East Asian | Sub | 574 | A=0.740 | G=0.260, T=0.000 |
| Other Asian | Sub | 132 | A=0.773 | G=0.227, T=0.000 |
| Latin American 1 | Sub | 752 | A=0.747 | G=0.253, T=0.000 |
| Latin American 2 | Sub | 6310 | A=0.8353 | G=0.1647, T=0.0000 |
| South Asian | Sub | 190 | A=0.742 | G=0.258, T=0.000 |
| Other | Sub | 6556 | A=0.7306 | G=0.2694, T=0.0000 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | A=0.772337 | G=0.227663 |
| Allele Frequency Aggregator | Total | Global | 162392 | A=0.718601 | G=0.281399, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 140924 | A=0.705430 | G=0.294570, T=0.000000 |
| Allele Frequency Aggregator | African | Sub | 6954 | A=0.8617 | G=0.1383, T=0.0000 |
| Allele Frequency Aggregator | Other | Sub | 6556 | A=0.7306 | G=0.2694, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6310 | A=0.8353 | G=0.1647, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 752 | A=0.747 | G=0.253, T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 706 | A=0.746 | G=0.254, T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 190 | A=0.742 | G=0.258, T=0.000 |
| gnomAD - Genomes | Global | Study-wide | 140048 | A=0.770857 | G=0.229143 |
| gnomAD - Genomes | European | Sub | 75850 | A=0.73678 | G=0.26322 |
| gnomAD - Genomes | African | Sub | 41966 | A=0.85005 | G=0.14995 |
| gnomAD - Genomes | American | Sub | 13640 | A=0.77845 | G=0.22155 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | A=0.5692 | G=0.4308 |
| gnomAD - Genomes | East Asian | Sub | 3120 | A=0.7330 | G=0.2670 |
| gnomAD - Genomes | Other | Sub | 2148 | A=0.7458 | G=0.2542 |
| The PAGE Study | Global | Study-wide | 78676 | A=0.81396 | G=0.18604 |
| The PAGE Study | AfricanAmerican | Sub | 32504 | A=0.84937 | G=0.15063 |
| The PAGE Study | Mexican | Sub | 10806 | A=0.82278 | G=0.17722 |
| The PAGE Study | Asian | Sub | 8314 | A=0.7502 | G=0.2498 |
| The PAGE Study | PuertoRican | Sub | 7918 | A=0.8023 | G=0.1977 |
| The PAGE Study | NativeHawaiian | Sub | 4530 | A=0.7854 | G=0.2146 |
| The PAGE Study | Cuban | Sub | 4228 | A=0.7287 | G=0.2713 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.7811 | G=0.2189 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.8465 | G=0.1535 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.8244 | G=0.1756 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.7722 | G=0.2278 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.748 | G=0.252 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.75286 | G=0.24714 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.7734 | G=0.2266 |
| 1000Genomes | African | Sub | 1322 | A=0.8737 | G=0.1263 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.7063 | G=0.2937 |
| 1000Genomes | Europe | Sub | 1006 | A=0.7187 | G=0.2813 |
| 1000Genomes | South Asian | Sub | 978 | A=0.733 | G=0.267 |
| 1000Genomes | American | Sub | 694 | A=0.816 | G=0.184 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.7645 | G=0.2355 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.7169 | G=0.2831 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.7093 | G=0.2907 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.7106 | G=0.2894 |
| PharmGKB Aggregated | Global | Study-wide | 2630 | A=0.7350 | G=0.2650 |
| PharmGKB Aggregated | PA155982848 | Sub | 2390 | A=0.7331 | G=0.2669 |
| PharmGKB Aggregated | PA151927220 | Sub | 240 | A=0.754 | G=0.246 |
| HapMap | Global | Study-wide | 1884 | A=0.7723 | G=0.2277 |
| HapMap | American | Sub | 766 | A=0.748 | G=0.252 |
| HapMap | African | Sub | 692 | A=0.844 | G=0.156 |
| HapMap | Asian | Sub | 250 | A=0.692 | G=0.308 |
| HapMap | Europe | Sub | 176 | A=0.710 | G=0.290 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.7107 | G=0.2893 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.722 | G=0.278 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 742 | A=0.701 | G=0.299 |
| CNV burdens in cranial meningiomas | CRM | Sub | 742 | A=0.701 | G=0.299 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.760 | G=0.240 |
| Qatari | Global | Study-wide | 216 | A=0.736 | G=0.264 |
| SGDP_PRJ | Global | Study-wide | 212 | A=0.406 | G=0.594 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.82 | G=0.17 |
| Siberian | Global | Study-wide | 26 | A=0.31 | G=0.69 |
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.19942598A>G |
| GRCh38.p13 chr 22 | NC_000022.11:g.19942598A>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.19930121A>G |
| GRCh37.p13 chr 22 | NC_000022.10:g.19930121A>T |
| TXNRD2 RefSeqGene (LRG_417) | NG_011835.1:g.4239T>C |
| TXNRD2 RefSeqGene (LRG_417) | NG_011835.1:g.4239T>A |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.5859A>G |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.5859A>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| COMT transcript variant 1 | NM_000754.4:c.-92+701A>G | N/A | Intron Variant |
| COMT transcript variant 5 |
NM_001362828.2:c.-386+701… NM_001362828.2:c.-386+701A>G |
N/A | Intron Variant |
| COMT transcript variant 2 | NM_001135161.2:c. | N/A | Genic Upstream Transcript Variant |
| COMT transcript variant 3 | NM_001135162.2:c. | N/A | Genic Upstream Transcript Variant |
| COMT transcript variant 4 | NM_007310.3:c. | N/A | Genic Upstream Transcript Variant |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TXNRD2 transcript variant 5 | NM_001282512.3:c. | N/A | Upstream Transcript Variant |
| TXNRD2 transcript variant 2 | NM_001352300.2:c. | N/A | Upstream Transcript Variant |
| TXNRD2 transcript variant 1 | NM_006440.5:c. | N/A | Upstream Transcript Variant |
| TXNRD2 transcript variant 3 | NM_001352301.2:c. | N/A | N/A |
| TXNRD2 transcript variant 4 | NM_001352302.2:c. | N/A | N/A |
| TXNRD2 transcript variant 6 | NM_001352303.2:c. | N/A | N/A |
| TXNRD2 transcript variant 7 | NR_147957.2:n. | N/A | Upstream Transcript Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | G | T |
|---|---|---|---|
| GRCh38.p13 chr 22 | NC_000022.11:g.19942598= | NC_000022.11:g.19942598A>G | NC_000022.11:g.19942598A>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.19930121= | NC_000022.10:g.19930121A>G | NC_000022.10:g.19930121A>T |
| TXNRD2 RefSeqGene (LRG_417) | NG_011835.1:g.4239= | NG_011835.1:g.4239T>C | NG_011835.1:g.4239T>A |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.5859= | NG_011526.1:g.5859A>G | NG_011526.1:g.5859A>T |
| COMT transcript variant 1 | NM_000754.3:c.-92+701= | NM_000754.3:c.-92+701A>G | NM_000754.3:c.-92+701A>T |
| COMT transcript variant 1 | NM_000754.4:c.-92+701= | NM_000754.4:c.-92+701A>G | NM_000754.4:c.-92+701A>T |
| COMT transcript variant 5 | NM_001362828.2:c.-386+701= | NM_001362828.2:c.-386+701A>G | NM_001362828.2:c.-386+701A>T |
| COMT transcript variant X1 | XM_005261229.1:c.-386+701= | XM_005261229.1:c.-386+701A>G | XM_005261229.1:c.-386+701A>T |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss84951 | Oct 05, 2000 (86) |
| 2 | EGP_SNPS | ss12673694 | Dec 05, 2003 (119) |
| 3 | ABI | ss44313316 | Mar 15, 2006 (126) |
| 4 | ILLUMINA | ss65778058 | Oct 15, 2006 (127) |
| 5 | ILLUMINA | ss74884343 | Dec 06, 2007 (129) |
| 6 | PHARMGKB_PPII | ss84140175 | Dec 15, 2007 (130) |
| 7 | BCMHGSC_JDW | ss91877463 | Mar 24, 2008 (129) |
| 8 | PHARMGKB_PPII | ss105109900 | Feb 05, 2009 (130) |
| 9 | 1000GENOMES | ss112551323 | Jan 25, 2009 (130) |
| 10 | KRIBB_YJKIM | ss119365520 | Dec 01, 2009 (131) |
| 11 | GMI | ss157034298 | Dec 01, 2009 (131) |
| 12 | ILLUMINA | ss160876807 | Dec 01, 2009 (131) |
| 13 | COMPLETE_GENOMICS | ss167682533 | Jul 04, 2010 (132) |
| 14 | ILLUMINA | ss174359355 | Jul 04, 2010 (132) |
| 15 | 1000GENOMES | ss228618054 | Jul 14, 2010 (132) |
| 16 | 1000GENOMES | ss238022239 | Jul 15, 2010 (132) |
| 17 | 1000GENOMES | ss244151609 | Jul 15, 2010 (132) |
| 18 | BL | ss255842423 | May 09, 2011 (134) |
| 19 | GMI | ss283587127 | May 04, 2012 (137) |
| 20 | GMI | ss287550201 | Apr 25, 2013 (138) |
| 21 | ILLUMINA | ss481557725 | May 04, 2012 (137) |
| 22 | ILLUMINA | ss481587141 | May 04, 2012 (137) |
| 23 | ILLUMINA | ss482559429 | Sep 08, 2015 (146) |
| 24 | ILLUMINA | ss485573875 | May 04, 2012 (137) |
| 25 | ILLUMINA | ss537468699 | Sep 08, 2015 (146) |
| 26 | TISHKOFF | ss566560654 | Apr 25, 2013 (138) |
| 27 | SSMP | ss662483624 | Apr 25, 2013 (138) |
| 28 | ILLUMINA | ss778973727 | Sep 08, 2015 (146) |
| 29 | ILLUMINA | ss783232495 | Sep 08, 2015 (146) |
| 30 | ILLUMINA | ss784186614 | Sep 08, 2015 (146) |
| 31 | ILLUMINA | ss832492935 | Sep 08, 2015 (146) |
| 32 | ILLUMINA | ss834435808 | Sep 08, 2015 (146) |
| 33 | EVA-GONL | ss995222585 | Aug 21, 2014 (142) |
| 34 | JMKIDD_LAB | ss1082570340 | Aug 21, 2014 (142) |
| 35 | 1000GENOMES | ss1366682429 | Aug 21, 2014 (142) |
| 36 | DDI | ss1429219716 | Apr 01, 2015 (144) |
| 37 | EVA_GENOME_DK | ss1579704197 | Apr 01, 2015 (144) |
| 38 | EVA_UK10K_ALSPAC | ss1639753622 | Apr 01, 2015 (144) |
| 39 | EVA_UK10K_TWINSUK | ss1682747655 | Apr 01, 2015 (144) |
| 40 | EVA_DECODE | ss1699291709 | Apr 01, 2015 (144) |
| 41 | EVA_SVP | ss1713731228 | Apr 01, 2015 (144) |
| 42 | ILLUMINA | ss1752413943 | Sep 08, 2015 (146) |
| 43 | HAMMER_LAB | ss1809733892 | Sep 08, 2015 (146) |
| 44 | WEILL_CORNELL_DGM | ss1938784173 | Feb 12, 2016 (147) |
| 45 | ILLUMINA | ss1959965670 | Feb 12, 2016 (147) |
| 46 | JJLAB | ss2030165111 | Sep 14, 2016 (149) |
| 47 | USC_VALOUEV | ss2158775025 | Dec 20, 2016 (150) |
| 48 | HUMAN_LONGEVITY | ss2246455617 | Dec 20, 2016 (150) |
| 49 | TOPMED | ss2413282473 | Dec 20, 2016 (150) |
| 50 | SYSTEMSBIOZJU | ss2629580684 | Nov 08, 2017 (151) |
| 51 | ILLUMINA | ss2633862724 | Nov 08, 2017 (151) |
| 52 | ILLUMINA | ss2635110812 | Nov 08, 2017 (151) |
| 53 | GRF | ss2704517965 | Nov 08, 2017 (151) |
| 54 | ILLUMINA | ss2710952855 | Nov 08, 2017 (151) |
| 55 | GNOMAD | ss2972984363 | Nov 08, 2017 (151) |
| 56 | AFFY | ss2985850616 | Nov 08, 2017 (151) |
| 57 | SWEGEN | ss3019086015 | Nov 08, 2017 (151) |
| 58 | ILLUMINA | ss3022171855 | Nov 08, 2017 (151) |
| 59 | BIOINF_KMB_FNS_UNIBA | ss3028920255 | Nov 08, 2017 (151) |
| 60 | CSHL | ss3352776385 | Nov 08, 2017 (151) |
| 61 | TOPMED | ss3374056855 | Nov 08, 2017 (151) |
| 62 | ILLUMINA | ss3628505955 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3631815130 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3633268839 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3633984227 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3634860915 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3635668866 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3636556550 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3637421057 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3638374412 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3640568216 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3643334823 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3652633408 | Oct 12, 2018 (152) |
| 74 | EGCUT_WGS | ss3685618567 | Jul 13, 2019 (153) |
| 75 | EVA_DECODE | ss3707954569 | Jul 13, 2019 (153) |
| 76 | ILLUMINA | ss3725957466 | Jul 13, 2019 (153) |
| 77 | ACPOP | ss3743823084 | Jul 13, 2019 (153) |
| 78 | ILLUMINA | ss3745160747 | Jul 13, 2019 (153) |
| 79 | EVA | ss3759230685 | Jul 13, 2019 (153) |
| 80 | PAGE_CC | ss3772082249 | Jul 13, 2019 (153) |
| 81 | ILLUMINA | ss3772656731 | Jul 13, 2019 (153) |
| 82 | KHV_HUMAN_GENOMES | ss3822398588 | Jul 13, 2019 (153) |
| 83 | EVA | ss3835927686 | Apr 27, 2020 (154) |
| 84 | EVA | ss3841592347 | Apr 27, 2020 (154) |
| 85 | EVA | ss3847107004 | Apr 27, 2020 (154) |
| 86 | SGDP_PRJ | ss3890256409 | Apr 27, 2020 (154) |
| 87 | KRGDB | ss3940639889 | Apr 27, 2020 (154) |
| 88 | KOGIC | ss3983389234 | Apr 27, 2020 (154) |
| 89 | EVA | ss3984758311 | Apr 26, 2021 (155) |
| 90 | EVA | ss4017873630 | Apr 26, 2021 (155) |
| 91 | TOPMED | ss5105102550 | Apr 26, 2021 (155) |
| 92 | TOMMO_GENOMICS | ss5232039686 | Apr 26, 2021 (155) |
| 93 | 1000Genomes | NC_000022.10 - 19930121 | Oct 12, 2018 (152) |
| 94 | The Avon Longitudinal Study of Parents and Children | NC_000022.10 - 19930121 | Oct 12, 2018 (152) |
| 95 | Genetic variation in the Estonian population | NC_000022.10 - 19930121 | Oct 12, 2018 (152) |
| 96 | The Danish reference pan genome | NC_000022.10 - 19930121 | Apr 27, 2020 (154) |
| 97 | gnomAD - Genomes | NC_000022.11 - 19942598 | Apr 26, 2021 (155) |
| 98 | Genome of the Netherlands Release 5 | NC_000022.10 - 19930121 | Apr 27, 2020 (154) |
| 99 | HapMap | NC_000022.11 - 19942598 | Apr 27, 2020 (154) |
| 100 | KOREAN population from KRGDB | NC_000022.10 - 19930121 | Apr 27, 2020 (154) |
| 101 | Korean Genome Project | NC_000022.11 - 19942598 | Apr 27, 2020 (154) |
| 102 | Northern Sweden | NC_000022.10 - 19930121 | Jul 13, 2019 (153) |
| 103 | The PAGE Study | NC_000022.11 - 19942598 | Jul 13, 2019 (153) |
| 104 | CNV burdens in cranial meningiomas | NC_000022.10 - 19930121 | Apr 26, 2021 (155) |
| 105 | PharmGKB Aggregated | NC_000022.11 - 19942598 | Apr 27, 2020 (154) |
| 106 | Qatari | NC_000022.10 - 19930121 | Apr 27, 2020 (154) |
| 107 | SGDP_PRJ | NC_000022.10 - 19930121 | Apr 27, 2020 (154) |
| 108 | Siberian | NC_000022.10 - 19930121 | Apr 27, 2020 (154) |
| 109 | 8.3KJPN | NC_000022.10 - 19930121 | Apr 26, 2021 (155) |
| 110 | TopMed | NC_000022.11 - 19942598 | Apr 26, 2021 (155) |
| 111 | UK 10K study - Twins | NC_000022.10 - 19930121 | Oct 12, 2018 (152) |
| 112 | ALFA | NC_000022.11 - 19942598 | Apr 26, 2021 (155) |
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs59045144 | May 25, 2008 (130) |
| rs386609682 | Aug 21, 2014 (142) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss91877463, ss112551323, ss167682533, ss255842423, ss283587127, ss287550201, ss481557725, ss1699291709, ss1713731228, ss2635110812, ss3643334823 | NC_000022.9:18310120:A:G | NC_000022.11:19942597:A:G | (self) |
| 80216839, 44381652, 31356815, 5869136, 19773707, 47817283, 17107949, 307892, 20826095, 42273389, 11291379, 90008993, 44381652, ss228618054, ss238022239, ss244151609, ss481587141, ss482559429, ss485573875, ss537468699, ss566560654, ss662483624, ss778973727, ss783232495, ss784186614, ss832492935, ss834435808, ss995222585, ss1082570340, ss1366682429, ss1429219716, ss1579704197, ss1639753622, ss1682747655, ss1752413943, ss1809733892, ss1938784173, ss1959965670, ss2030165111, ss2158775025, ss2413282473, ss2629580684, ss2633862724, ss2704517965, ss2710952855, ss2972984363, ss2985850616, ss3019086015, ss3022171855, ss3352776385, ss3628505955, ss3631815130, ss3633268839, ss3633984227, ss3634860915, ss3635668866, ss3636556550, ss3637421057, ss3638374412, ss3640568216, ss3652633408, ss3685618567, ss3743823084, ss3745160747, ss3759230685, ss3772656731, ss3835927686, ss3841592347, ss3890256409, ss3940639889, ss3984758311, ss4017873630, ss5232039686 | NC_000022.10:19930120:A:G | NC_000022.11:19942597:A:G | (self) |
| 566538963, 2227911, 39767235, 1303718, 7550, 237439934, 380211497, 14772522246, ss2246455617, ss3028920255, ss3374056855, ss3707954569, ss3725957466, ss3772082249, ss3822398588, ss3847107004, ss3983389234, ss5105102550 | NC_000022.11:19942597:A:G | NC_000022.11:19942597:A:G | (self) |
| ss84951, ss12673694, ss44313316, ss65778058, ss74884343, ss84140175, ss105109900, ss119365520, ss157034298, ss160876807, ss174359355 | NT_011519.10:3082270:A:G | NC_000022.11:19942597:A:G | (self) |
| 14772522246 | NC_000022.11:19942597:A:T | NC_000022.11:19942597:A:T |
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 |
| 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 |
| 16027741 | Catechol-O-methyltransferase haplotypes are associated with psychosis in Alzheimer disease. | Sweet RA et al. | 2005 | Molecular psychiatry |
| 16214922 | Polymorphisms and haplotypes in the cytochrome P450 17A1, prolactin, and catechol-O-methyltransferase genes and non-Hodgkin lymphoma risk. | Skibola CF et al. | 2005 | Cancer epidemiology, biomarkers & prevention |
| 16232322 | COMT genetic variation confers risk for psychotic and affective disorders: a case control study. | Funke B et al. | 2005 | Behavioral and brain functions |
| 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 |
| 16816420 | Nonlinear tests for genomewide association studies. | Zhao J et al. | 2006 | Genetics |
| 16837108 | Haplotypes in cathechol-O-methyltransferase gene confer increased risk for psychosis in Alzheimer disease. | Borroni B et al. | 2007 | Neurobiology of aging |
| 16876132 | Catechol-O-methyltransferase (COMT) gene variants predict response to bupropion therapy for tobacco dependence. | Berrettini WH et al. | 2007 | Biological psychiatry |
| 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 |
| 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 |
| 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 |
| 18574484 | The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase. | Mukherjee N et al. | 2010 | Molecular psychiatry |
| 18632656 | Breast cancer risk reduction and membrane-bound catechol O-methyltransferase genetic polymorphisms. | Ji Y et al. | 2008 | Cancer research |
| 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 |
| 19290789 | Association studies of catechol-O-methyltransferase (COMT) gene with schizophrenia and response to antipsychotic treatment. | Gupta M et al. | 2009 | Pharmacogenomics |
| 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 |
| 19721400 | Association between COMT gene and Chinese male schizophrenic patients with violent behavior. | Gu Y et al. | 2009 | Medical science monitor |
| 19911060 | Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint. | Doi N et al. | 2009 | PloS one |
| 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 |
| 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 |
| 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 |
| 21119772 | A Hybrid Machine Learning Method for Fusing fMRI and Genetic Data: Combining both Improves Classification of Schizophrenia. | Yang H et al. | 2010 | Frontiers in human neuroscience |
| 21154838 | ||||
| 21172166 | Pharmacogenetics of antidepressant response. | Porcelli S et al. | 2011 | Journal of psychiatry & neuroscience |
| 21204206 | Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population. | Carter TC et al. | 2011 | American journal of medical genetics. Part A |
| 21217836 | No Association Between Functional Polymorphisms in COMT and MTHFR and Schizophrenia Risk in Korean Population. | Kang HJ et al. | 2010 | Epidemiology and health |
| 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 |
| 21600957 | COMT and age at onset in mood disorders: a replication and extension study. | Massat I et al. | 2011 | Neuroscience letters |
| 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 |
| 21658613 | Host genetics in follicular lymphoma. | Cerhan JR et al. | 2011 | Best practice & research. Clinical haematology |
| 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 |
| 22650965 | Paradox of schizophrenia genetics: is a paradigm shift occurring? | Doi N et al. | 2012 | Behavioral and brain functions |
| 22705295 | Association of MB-COMT polymorphisms with schizophrenia-susceptibility and symptom severity in an African cohort. | Wright GE et al. | 2012 | Progress in neuro-psychopharmacology & biological psychiatry |
| 22856873 | Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. | Pangilinan F et al. | 2012 | BMC medical genetics |
| 23178897 | The catechol-O-methyltransferase gene (COMT) and cognitive function from childhood through adolescence. | Gaysina D et al. | 2013 | Biological psychology |
| 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 |
| 23351565 | Potential role of membrane-bound COMT gene polymorphisms in female depression vulnerability. | Hatzimanolis A et al. | 2013 | Journal of affective disorders |
| 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 |
| 24205329 | Detection of regulatory SNPs in human genome using ChIP-seq ENCODE data. | Bryzgalov LO et al. | 2013 | PloS one |
| 24782743 | Association of COMT and COMT-DRD2 interaction with creative potential. | Zhang S et al. | 2014 | Frontiers in human neuroscience |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 24990354 | Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring. | Liu J et al. | 2015 | Metabolic brain disease |
| 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 |
| 25218601 | Epistasis between polymorphisms in COMT, ESR1, and GCH1 influences COMT enzyme activity and pain. | Smith SB et al. | 2014 | Pain |
| 25320962 | COMT haplotypes modulate associations of antenatal maternal anxiety and neonatal cortical morphology. | Qiu A et al. | 2015 | The American journal of psychiatry |
| 25819021 | A review of pharmacogenetic studies of substance-related disorders. | Jones JD et al. | 2015 | Drug and alcohol dependence |
| 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 |
| 26954460 | COMT genotype is associated with differential expression of muscarinic M1 receptors in human cortex. | Dean B et al. | 2016 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 26974654 | Serotonin and Dopamine Gene Variation and Theory of Mind Decoding Accuracy in Major Depression: A Preliminary Investigation. | Zahavi AY et al. | 2016 | PloS one |
| 27166759 | Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions. | Yang J et al. | 2016 | Molecular psychiatry |
| 27459874 | Evaluation of the iPLEX® ADME PGx Pro Panel and allele frequencies of pharmacogenetic markers in Danes. | Jensen L et al. | 2016 | Clinical biochemistry |
| 27636225 | An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine. | Mnika K et al. | 2016 | Omics |
| 28142104 | A genetic risk factor for major depression and suicidal ideation is mitigated by physical activity. | Taylor MK et al. | 2017 | Psychiatry research |
| 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 |
| 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 |
| 29330410 | The Impact of COMT and Childhood Maltreatment on Suicidal Behaviour in Affective Disorders. | Bernegger A et al. | 2018 | Scientific reports |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 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 |
| 30692067 | [Postpartum depression: association with genetic polymorphisms of noradrenaline metabolic enzymes and the risk factors]. | Ma J et al. | 2019 | Nan fang yi ke da xue xue bao = Journal of Southern Medical University |
| 30706571 | A candidate gene study of risk for dementia in older, postmenopausal women: Results from the Women's Health Initiative Memory Study. | Driscoll I et al. | 2019 | International journal of geriatric psychiatry |
| 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 |
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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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.