Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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)
G=0.18604 (14637/78676, PAGE_STUDY)
G=0.24714 (4142/16760, 8.3KJPN)
G=0.2266 (1135/5008, 1000G)
G=0.2355 (1055/4480, Estonian)
G=0.2831 (1091/3854, ALSPAC)
G=0.2907 (1078/3708, TWINSUK)
G=0.2894 (848/2930, KOREAN)
G=0.2650 (697/2630, PharmGKB)
G=0.2277 (429/1884, HapMap)
G=0.2893 (530/1832, Korea1K)
G=0.278 (277/998, GoNL)
G=0.299 (222/742, PRJEB37584)
G=0.240 (144/600, NorthernSweden)
G=0.264 (57/216, Qatari)
A=0.406 (86/212, SGDP_PRJ)
G=0.17 (7/40, GENOME_DK)
A=0.31 (8/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COMT : Intron Variant
TXNRD2 : 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.

Release Version: 20201027095038
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


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 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
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.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
Gene: COMT, catechol-O-methyltransferase (plus strand)
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
Gene: TXNRD2, thioredoxin reductase 2 (minus strand) : 2KB Upstream 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
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 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
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#.

92 SubSNP, 20 Frequency submissions
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)
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)
rs59045144 May 25, 2008 (130)
rs386609682 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
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
Help

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

86 citations for rs737865
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
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