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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)
T=0.21055 (16568/78690, PAGE_STUDY)
T=0.26342 (4415/16760, 8.3KJPN)
T=0.2181 (1092/5008, 1000G)
T=0.1868 (837/4480, Estonian)
T=0.2423 (934/3854, ALSPAC)
T=0.2581 (957/3708, TWINSUK)
T=0.3285 (960/2922, KOREAN)
T=0.2049 (427/2084, HGDP_Stanford)
T=0.2296 (433/1886, HapMap)
T=0.3199 (586/1832, Korea1K)
T=0.238 (238/998, GoNL)
T=0.367 (282/768, PRJEB37584)
T=0.195 (117/600, NorthernSweden)
T=0.176 (38/216, Qatari)
T=0.368 (78/212, Vietnamese)
C=0.432 (89/206, SGDP_PRJ)
T=0.34 (30/88, Ancient Sardinia)
T=0.17 (7/40, GENOME_DK)
C=0.35 (9/26, Siberian)
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.

Release Version: 20201027095038
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


Help

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
Help

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.

Genomic Placements
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
Gene: COMT, catechol-O-methyltransferase (plus strand)
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
Help

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.

Not Reported in ClinVar
Help

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
Help

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#.

115 SubSNP, 22 Frequency submissions
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)
Help

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)
Added to this RefSNP Cluster:
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)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

21 citations for rs4646316
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
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top 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.

Software version is: 2.0.1.post676+237644a