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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.

rs5993883

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19950115 (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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.475925 (145474/305666, ALFA)
G=0.498477 (131942/264690, TOPMED)
G=0.490876 (68647/139846, GnomAD) (+ 19 more)
G=0.45416 (35739/78692, PAGE_STUDY)
G=0.36575 (6130/16760, 8.3KJPN)
G=0.4756 (2382/5008, 1000G)
G=0.4310 (1931/4480, Estonian)
T=0.4855 (1871/3854, ALSPAC)
T=0.4582 (1699/3708, TWINSUK)
G=0.2852 (935/3278, PRJNA289433)
G=0.3881 (1137/2930, KOREAN)
G=0.4338 (904/2084, HGDP_Stanford)
G=0.4968 (938/1888, HapMap)
G=0.3832 (702/1832, Korea1K)
T=0.474 (473/998, GoNL)
G=0.398 (284/714, PRJEB37584)
G=0.465 (279/600, NorthernSweden)
T=0.342 (123/360, SGDP_PRJ)
G=0.472 (102/216, Qatari)
G=0.47 (19/40, GENOME_DK)
T=0.30 (12/40, Siberian)
T=0.26 (10/38, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COMT : Intron Variant
Publications
17 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 305666 T=0.475925 G=0.524075
European Sub 265052 T=0.465618 G=0.534382
African Sub 11256 T=0.51670 G=0.48330
African Others Sub 412 T=0.524 G=0.476
African American Sub 10844 T=0.51641 G=0.48359
Asian Sub 3956 T=0.6279 G=0.3721
East Asian Sub 3178 T=0.6164 G=0.3836
Other Asian Sub 778 T=0.675 G=0.325
Latin American 1 Sub 1276 T=0.4773 G=0.5227
Latin American 2 Sub 9366 T=0.6231 G=0.3769
South Asian Sub 5234 T=0.4862 G=0.5138
Other Sub 9526 T=0.5008 G=0.4992


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
Allele Frequency Aggregator Total Global 305666 T=0.475925 G=0.524075
Allele Frequency Aggregator European Sub 265052 T=0.465618 G=0.534382
Allele Frequency Aggregator African Sub 11256 T=0.51670 G=0.48330
Allele Frequency Aggregator Other Sub 9526 T=0.5008 G=0.4992
Allele Frequency Aggregator Latin American 2 Sub 9366 T=0.6231 G=0.3769
Allele Frequency Aggregator South Asian Sub 5234 T=0.4862 G=0.5138
Allele Frequency Aggregator Asian Sub 3956 T=0.6279 G=0.3721
Allele Frequency Aggregator Latin American 1 Sub 1276 T=0.4773 G=0.5227
TopMed Global Study-wide 264690 T=0.501523 G=0.498477
gnomAD - Genomes Global Study-wide 139846 T=0.509124 G=0.490876
gnomAD - Genomes European Sub 75700 T=0.50658 G=0.49342
gnomAD - Genomes African Sub 41926 T=0.51543 G=0.48457
gnomAD - Genomes American Sub 13622 T=0.52650 G=0.47350
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.3243 G=0.6757
gnomAD - Genomes East Asian Sub 3132 T=0.6306 G=0.3694
gnomAD - Genomes Other Sub 2148 T=0.4739 G=0.5261
The PAGE Study Global Study-wide 78692 T=0.54584 G=0.45416
The PAGE Study AfricanAmerican Sub 32512 T=0.51661 G=0.48339
The PAGE Study Mexican Sub 10808 T=0.62546 G=0.37454
The PAGE Study Asian Sub 8316 T=0.6318 G=0.3682
The PAGE Study PuertoRican Sub 7918 T=0.4631 G=0.5369
The PAGE Study NativeHawaiian Sub 4534 T=0.6603 G=0.3397
The PAGE Study Cuban Sub 4230 T=0.4381 G=0.5619
The PAGE Study Dominican Sub 3828 T=0.4517 G=0.5483
The PAGE Study CentralAmerican Sub 2448 T=0.6279 G=0.3721
The PAGE Study SouthAmerican Sub 1982 T=0.6191 G=0.3809
The PAGE Study NativeAmerican Sub 1260 T=0.5802 G=0.4198
The PAGE Study SouthAsian Sub 856 T=0.473 G=0.527
8.3KJPN JAPANESE Study-wide 16760 T=0.63425 G=0.36575
1000Genomes Global Study-wide 5008 T=0.5244 G=0.4756
1000Genomes African Sub 1322 T=0.4864 G=0.5136
1000Genomes East Asian Sub 1008 T=0.6220 G=0.3780
1000Genomes Europe Sub 1006 T=0.4672 G=0.5328
1000Genomes South Asian Sub 978 T=0.492 G=0.508
1000Genomes American Sub 694 T=0.584 G=0.416
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5690 G=0.4310
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4855 G=0.5145
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4582 G=0.5418
MxGDAR/Encodat-PGx Global Study-wide 3278 T=0.7148 G=0.2852
MxGDAR/Encodat-PGx MxGDAR Sub 3278 T=0.7148 G=0.2852
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6119 G=0.3881
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.5662 G=0.4338
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.619 G=0.381
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.524 G=0.476
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.469 G=0.531
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.472 G=0.528
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.541 G=0.459
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.833 G=0.167
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.64 G=0.36
HapMap Global Study-wide 1888 T=0.5032 G=0.4968
HapMap American Sub 768 T=0.518 G=0.482
HapMap African Sub 692 T=0.496 G=0.504
HapMap Asian Sub 252 T=0.556 G=0.444
HapMap Europe Sub 176 T=0.392 G=0.608
Korean Genome Project KOREAN Study-wide 1832 T=0.6168 G=0.3832
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.474 G=0.526
CNV burdens in cranial meningiomas Global Study-wide 714 T=0.602 G=0.398
CNV burdens in cranial meningiomas CRM Sub 714 T=0.602 G=0.398
Northern Sweden ACPOP Study-wide 600 T=0.535 G=0.465
SGDP_PRJ Global Study-wide 360 T=0.342 G=0.658
Qatari Global Study-wide 216 T=0.528 G=0.472
The Danish reference pan genome Danish Study-wide 40 T=0.53 G=0.47
Siberian Global Study-wide 40 T=0.30 G=0.70
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 38 T=0.26 G=0.74
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.19950115T>G
GRCh37.p13 chr 22 NC_000022.10:g.19937638T>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.13376T>G
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 1 NM_000754.4:c.-92+8218T>G N/A Intron Variant
COMT transcript variant 5 NM_001362828.2:c.-386+821…

NM_001362828.2:c.-386+8218T>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
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 T= G
GRCh38.p13 chr 22 NC_000022.11:g.19950115= NC_000022.11:g.19950115T>G
GRCh37.p13 chr 22 NC_000022.10:g.19937638= NC_000022.10:g.19937638T>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.13376= NG_011526.1:g.13376T>G
COMT transcript variant 1 NM_000754.3:c.-92+8218= NM_000754.3:c.-92+8218T>G
COMT transcript variant 1 NM_000754.4:c.-92+8218= NM_000754.4:c.-92+8218T>G
COMT transcript variant 5 NM_001362828.2:c.-386+8218= NM_001362828.2:c.-386+8218T>G
COMT transcript variant X1 XM_005261229.1:c.-386+8218= XM_005261229.1:c.-386+8218T>G
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#.

124 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8287545 Apr 21, 2003 (114)
2 BCM_SSAHASNP ss10999766 Jul 11, 2003 (123)
3 WI_SSAHASNP ss12523677 Jul 11, 2003 (123)
4 SC_SNP ss13346902 Dec 05, 2003 (119)
5 SSAHASNP ss21856100 Apr 05, 2004 (121)
6 ABI ss44323046 Mar 13, 2006 (126)
7 SNP500CANCER ss48293411 Mar 13, 2006 (126)
8 ILLUMINA ss66814196 Nov 30, 2006 (127)
9 ILLUMINA ss67432324 Nov 30, 2006 (127)
10 ILLUMINA ss67788438 Nov 30, 2006 (127)
11 ILLUMINA ss70853105 May 24, 2008 (130)
12 ILLUMINA ss71438852 May 17, 2007 (127)
13 ILLUMINA ss75817378 Dec 06, 2007 (129)
14 AFFY ss76797908 Dec 06, 2007 (129)
15 HGSV ss77480632 Dec 06, 2007 (129)
16 ILLUMINA ss79213596 Dec 14, 2007 (130)
17 KRIBB_YJKIM ss84443561 Dec 14, 2007 (130)
18 BCMHGSC_JDW ss91877505 Mar 24, 2008 (129)
19 1000GENOMES ss112551385 Jan 25, 2009 (130)
20 1000GENOMES ss114035855 Jan 25, 2009 (130)
21 ILLUMINA-UK ss117362027 Feb 14, 2009 (130)
22 ILLUMINA ss122497197 Dec 01, 2009 (131)
23 ENSEMBL ss138335180 Dec 01, 2009 (131)
24 ILLUMINA ss154347716 Dec 01, 2009 (131)
25 GMI ss157034443 Dec 01, 2009 (131)
26 ILLUMINA ss159523988 Dec 01, 2009 (131)
27 ILLUMINA ss160755568 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss167682881 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss168891146 Jul 04, 2010 (132)
30 ILLUMINA ss172076938 Jul 04, 2010 (132)
31 ILLUMINA ss173958268 Jul 04, 2010 (132)
32 BUSHMAN ss204050408 Jul 04, 2010 (132)
33 1000GENOMES ss228618083 Jul 14, 2010 (132)
34 1000GENOMES ss238022265 Jul 15, 2010 (132)
35 1000GENOMES ss244151632 Jul 15, 2010 (132)
36 GMI ss283587170 May 04, 2012 (137)
37 GMI ss287550223 Apr 25, 2013 (138)
38 PJP ss292736289 May 09, 2011 (134)
39 ILLUMINA ss481186276 May 04, 2012 (137)
40 ILLUMINA ss481209183 May 04, 2012 (137)
41 ILLUMINA ss482196374 Sep 08, 2015 (146)
42 ILLUMINA ss485388328 May 04, 2012 (137)
43 ILLUMINA ss537328282 Sep 08, 2015 (146)
44 TISHKOFF ss566560703 Apr 25, 2013 (138)
45 SSMP ss662483675 Apr 25, 2013 (138)
46 ILLUMINA ss778933897 Aug 21, 2014 (142)
47 ILLUMINA ss783139704 Aug 21, 2014 (142)
48 ILLUMINA ss784095992 Aug 21, 2014 (142)
49 ILLUMINA ss825544114 Jul 19, 2016 (147)
50 ILLUMINA ss832398776 Apr 01, 2015 (144)
51 ILLUMINA ss833035257 Aug 21, 2014 (142)
52 ILLUMINA ss833626085 Aug 21, 2014 (142)
53 ILLUMINA ss834395530 Aug 21, 2014 (142)
54 EVA-GONL ss995222666 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1082570394 Aug 21, 2014 (142)
56 1000GENOMES ss1366682643 Aug 21, 2014 (142)
57 DDI ss1429219750 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1579704227 Apr 01, 2015 (144)
59 EVA_UK10K_ALSPAC ss1639753741 Apr 01, 2015 (144)
60 EVA_UK10K_TWINSUK ss1682747774 Apr 01, 2015 (144)
61 EVA_DECODE ss1699291780 Apr 01, 2015 (144)
62 EVA_SVP ss1713731238 Apr 01, 2015 (144)
63 ILLUMINA ss1752413952 Sep 08, 2015 (146)
64 HAMMER_LAB ss1809733932 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1938784243 Feb 12, 2016 (147)
66 ILLUMINA ss1946577577 Feb 12, 2016 (147)
67 ILLUMINA ss1959965675 Feb 12, 2016 (147)
68 GENOMED ss1969246860 Jul 19, 2016 (147)
69 JJLAB ss2030165148 Sep 14, 2016 (149)
70 USC_VALOUEV ss2158775076 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2246456107 Dec 20, 2016 (150)
72 TOPMED ss2413282947 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2629580720 Nov 08, 2017 (151)
74 ILLUMINA ss2633862737 Nov 08, 2017 (151)
75 GRF ss2704518016 Nov 08, 2017 (151)
76 ILLUMINA ss2710952857 Nov 08, 2017 (151)
77 GNOMAD ss2972984985 Nov 08, 2017 (151)
78 AFFY ss2985850640 Nov 08, 2017 (151)
79 SWEGEN ss3019086123 Nov 08, 2017 (151)
80 ILLUMINA ss3022171861 Nov 08, 2017 (151)
81 BIOINF_KMB_FNS_UNIBA ss3028920283 Nov 08, 2017 (151)
82 CSHL ss3352776422 Nov 08, 2017 (151)
83 TOPMED ss3374058190 Nov 08, 2017 (151)
84 ILLUMINA ss3625799473 Oct 12, 2018 (152)
85 ILLUMINA ss3628505970 Oct 12, 2018 (152)
86 ILLUMINA ss3631815143 Oct 12, 2018 (152)
87 ILLUMINA ss3633268848 Oct 12, 2018 (152)
88 ILLUMINA ss3633984236 Oct 12, 2018 (152)
89 ILLUMINA ss3634860924 Oct 12, 2018 (152)
90 ILLUMINA ss3635668875 Oct 12, 2018 (152)
91 ILLUMINA ss3636556559 Oct 12, 2018 (152)
92 ILLUMINA ss3637421066 Oct 12, 2018 (152)
93 ILLUMINA ss3638374422 Oct 12, 2018 (152)
94 ILLUMINA ss3639191043 Oct 12, 2018 (152)
95 ILLUMINA ss3639611679 Oct 12, 2018 (152)
96 ILLUMINA ss3640568225 Oct 12, 2018 (152)
97 ILLUMINA ss3643334833 Oct 12, 2018 (152)
98 ILLUMINA ss3644796312 Oct 12, 2018 (152)
99 URBANLAB ss3651151843 Oct 12, 2018 (152)
100 ILLUMINA ss3652633414 Oct 12, 2018 (152)
101 EGCUT_WGS ss3685618673 Jul 13, 2019 (153)
102 EVA_DECODE ss3707954688 Jul 13, 2019 (153)
103 ILLUMINA ss3725957469 Jul 13, 2019 (153)
104 ACPOP ss3743823156 Jul 13, 2019 (153)
105 ILLUMINA ss3744205014 Jul 13, 2019 (153)
106 ILLUMINA ss3745160756 Jul 13, 2019 (153)
107 EVA ss3759230756 Jul 13, 2019 (153)
108 PAGE_CC ss3772082253 Jul 13, 2019 (153)
109 ILLUMINA ss3772656740 Jul 13, 2019 (153)
110 KHV_HUMAN_GENOMES ss3822398656 Jul 13, 2019 (153)
111 EVA ss3835927727 Apr 27, 2020 (154)
112 EVA ss3841592372 Apr 27, 2020 (154)
113 EVA ss3847107029 Apr 27, 2020 (154)
114 HGDP ss3847684684 Apr 27, 2020 (154)
115 SGDP_PRJ ss3890256528 Apr 27, 2020 (154)
116 KRGDB ss3940640034 Apr 27, 2020 (154)
117 KOGIC ss3983389369 Apr 27, 2020 (154)
118 EVA ss3984450639 Apr 27, 2021 (155)
119 EVA ss3984758315 Apr 27, 2021 (155)
120 EVA ss3985910172 Apr 27, 2021 (155)
121 EVA ss4017873637 Apr 27, 2021 (155)
122 TOPMED ss5105104366 Apr 27, 2021 (155)
123 TOMMO_GENOMICS ss5232039946 Apr 27, 2021 (155)
124 EVA ss5237615134 Apr 27, 2021 (155)
125 1000Genomes NC_000022.10 - 19937638 Oct 12, 2018 (152)
126 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19937638 Oct 12, 2018 (152)
127 Genetic variation in the Estonian population NC_000022.10 - 19937638 Oct 12, 2018 (152)
128 The Danish reference pan genome NC_000022.10 - 19937638 Apr 27, 2020 (154)
129 gnomAD - Genomes NC_000022.11 - 19950115 Apr 27, 2021 (155)
130 Genome of the Netherlands Release 5 NC_000022.10 - 19937638 Apr 27, 2020 (154)
131 HGDP-CEPH-db Supplement 1 NC_000022.9 - 18317638 Apr 27, 2020 (154)
132 HapMap NC_000022.11 - 19950115 Apr 27, 2020 (154)
133 KOREAN population from KRGDB NC_000022.10 - 19937638 Apr 27, 2020 (154)
134 Korean Genome Project NC_000022.11 - 19950115 Apr 27, 2020 (154)
135 Northern Sweden NC_000022.10 - 19937638 Jul 13, 2019 (153)
136 The PAGE Study NC_000022.11 - 19950115 Jul 13, 2019 (153)
137 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000022.10 - 19937638 Apr 27, 2021 (155)
138 CNV burdens in cranial meningiomas NC_000022.10 - 19937638 Apr 27, 2021 (155)
139 MxGDAR/Encodat-PGx NC_000022.10 - 19937638 Apr 27, 2021 (155)
140 Qatari NC_000022.10 - 19937638 Apr 27, 2020 (154)
141 SGDP_PRJ NC_000022.10 - 19937638 Apr 27, 2020 (154)
142 Siberian NC_000022.10 - 19937638 Apr 27, 2020 (154)
143 8.3KJPN NC_000022.10 - 19937638 Apr 27, 2021 (155)
144 TopMed NC_000022.11 - 19950115 Apr 27, 2021 (155)
145 UK 10K study - Twins NC_000022.10 - 19937638 Oct 12, 2018 (152)
146 ALFA NC_000022.11 - 19950115 Apr 27, 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)
rs6518595 Sep 24, 2004 (123)
rs57863481 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77480632, ss3639191043, ss3639611679 NC_000022.8:18312191:T:G NC_000022.11:19950114:T:G (self)
362576, ss76797908, ss91877505, ss112551385, ss114035855, ss117362027, ss160755568, ss167682881, ss168891146, ss204050408, ss283587170, ss287550223, ss292736289, ss481186276, ss825544114, ss1699291780, ss1713731238, ss3643334833, ss3847684684 NC_000022.9:18317637:T:G NC_000022.11:19950114:T:G (self)
80217060, 44381779, 31356921, 5869166, 19773786, 47817428, 17108021, 1136099, 307896, 3640, 20826165, 42273508, 11291430, 90009253, 44381779, ss228618083, ss238022265, ss244151632, ss481209183, ss482196374, ss485388328, ss537328282, ss566560703, ss662483675, ss778933897, ss783139704, ss784095992, ss832398776, ss833035257, ss833626085, ss834395530, ss995222666, ss1082570394, ss1366682643, ss1429219750, ss1579704227, ss1639753741, ss1682747774, ss1752413952, ss1809733932, ss1938784243, ss1946577577, ss1959965675, ss1969246860, ss2030165148, ss2158775076, ss2413282947, ss2629580720, ss2633862737, ss2704518016, ss2710952857, ss2972984985, ss2985850640, ss3019086123, ss3022171861, ss3352776422, ss3625799473, ss3628505970, ss3631815143, ss3633268848, ss3633984236, ss3634860924, ss3635668875, ss3636556559, ss3637421066, ss3638374422, ss3640568225, ss3644796312, ss3652633414, ss3685618673, ss3743823156, ss3744205014, ss3745160756, ss3759230756, ss3772656740, ss3835927727, ss3841592372, ss3890256528, ss3940640034, ss3984450639, ss3984758315, ss3985910172, ss4017873637, ss5232039946, ss5237615134 NC_000022.10:19937637:T:G NC_000022.11:19950114:T:G (self)
566540470, 2227922, 39767370, 1303722, 237441082, 380213313, 650598845, ss2246456107, ss3028920283, ss3374058190, ss3651151843, ss3707954688, ss3725957469, ss3772082253, ss3822398656, ss3847107029, ss3983389369, ss5105104366 NC_000022.11:19950114:T:G NC_000022.11:19950114:T:G (self)
ss8287545, ss10999766, ss12523677, ss13346902, ss21856100, ss44323046, ss48293411, ss66814196, ss67432324, ss67788438, ss70853105, ss71438852, ss75817378, ss79213596, ss84443561, ss122497197, ss138335180, ss154347716, ss157034443, ss159523988, ss172076938, ss173958268 NT_011519.10:3089787:T:G NC_000022.11:19950114:T:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

17 citations for rs5993883
PMID Title Author Year Journal
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
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
20551675 Localizing putative markers in genetic association studies by incorporating linkage disequilibrium into bayesian hierarchical models. Fridley BL et al. 2010 Human heredity
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
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
21910549 Genetic predictors of cue- and stress-induced cigarette craving: an exploratory study. Erblich J et al. 2012 Experimental and clinical psychopharmacology
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
22956598 Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region. Peters MJ et al. 2013 Annals of the rheumatic diseases
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
24782743 Association of COMT and COMT-DRD2 interaction with creative potential. Zhang S et al. 2014 Frontiers in human neuroscience
26282453 Association studies of genomic variants with treatment response to risperidone, clozapine, quetiapine and chlorpromazine in the Chinese Han population. Xu Q et al. 2016 The pharmacogenomics journal
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
30083479 Genetic influences on creativity: an exploration of convergent and divergent thinking. Han W et al. 2018 PeerJ
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30178121 Neuroplasticity, Neurotransmission and Brain-Related Genes in Major Depression and Bipolar Disorder: Focus on Treatment Outcomes in an Asiatic Sample. Calabrò M et al. 2018 Advances in therapy
32119983 Genetic susceptibility to parenting style: DRD2 and COMT influence creativity. Si S et al. 2020 NeuroImage
Help

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