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.
rs4646316
Current Build 155
Released April 9, 2021
- Organism
- Homo sapiens
- Position
-
chr22:19964609 (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>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.220080 (58253/264690, TOPMED)T=0.232760 (54323/233386, ALFA)T=0.220302 (30867/140112, GnomAD) (+ 19 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- COMT : Intron Variant
- Publications
- 21 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 | 233386 | C=0.767240 | G=0.000000, T=0.232760 |
| European | Sub | 198880 | C=0.758563 | G=0.000000, T=0.241437 |
| African | Sub | 10616 | C=0.81132 | G=0.00000, T=0.18868 |
| African Others | Sub | 346 | C=0.803 | G=0.000, T=0.197 |
| African American | Sub | 10270 | C=0.81159 | G=0.00000, T=0.18841 |
| Asian | Sub | 826 | C=0.720 | G=0.000, T=0.280 |
| East Asian | Sub | 650 | C=0.717 | G=0.000, T=0.283 |
| Other Asian | Sub | 176 | C=0.733 | G=0.000, T=0.267 |
| Latin American 1 | Sub | 986 | C=0.764 | G=0.000, T=0.236 |
| Latin American 2 | Sub | 9040 | C=0.8532 | G=0.0000, T=0.1468 |
| South Asian | Sub | 5060 | C=0.8587 | G=0.0000, T=0.1413 |
| Other | Sub | 7978 | C=0.7748 | G=0.0000, T=0.2252 |
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=0.779920 | T=0.220080 |
| Allele Frequency Aggregator | Total | Global | 233386 | C=0.767240 | G=0.000000, T=0.232760 |
| Allele Frequency Aggregator | European | Sub | 198880 | C=0.758563 | G=0.000000, T=0.241437 |
| Allele Frequency Aggregator | African | Sub | 10616 | C=0.81132 | G=0.00000, T=0.18868 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 9040 | C=0.8532 | G=0.0000, T=0.1468 |
| Allele Frequency Aggregator | Other | Sub | 7978 | C=0.7748 | G=0.0000, T=0.2252 |
| Allele Frequency Aggregator | South Asian | Sub | 5060 | C=0.8587 | G=0.0000, T=0.1413 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 986 | C=0.764 | G=0.000, T=0.236 |
| Allele Frequency Aggregator | Asian | Sub | 826 | C=0.720 | G=0.000, T=0.280 |
| gnomAD - Genomes | Global | Study-wide | 140112 | C=0.779698 | T=0.220302 |
| gnomAD - Genomes | European | Sub | 75862 | C=0.76709 | T=0.23291 |
| gnomAD - Genomes | African | Sub | 41990 | C=0.80405 | T=0.19595 |
| gnomAD - Genomes | American | Sub | 13654 | C=0.80394 | T=0.19606 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=0.7509 | T=0.2491 |
| gnomAD - Genomes | East Asian | Sub | 3130 | C=0.6888 | T=0.3112 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.7718 | T=0.2282 |
| The PAGE Study | Global | Study-wide | 78690 | C=0.78945 | T=0.21055 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | C=0.80583 | T=0.19417 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.84061 | T=0.15939 |
| The PAGE Study | Asian | Sub | 8314 | C=0.7258 | T=0.2742 |
| The PAGE Study | PuertoRican | Sub | 7916 | C=0.7659 | T=0.2341 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | C=0.6812 | T=0.3188 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.7608 | T=0.2392 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.7696 | T=0.2304 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.8673 | T=0.1327 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.8451 | T=0.1549 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.7746 | T=0.2254 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.832 | T=0.168 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.73658 | T=0.26342 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.7819 | T=0.2181 |
| 1000Genomes | African | Sub | 1322 | C=0.8132 | T=0.1868 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.6776 | T=0.3224 |
| 1000Genomes | Europe | Sub | 1006 | C=0.7535 | T=0.2465 |
| 1000Genomes | South Asian | Sub | 978 | C=0.856 | T=0.144 |
| 1000Genomes | American | Sub | 694 | C=0.811 | T=0.189 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.8132 | T=0.1868 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.7577 | T=0.2423 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.7419 | T=0.2581 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=0.6715 | T=0.3285 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | C=0.7951 | T=0.2049 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.685 | T=0.315 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.819 | T=0.181 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | C=0.800 | T=0.200 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | C=0.759 | T=0.241 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.868 | T=0.132 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.907 | T=0.093 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=0.93 | T=0.07 |
| HapMap | Global | Study-wide | 1886 | C=0.7704 | T=0.2296 |
| HapMap | American | Sub | 768 | C=0.802 | T=0.198 |
| HapMap | African | Sub | 688 | C=0.799 | T=0.201 |
| HapMap | Asian | Sub | 254 | C=0.634 | T=0.366 |
| HapMap | Europe | Sub | 176 | C=0.716 | T=0.284 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.6801 | T=0.3199 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.762 | T=0.238 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 768 | C=0.633 | T=0.367 |
| CNV burdens in cranial meningiomas | CRM | Sub | 768 | C=0.633 | T=0.367 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.805 | T=0.195 |
| Qatari | Global | Study-wide | 216 | C=0.824 | T=0.176 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | C=0.632 | T=0.368 |
| SGDP_PRJ | Global | Study-wide | 206 | C=0.432 | T=0.568 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 88 | C=0.66 | T=0.34 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.82 | T=0.17 |
| Siberian | Global | Study-wide | 26 | C=0.35 | T=0.65 |
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.19964609C>G |
| GRCh38.p13 chr 22 | NC_000022.11:g.19964609C>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.19952132C>G |
| GRCh37.p13 chr 22 | NC_000022.10:g.19952132C>T |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.27870C>G |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.27870C>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| COMT transcript variant 1 | NM_000754.4:c.615+310C>G | N/A | Intron Variant |
| COMT transcript variant 2 |
NM_001135161.2:c.615+310C… NM_001135161.2:c.615+310C>G |
N/A | Intron Variant |
| COMT transcript variant 3 |
NM_001135162.2:c.615+310C… NM_001135162.2:c.615+310C>G |
N/A | Intron Variant |
| COMT transcript variant 5 |
NM_001362828.2:c.615+310C… NM_001362828.2:c.615+310C>G |
N/A | Intron Variant |
| COMT transcript variant 4 | NM_007310.3:c.465+310C>G | N/A | Intron 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 | C= | G | T |
|---|---|---|---|
| GRCh38.p13 chr 22 | NC_000022.11:g.19964609= | NC_000022.11:g.19964609C>G | NC_000022.11:g.19964609C>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.19952132= | NC_000022.10:g.19952132C>G | NC_000022.10:g.19952132C>T |
| COMT RefSeqGene (LRG_1010) | NG_011526.1:g.27870= | NG_011526.1:g.27870C>G | NG_011526.1:g.27870C>T |
| COMT transcript variant 1 | NM_000754.3:c.615+310= | NM_000754.3:c.615+310C>G | NM_000754.3:c.615+310C>T |
| COMT transcript variant 1 | NM_000754.4:c.615+310= | NM_000754.4:c.615+310C>G | NM_000754.4:c.615+310C>T |
| COMT transcript variant 2 | NM_001135161.1:c.615+310= | NM_001135161.1:c.615+310C>G | NM_001135161.1:c.615+310C>T |
| COMT transcript variant 2 | NM_001135161.2:c.615+310= | NM_001135161.2:c.615+310C>G | NM_001135161.2:c.615+310C>T |
| COMT transcript variant 3 | NM_001135162.1:c.615+310= | NM_001135162.1:c.615+310C>G | NM_001135162.1:c.615+310C>T |
| COMT transcript variant 3 | NM_001135162.2:c.615+310= | NM_001135162.2:c.615+310C>G | NM_001135162.2:c.615+310C>T |
| COMT transcript variant 5 | NM_001362828.2:c.615+310= | NM_001362828.2:c.615+310C>G | NM_001362828.2:c.615+310C>T |
| COMT transcript variant 4 | NM_007310.2:c.465+310= | NM_007310.2:c.465+310C>G | NM_007310.2:c.465+310C>T |
| COMT transcript variant 4 | NM_007310.3:c.465+310= | NM_007310.3:c.465+310C>G | NM_007310.3:c.465+310C>T |
| COMT transcript variant X1 | XM_005261229.1:c.615+310= | XM_005261229.1:c.615+310C>G | XM_005261229.1:c.615+310C>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 | RIKENSNPRC | ss6311362 | Feb 20, 2003 (111) |
| 2 | BCM_SSAHASNP | ss11002183 | Jul 11, 2003 (116) |
| 3 | WI_SSAHASNP | ss12525752 | Jul 11, 2003 (116) |
| 4 | EGP_SNPS | ss12673769 | Dec 05, 2003 (119) |
| 5 | SC_SNP | ss13346917 | Dec 05, 2003 (119) |
| 6 | SNP500CANCER | ss48293410 | Mar 13, 2006 (126) |
| 7 | ILLUMINA | ss66619000 | Nov 30, 2006 (127) |
| 8 | ILLUMINA | ss67352707 | Nov 30, 2006 (127) |
| 9 | ILLUMINA | ss67743203 | Nov 30, 2006 (127) |
| 10 | PERLEGEN | ss69277072 | May 17, 2007 (127) |
| 11 | ILLUMINA | ss70812882 | May 24, 2008 (130) |
| 12 | ILLUMINA | ss71393375 | May 17, 2007 (127) |
| 13 | ILLUMINA | ss75475354 | Dec 07, 2007 (129) |
| 14 | AFFY | ss76822174 | Dec 07, 2007 (129) |
| 15 | ILLUMINA | ss79187662 | Dec 15, 2007 (130) |
| 16 | HGSV | ss83388241 | Dec 15, 2007 (130) |
| 17 | KRIBB_YJKIM | ss84303833 | Dec 15, 2007 (130) |
| 18 | 1000GENOMES | ss112551483 | Jan 25, 2009 (130) |
| 19 | ILLUMINA | ss122343063 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss154304009 | Dec 01, 2009 (131) |
| 21 | GMI | ss157034620 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss159480833 | Dec 01, 2009 (131) |
| 23 | ILLUMINA | ss160693416 | Dec 01, 2009 (131) |
| 24 | ILLUMINA | ss171844326 | Jul 04, 2010 (132) |
| 25 | ILLUMINA | ss173766763 | Jul 04, 2010 (132) |
| 26 | BUSHMAN | ss204050454 | Jul 04, 2010 (132) |
| 27 | 1000GENOMES | ss228618149 | Jul 14, 2010 (132) |
| 28 | 1000GENOMES | ss238022306 | Jul 15, 2010 (132) |
| 29 | 1000GENOMES | ss244151665 | Jul 15, 2010 (132) |
| 30 | ILLUMINA | ss244300418 | Jul 04, 2010 (132) |
| 31 | BL | ss255842572 | May 09, 2011 (134) |
| 32 | GMI | ss283587224 | May 04, 2012 (137) |
| 33 | PJP | ss292736322 | May 09, 2011 (134) |
| 34 | ILLUMINA | ss480987562 | May 04, 2012 (137) |
| 35 | ILLUMINA | ss481008093 | May 04, 2012 (137) |
| 36 | ILLUMINA | ss481987809 | Sep 08, 2015 (146) |
| 37 | ILLUMINA | ss485288680 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss537252355 | Sep 08, 2015 (146) |
| 39 | TISHKOFF | ss566560793 | Apr 25, 2013 (138) |
| 40 | SSMP | ss662483750 | Apr 25, 2013 (138) |
| 41 | ILLUMINA | ss778705706 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss783090233 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss784047664 | Sep 08, 2015 (146) |
| 44 | ILLUMINA | ss825518180 | Apr 01, 2015 (144) |
| 45 | ILLUMINA | ss832348696 | Sep 08, 2015 (146) |
| 46 | ILLUMINA | ss832992264 | Jul 13, 2019 (153) |
| 47 | ILLUMINA | ss834164775 | Sep 08, 2015 (146) |
| 48 | EVA-GONL | ss995222804 | Aug 21, 2014 (142) |
| 49 | JMKIDD_LAB | ss1082570470 | Aug 21, 2014 (142) |
| 50 | 1000GENOMES | ss1366683144 | Aug 21, 2014 (142) |
| 51 | DDI | ss1429219787 | Apr 01, 2015 (144) |
| 52 | EVA_GENOME_DK | ss1579704269 | Apr 01, 2015 (144) |
| 53 | EVA_UK10K_ALSPAC | ss1639753963 | Apr 01, 2015 (144) |
| 54 | EVA_UK10K_TWINSUK | ss1682747996 | Apr 01, 2015 (144) |
| 55 | EVA_DECODE | ss1699291909 | Apr 01, 2015 (144) |
| 56 | EVA_SVP | ss1713731249 | Apr 01, 2015 (144) |
| 57 | ILLUMINA | ss1752413982 | Sep 08, 2015 (146) |
| 58 | WEILL_CORNELL_DGM | ss1938784404 | Feb 12, 2016 (147) |
| 59 | ILLUMINA | ss1959965719 | Feb 12, 2016 (147) |
| 60 | GENOMED | ss1969246880 | Jul 19, 2016 (147) |
| 61 | JJLAB | ss2030165218 | Sep 14, 2016 (149) |
| 62 | USC_VALOUEV | ss2158775175 | Dec 20, 2016 (150) |
| 63 | HUMAN_LONGEVITY | ss2246457065 | Dec 20, 2016 (150) |
| 64 | TOPMED | ss2413283959 | Dec 20, 2016 (150) |
| 65 | SYSTEMSBIOZJU | ss2629580759 | Nov 08, 2017 (151) |
| 66 | ILLUMINA | ss2633862785 | Nov 08, 2017 (151) |
| 67 | ILLUMINA | ss2635110819 | Nov 08, 2017 (151) |
| 68 | GRF | ss2704518128 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss2710952874 | Nov 08, 2017 (151) |
| 70 | GNOMAD | ss2972986372 | Nov 08, 2017 (151) |
| 71 | AFFY | ss2985233279 | Nov 08, 2017 (151) |
| 72 | AFFY | ss2985850721 | Nov 08, 2017 (151) |
| 73 | SWEGEN | ss3019086381 | Nov 08, 2017 (151) |
| 74 | ILLUMINA | ss3022171902 | Nov 08, 2017 (151) |
| 75 | BIOINF_KMB_FNS_UNIBA | ss3028920324 | Nov 08, 2017 (151) |
| 76 | CSHL | ss3352776496 | Nov 08, 2017 (151) |
| 77 | TOPMED | ss3374061273 | Nov 08, 2017 (151) |
| 78 | TOPMED | ss3374061274 | Nov 08, 2017 (151) |
| 79 | ILLUMINA | ss3628506022 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3631815172 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3633268867 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3633984257 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3634860955 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3635668893 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3636556587 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3637421087 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3638374447 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3639191046 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3639611682 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3640568256 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3643334855 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3652633454 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3654001343 | Oct 12, 2018 (152) |
| 94 | EGCUT_WGS | ss3685618889 | Jul 13, 2019 (153) |
| 95 | EVA_DECODE | ss3707954969 | Jul 13, 2019 (153) |
| 96 | ILLUMINA | ss3725957498 | Jul 13, 2019 (153) |
| 97 | ACPOP | ss3743823287 | Jul 13, 2019 (153) |
| 98 | ILLUMINA | ss3745160786 | Jul 13, 2019 (153) |
| 99 | EVA | ss3759230936 | Jul 13, 2019 (153) |
| 100 | PAGE_CC | ss3772082280 | Jul 13, 2019 (153) |
| 101 | ILLUMINA | ss3772656769 | Jul 13, 2019 (153) |
| 102 | KHV_HUMAN_GENOMES | ss3822398817 | Jul 13, 2019 (153) |
| 103 | EVA | ss3825965518 | Apr 27, 2020 (154) |
| 104 | EVA | ss3835927806 | Apr 27, 2020 (154) |
| 105 | EVA | ss3841592405 | Apr 27, 2020 (154) |
| 106 | EVA | ss3847107065 | Apr 27, 2020 (154) |
| 107 | HGDP | ss3847684687 | Apr 27, 2020 (154) |
| 108 | SGDP_PRJ | ss3890256814 | Apr 27, 2020 (154) |
| 109 | KRGDB | ss3940640405 | Apr 27, 2020 (154) |
| 110 | KOGIC | ss3983389674 | Apr 27, 2020 (154) |
| 111 | EVA | ss3984758331 | Apr 26, 2021 (155) |
| 112 | EVA | ss3985910180 | Apr 26, 2021 (155) |
| 113 | TOPMED | ss5105108252 | Apr 26, 2021 (155) |
| 114 | TOMMO_GENOMICS | ss5232040589 | Apr 26, 2021 (155) |
| 115 | EVA | ss5237615147 | Apr 26, 2021 (155) |
| 116 | 1000Genomes | NC_000022.10 - 19952132 | Oct 12, 2018 (152) |
| 117 | The Avon Longitudinal Study of Parents and Children | NC_000022.10 - 19952132 | Oct 12, 2018 (152) |
| 118 | Genetic variation in the Estonian population | NC_000022.10 - 19952132 | Oct 12, 2018 (152) |
| 119 | The Danish reference pan genome | NC_000022.10 - 19952132 | Apr 27, 2020 (154) |
| 120 | gnomAD - Genomes | NC_000022.11 - 19964609 | Apr 26, 2021 (155) |
| 121 | Genome of the Netherlands Release 5 | NC_000022.10 - 19952132 | Apr 27, 2020 (154) |
| 122 | HGDP-CEPH-db Supplement 1 | NC_000022.9 - 18332132 | Apr 27, 2020 (154) |
| 123 | HapMap | NC_000022.11 - 19964609 | Apr 27, 2020 (154) |
| 124 | KOREAN population from KRGDB | NC_000022.10 - 19952132 | Apr 27, 2020 (154) |
| 125 | Korean Genome Project | NC_000022.11 - 19964609 | Apr 27, 2020 (154) |
| 126 | Northern Sweden | NC_000022.10 - 19952132 | Jul 13, 2019 (153) |
| 127 | The PAGE Study | NC_000022.11 - 19964609 | Jul 13, 2019 (153) |
| 128 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000022.10 - 19952132 | Apr 26, 2021 (155) |
| 129 | CNV burdens in cranial meningiomas | NC_000022.10 - 19952132 | Apr 26, 2021 (155) |
| 130 | Qatari | NC_000022.10 - 19952132 | Apr 27, 2020 (154) |
| 131 | SGDP_PRJ | NC_000022.10 - 19952132 | Apr 27, 2020 (154) |
| 132 | Siberian | NC_000022.10 - 19952132 | Apr 27, 2020 (154) |
| 133 | 8.3KJPN | NC_000022.10 - 19952132 | Apr 26, 2021 (155) |
| 134 | TopMed | NC_000022.11 - 19964609 | Apr 26, 2021 (155) |
| 135 | UK 10K study - Twins | NC_000022.10 - 19952132 | Oct 12, 2018 (152) |
| 136 | A Vietnamese Genetic Variation Database | NC_000022.10 - 19952132 | Jul 13, 2019 (153) |
| 137 | ALFA | NC_000022.11 - 19964609 | 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) |
|---|---|
| rs58510682 | May 24, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 12012836226, ss3374061273 | NC_000022.11:19964608:C:G | NC_000022.11:19964608:C:G | (self) |
| ss83388241, ss3639191046, ss3639611682 | NC_000022.8:18326685:C:T | NC_000022.11:19964608:C:T | (self) |
| 362579, ss76822174, ss112551483, ss204050454, ss255842572, ss283587224, ss292736322, ss480987562, ss825518180, ss1699291909, ss1713731249, ss2635110819, ss3643334855, ss3847684687 | NC_000022.9:18332131:C:T | NC_000022.11:19964608:C:T | (self) |
| 80217575, 44382034, 31357137, 5869208, 19773913, 47817799, 17108152, 1136107, 307912, 20826326, 42273794, 11291529, 90009896, 44382034, 9792540, ss228618149, ss238022306, ss244151665, ss481008093, ss481987809, ss485288680, ss537252355, ss566560793, ss662483750, ss778705706, ss783090233, ss784047664, ss832348696, ss832992264, ss834164775, ss995222804, ss1082570470, ss1366683144, ss1429219787, ss1579704269, ss1639753963, ss1682747996, ss1752413982, ss1938784404, ss1959965719, ss1969246880, ss2030165218, ss2158775175, ss2413283959, ss2629580759, ss2633862785, ss2704518128, ss2710952874, ss2972986372, ss2985233279, ss2985850721, ss3019086381, ss3022171902, ss3352776496, ss3628506022, ss3631815172, ss3633268867, ss3633984257, ss3634860955, ss3635668893, ss3636556587, ss3637421087, ss3638374447, ss3640568256, ss3652633454, ss3654001343, ss3685618889, ss3743823287, ss3745160786, ss3759230936, ss3772656769, ss3825965518, ss3835927806, ss3841592405, ss3890256814, ss3940640405, ss3984758331, ss3985910180, ss5232040589, ss5237615147 | NC_000022.10:19952131:C:T | NC_000022.11:19964608:C:T | (self) |
| 566544054, 2227948, 39767675, 1303749, 237443589, 380217199, 12012836226, ss2246457065, ss3028920324, ss3374061274, ss3707954969, ss3725957498, ss3772082280, ss3822398817, ss3847107065, ss3983389674, ss5105108252 | NC_000022.11:19964608:C:T | NC_000022.11:19964608:C:T | (self) |
| ss6311362, ss11002183, ss12525752, ss12673769, ss13346917, ss48293410, ss66619000, ss67352707, ss67743203, ss69277072, ss70812882, ss71393375, ss75475354, ss79187662, ss84303833, ss122343063, ss154304009, ss157034620, ss159480833, ss160693416, ss171844326, ss173766763, ss244300418 | NT_011519.10:3104281:C:T | NC_000022.11:19964608: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 |
|---|---|---|---|---|
| 18436194 | Catechol-O-methyltransferase contributes to genetic susceptibility shared among anxiety spectrum phenotypes. | Hettema JM et al. | 2008 | Biological 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 |
| 18937309 | Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study. | Biederman J et al. | 2008 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 19673036 | Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population. | Pal P et al. | 2009 | Croatian medical journal |
| 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 |
| 20150638 | Association of COMT haplotypes and breast cancer risk in caucasian women. | Peterson NB et al. | 2010 | Anticancer research |
| 20551675 | Localizing putative markers in genetic association studies by incorporating linkage disequilibrium into bayesian hierarchical models. | Fridley BL et al. | 2010 | Human heredity |
| 20877297 | Catechol O-methyltransferase pharmacogenomics and selective serotonin reuptake inhibitor response. | Ji Y et al. | 2012 | The pharmacogenomics journal |
| 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 |
| 22021758 | Interaction of early environment, gender and genes of monoamine neurotransmission in the aetiology of depression in a large population-based Finnish birth cohort. | Nyman ES et al. | 2011 | BMJ open |
| 23008195 | Genetic variants in the catechol-o-methyltransferase gene are associated with impulsivity and executive function: relevance for major depression. | Pap D et al. | 2012 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 23248619 | Chemotherapy refractory testicular germ cell tumor is associated with a variant in Armadillo Repeat gene deleted in Velco-Cardio-Facial syndrome (ARVCF). | Fung C et al. | 2012 | Frontiers in endocrinology |
| 23588304 | Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children. | Pussegoda K et al. | 2013 | Clinical pharmacology and therapeutics |
| 25551397 | Influence of genetic variants in TPMT and COMT associated with cisplatin induced hearing loss in patients with cancer: two new cohorts and a meta-analysis reveal significant heterogeneity between cohorts. | Hagleitner MM et al. | 2014 | PloS one |
| 26248682 | Proinflammatory genotype is associated with the frailty phenotype in the English Longitudinal Study of Ageing. | Mekli K et al. | 2016 | Aging clinical and experimental research |
| 27142473 | Pharmacogenomics in Pediatric Patients: Towards Personalized Medicine. | Maagdenberg H et al. | 2016 | Paediatric drugs |
| 28445188 | TPMT, COMT and ACYP2 genetic variants in paediatric cancer patients with cisplatin-induced ototoxicity. | Thiesen S et al. | 2017 | Pharmacogenetics and genomics |
| 29350448 | Clinical and genetic associations for carboplatin-related ototoxicity in children treated for retinoblastoma: A retrospective noncomparative single-institute experience. | Soliman SE et al. | 2018 | Pediatric blood & cancer |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 30113582 | [The analysis of the association of the polymorphic variants of the TPMT, COMT, and ABCC3 genes with the development of hearing disorders induced by the cisplatin treatment]. | Mironovich OL et al. | 2018 | Vestnik otorinolaringologii |
| 32230800 | Influence of Genetic Variation in <i>COMT</i> on Cisplatin-Induced Nephrotoxicity in Cancer Patients. | Agema BC et al. | 2020 | Genes |
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.