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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.

rs174675

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19946528 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.339537 (89872/264690, TOPMED)
T=0.295126 (52598/178222, ALFA)
T=0.321214 (44968/139994, GnomAD) (+ 16 more)
T=0.45167 (7570/16760, 8.3KJPN)
T=0.3870 (1938/5008, 1000G)
T=0.2929 (1312/4480, Estonian)
T=0.2730 (1052/3854, ALSPAC)
T=0.2856 (1059/3708, TWINSUK)
T=0.4314 (1263/2928, KOREAN)
T=0.3641 (758/2082, HGDP_Stanford)
T=0.3704 (697/1882, HapMap)
T=0.279 (278/998, GoNL)
T=0.280 (168/600, NorthernSweden)
T=0.245 (118/482, SGDP_PRJ)
T=0.250 (54/216, Qatari)
T=0.364 (78/214, Vietnamese)
T=0.33 (30/92, Ancient Sardinia)
T=0.21 (11/52, Siberian)
T=0.28 (11/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COMT : Intron Variant
Publications
8 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 178222 T=0.295126 C=0.704874
European Sub 156198 T=0.286233 C=0.713767
African Sub 6698 T=0.3494 C=0.6506
African Others Sub 256 T=0.332 C=0.668
African American Sub 6442 T=0.3500 C=0.6500
Asian Sub 404 T=0.475 C=0.525
East Asian Sub 294 T=0.442 C=0.558
Other Asian Sub 110 T=0.564 C=0.436
Latin American 1 Sub 746 T=0.279 C=0.721
Latin American 2 Sub 2662 T=0.4369 C=0.5631
South Asian Sub 4992 T=0.3682 C=0.6318
Other Sub 6522 T=0.3293 C=0.6707


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 T=0.339537 C=0.660463
Allele Frequency Aggregator Total Global 178222 T=0.295126 C=0.704874
Allele Frequency Aggregator European Sub 156198 T=0.286233 C=0.713767
Allele Frequency Aggregator African Sub 6698 T=0.3494 C=0.6506
Allele Frequency Aggregator Other Sub 6522 T=0.3293 C=0.6707
Allele Frequency Aggregator South Asian Sub 4992 T=0.3682 C=0.6318
Allele Frequency Aggregator Latin American 2 Sub 2662 T=0.4369 C=0.5631
Allele Frequency Aggregator Latin American 1 Sub 746 T=0.279 C=0.721
Allele Frequency Aggregator Asian Sub 404 T=0.475 C=0.525
gnomAD - Genomes Global Study-wide 139994 T=0.321214 C=0.678786
gnomAD - Genomes European Sub 75862 T=0.28421 C=0.71579
gnomAD - Genomes African Sub 41920 T=0.34828 C=0.65172
gnomAD - Genomes American Sub 13632 T=0.42239 C=0.57761
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.2810 C=0.7190
gnomAD - Genomes East Asian Sub 3110 T=0.4405 C=0.5595
gnomAD - Genomes Other Sub 2150 T=0.3470 C=0.6530
8.3KJPN JAPANESE Study-wide 16760 T=0.45167 C=0.54833
1000Genomes Global Study-wide 5008 T=0.3870 C=0.6130
1000Genomes African Sub 1322 T=0.3782 C=0.6218
1000Genomes East Asian Sub 1008 T=0.4266 C=0.5734
1000Genomes Europe Sub 1006 T=0.3072 C=0.6928
1000Genomes South Asian Sub 978 T=0.384 C=0.616
1000Genomes American Sub 694 T=0.465 C=0.535
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.2929 C=0.7071
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.2730 C=0.7270
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.2856 C=0.7144
KOREAN population from KRGDB KOREAN Study-wide 2928 T=0.4314 C=0.5686
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 T=0.3641 C=0.6359
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 T=0.415 C=0.585
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.307 C=0.693
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.271 C=0.729
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.272 C=0.728
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.368 C=0.632
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.662 C=0.338
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.32 C=0.68
HapMap Global Study-wide 1882 T=0.3704 C=0.6296
HapMap American Sub 768 T=0.370 C=0.630
HapMap African Sub 688 T=0.363 C=0.637
HapMap Asian Sub 252 T=0.417 C=0.583
HapMap Europe Sub 174 T=0.333 C=0.667
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.279 C=0.721
Northern Sweden ACPOP Study-wide 600 T=0.280 C=0.720
SGDP_PRJ Global Study-wide 482 T=0.245 C=0.755
Qatari Global Study-wide 216 T=0.250 C=0.750
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.364 C=0.636
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 92 T=0.33 C=0.67
Siberian Global Study-wide 52 T=0.21 C=0.79
The Danish reference pan genome Danish Study-wide 40 T=0.28 C=0.72
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.19946528T>C
GRCh37.p13 chr 22 NC_000022.10:g.19934051T>C
TXNRD2 RefSeqGene (LRG_417) NG_011835.1:g.309A>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.9789T>C
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 1 NM_000754.4:c.-92+4631T>C N/A Intron Variant
COMT transcript variant 5 NM_001362828.2:c.-386+463…

NM_001362828.2:c.-386+4631T>C

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= C
GRCh38.p13 chr 22 NC_000022.11:g.19946528= NC_000022.11:g.19946528T>C
GRCh37.p13 chr 22 NC_000022.10:g.19934051= NC_000022.10:g.19934051T>C
TXNRD2 RefSeqGene (LRG_417) NG_011835.1:g.309= NG_011835.1:g.309A>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.9789= NG_011526.1:g.9789T>C
COMT transcript variant 1 NM_000754.3:c.-92+4631= NM_000754.3:c.-92+4631T>C
COMT transcript variant 1 NM_000754.4:c.-92+4631= NM_000754.4:c.-92+4631T>C
COMT transcript variant 5 NM_001362828.2:c.-386+4631= NM_001362828.2:c.-386+4631T>C
COMT transcript variant X1 XM_005261229.1:c.-386+4631= XM_005261229.1:c.-386+4631T>C
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#.

117 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss232542 Jul 12, 2000 (79)
2 SC_JCM ss506929 Jul 16, 2000 (80)
3 KWOK ss1058094 Oct 04, 2000 (86)
4 KWOK ss1750380 Oct 18, 2000 (87)
5 BCM_SSAHASNP ss11003754 Jul 11, 2003 (116)
6 EGP_SNPS ss12673711 Dec 05, 2003 (123)
7 CSHL-HAPMAP ss20140671 Feb 27, 2004 (120)
8 ABI ss44318542 Mar 13, 2006 (126)
9 ILLUMINA ss66706275 Nov 29, 2006 (127)
10 ILLUMINA ss67186781 Nov 29, 2006 (127)
11 ILLUMINA ss67562320 Nov 29, 2006 (127)
12 ILLUMINA ss70664869 May 25, 2008 (130)
13 ILLUMINA ss71226518 May 16, 2007 (127)
14 ILLUMINA ss75662743 Dec 07, 2007 (129)
15 HGSV ss77464809 Dec 07, 2007 (129)
16 HGSV ss78332170 Dec 07, 2007 (129)
17 ILLUMINA ss79091233 Dec 15, 2007 (130)
18 KRIBB_YJKIM ss83376866 Dec 15, 2007 (130)
19 BCMHGSC_JDW ss91877481 Mar 24, 2008 (129)
20 HUMANGENOME_JCVI ss96114939 Feb 06, 2009 (130)
21 SNP500CANCER ss105435888 Feb 06, 2009 (130)
22 BGI ss106219091 Feb 06, 2009 (130)
23 1000GENOMES ss112551357 Jan 25, 2009 (130)
24 ILLUMINA ss121798309 Dec 01, 2009 (131)
25 ENSEMBL ss138335169 Dec 01, 2009 (131)
26 ILLUMINA ss153681327 Dec 01, 2009 (131)
27 GMI ss157034393 Dec 01, 2009 (131)
28 ILLUMINA ss159318960 Dec 01, 2009 (131)
29 ILLUMINA ss160444610 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss167682758 Jul 04, 2010 (132)
31 ILLUMINA ss170785462 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss171832634 Jul 04, 2010 (132)
33 ILLUMINA ss172834469 Jul 04, 2010 (132)
34 BCM-HGSC-SUB ss208817993 Jul 04, 2010 (132)
35 1000GENOMES ss212102120 Jul 14, 2010 (132)
36 1000GENOMES ss228618074 Jul 14, 2010 (132)
37 1000GENOMES ss238022257 Jul 15, 2010 (132)
38 1000GENOMES ss244151623 Jul 15, 2010 (132)
39 BL ss255842453 May 09, 2011 (134)
40 GMI ss283587148 May 04, 2012 (137)
41 GMI ss287550210 Apr 25, 2013 (138)
42 PJP ss292736277 May 09, 2011 (134)
43 ILLUMINA ss480243640 May 04, 2012 (137)
44 ILLUMINA ss480254446 May 04, 2012 (137)
45 ILLUMINA ss480994494 Sep 08, 2015 (146)
46 ILLUMINA ss484919771 May 04, 2012 (137)
47 ILLUMINA ss536970259 Sep 08, 2015 (146)
48 TISHKOFF ss566560684 Apr 25, 2013 (138)
49 SSMP ss662483652 Apr 25, 2013 (138)
50 ILLUMINA ss779036136 Aug 21, 2014 (142)
51 ILLUMINA ss782906210 Aug 21, 2014 (142)
52 ILLUMINA ss783869491 Aug 21, 2014 (142)
53 ILLUMINA ss825421751 Apr 01, 2015 (144)
54 ILLUMINA ss832161081 Apr 01, 2015 (144)
55 ILLUMINA ss832830998 Aug 21, 2014 (142)
56 ILLUMINA ss833421828 Aug 21, 2014 (142)
57 ILLUMINA ss834498917 Aug 21, 2014 (142)
58 EVA-GONL ss995222623 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1082570369 Aug 21, 2014 (142)
60 1000GENOMES ss1366682542 Aug 21, 2014 (142)
61 DDI ss1429219733 Apr 01, 2015 (144)
62 EVA_GENOME_DK ss1579704211 Apr 01, 2015 (144)
63 EVA_UK10K_ALSPAC ss1639753679 Apr 01, 2015 (144)
64 EVA_UK10K_TWINSUK ss1682747712 Apr 01, 2015 (144)
65 EVA_DECODE ss1699291740 Apr 01, 2015 (144)
66 EVA_SVP ss1713731235 Apr 01, 2015 (144)
67 ILLUMINA ss1752413950 Sep 08, 2015 (146)
68 HAMMER_LAB ss1809733919 Sep 08, 2015 (146)
69 WEILL_CORNELL_DGM ss1938784215 Feb 12, 2016 (147)
70 GENOMED ss1969246851 Jul 19, 2016 (147)
71 JJLAB ss2030165132 Sep 14, 2016 (149)
72 USC_VALOUEV ss2158775050 Dec 20, 2016 (150)
73 HUMAN_LONGEVITY ss2246455885 Dec 20, 2016 (150)
74 TOPMED ss2413282722 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2629580704 Nov 08, 2017 (151)
76 ILLUMINA ss2633862735 Nov 08, 2017 (151)
77 GRF ss2704517987 Nov 08, 2017 (151)
78 GNOMAD ss2972984680 Nov 08, 2017 (151)
79 AFFY ss2985850629 Nov 08, 2017 (151)
80 SWEGEN ss3019086067 Nov 08, 2017 (151)
81 BIOINF_KMB_FNS_UNIBA ss3028920270 Nov 08, 2017 (151)
82 CSHL ss3352776405 Nov 08, 2017 (151)
83 TOPMED ss3374057549 Nov 08, 2017 (151)
84 ILLUMINA ss3628505967 Oct 12, 2018 (152)
85 ILLUMINA ss3631815141 Oct 12, 2018 (152)
86 ILLUMINA ss3633268846 Oct 12, 2018 (152)
87 ILLUMINA ss3633984234 Oct 12, 2018 (152)
88 ILLUMINA ss3634860922 Oct 12, 2018 (152)
89 ILLUMINA ss3635668873 Oct 12, 2018 (152)
90 ILLUMINA ss3636556557 Oct 12, 2018 (152)
91 ILLUMINA ss3637421064 Oct 12, 2018 (152)
92 ILLUMINA ss3638374419 Oct 12, 2018 (152)
93 ILLUMINA ss3639191042 Oct 12, 2018 (152)
94 ILLUMINA ss3639611678 Oct 12, 2018 (152)
95 ILLUMINA ss3640568223 Oct 12, 2018 (152)
96 ILLUMINA ss3643334830 Oct 12, 2018 (152)
97 URBANLAB ss3651151829 Oct 12, 2018 (152)
98 EGCUT_WGS ss3685618614 Jul 13, 2019 (153)
99 EVA_DECODE ss3707954622 Jul 13, 2019 (153)
100 ACPOP ss3743823112 Jul 13, 2019 (153)
101 ILLUMINA ss3745160754 Jul 13, 2019 (153)
102 EVA ss3759230721 Jul 13, 2019 (153)
103 ILLUMINA ss3772656738 Jul 13, 2019 (153)
104 PACBIO ss3788793321 Jul 13, 2019 (153)
105 PACBIO ss3793664419 Jul 13, 2019 (153)
106 PACBIO ss3798550742 Jul 13, 2019 (153)
107 KHV_HUMAN_GENOMES ss3822398627 Jul 13, 2019 (153)
108 EVA ss3835927708 Apr 27, 2020 (154)
109 EVA ss3841592361 Apr 27, 2020 (154)
110 EVA ss3847107018 Apr 27, 2020 (154)
111 HGDP ss3847684683 Apr 27, 2020 (154)
112 SGDP_PRJ ss3890256472 Apr 27, 2020 (154)
113 KRGDB ss3940639949 Apr 27, 2020 (154)
114 EVA ss3985910170 Apr 26, 2021 (155)
115 EVA ss4017873635 Apr 26, 2021 (155)
116 TOPMED ss5105103530 Apr 26, 2021 (155)
117 TOMMO_GENOMICS ss5232039808 Apr 26, 2021 (155)
118 1000Genomes NC_000022.10 - 19934051 Oct 12, 2018 (152)
119 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19934051 Oct 12, 2018 (152)
120 Genetic variation in the Estonian population NC_000022.10 - 19934051 Oct 12, 2018 (152)
121 The Danish reference pan genome NC_000022.10 - 19934051 Apr 27, 2020 (154)
122 gnomAD - Genomes NC_000022.11 - 19946528 Apr 26, 2021 (155)
123 Genome of the Netherlands Release 5 NC_000022.10 - 19934051 Apr 27, 2020 (154)
124 HGDP-CEPH-db Supplement 1 NC_000022.9 - 18314051 Apr 27, 2020 (154)
125 HapMap NC_000022.11 - 19946528 Apr 27, 2020 (154)
126 KOREAN population from KRGDB NC_000022.10 - 19934051 Apr 27, 2020 (154)
127 Northern Sweden NC_000022.10 - 19934051 Jul 13, 2019 (153)
128 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000022.10 - 19934051 Apr 26, 2021 (155)
129 Qatari NC_000022.10 - 19934051 Apr 27, 2020 (154)
130 SGDP_PRJ NC_000022.10 - 19934051 Apr 27, 2020 (154)
131 Siberian NC_000022.10 - 19934051 Apr 27, 2020 (154)
132 8.3KJPN NC_000022.10 - 19934051 Apr 26, 2021 (155)
133 TopMed NC_000022.11 - 19946528 Apr 26, 2021 (155)
134 UK 10K study - Twins NC_000022.10 - 19934051 Oct 12, 2018 (152)
135 A Vietnamese Genetic Variation Database NC_000022.10 - 19934051 Jul 13, 2019 (153)
136 ALFA NC_000022.11 - 19946528 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)
rs1210730 Oct 23, 2000 (87)
rs9332330 Sep 24, 2004 (123)
rs60381112 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77464809, ss78332170, ss3639191042, ss3639611678 NC_000022.8:18308604:T:C NC_000022.11:19946527:T:C (self)
362575, ss91877481, ss112551357, ss160444610, ss167682758, ss171832634, ss208817993, ss212102120, ss255842453, ss283587148, ss287550210, ss292736277, ss480243640, ss825421751, ss1699291740, ss1713731235, ss3643334830, ss3847684683 NC_000022.9:18314050:T:C NC_000022.11:19946527:T:C (self)
80216958, 44381715, 31356862, 5869150, 19773743, 47817343, 17107977, 1136097, 20826137, 42273452, 11291404, 90009115, 44381715, 9792464, ss228618074, ss238022257, ss244151623, ss480254446, ss480994494, ss484919771, ss536970259, ss566560684, ss662483652, ss779036136, ss782906210, ss783869491, ss832161081, ss832830998, ss833421828, ss834498917, ss995222623, ss1082570369, ss1366682542, ss1429219733, ss1579704211, ss1639753679, ss1682747712, ss1752413950, ss1809733919, ss1938784215, ss1969246851, ss2030165132, ss2158775050, ss2413282722, ss2629580704, ss2633862735, ss2704517987, ss2972984680, ss2985850629, ss3019086067, ss3352776405, ss3628505967, ss3631815141, ss3633268846, ss3633984234, ss3634860922, ss3635668873, ss3636556557, ss3637421064, ss3638374419, ss3640568223, ss3685618614, ss3743823112, ss3745160754, ss3759230721, ss3772656738, ss3788793321, ss3793664419, ss3798550742, ss3835927708, ss3841592361, ss3890256472, ss3940639949, ss3985910170, ss4017873635, ss5232039808 NC_000022.10:19934050:T:C NC_000022.11:19946527:T:C (self)
566539745, 2227919, 237440563, 380212477, 1433196409, ss2246455885, ss3028920270, ss3374057549, ss3651151829, ss3707954622, ss3822398627, ss3847107018, ss5105103530 NC_000022.11:19946527:T:C NC_000022.11:19946527:T:C (self)
ss232542, ss506929, ss1058094, ss1750380, ss11003754, ss12673711, ss20140671, ss44318542, ss66706275, ss67186781, ss67562320, ss70664869, ss71226518, ss75662743, ss79091233, ss83376866, ss96114939, ss105435888, ss106219091, ss121798309, ss138335169, ss153681327, ss157034393, ss159318960, ss170785462, ss172834469 NT_011519.10:3086200:T:C NC_000022.11:19946527:T:C (self)
Help

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

8 citations for rs174675
PMID Title Author Year Journal
18574484 The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase. Mukherjee N et al. 2010 Molecular 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
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
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
24782743 Association of COMT and COMT-DRD2 interaction with creative potential. Zhang S et al. 2014 Frontiers in human neuroscience
25293959 Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects. Pangilinan F et al. 2014 BMC medical genetics
32533012 Genetic variations in catechol-O-methyltransferase gene are associated with levodopa response variability in Chinese patients with Parkinson's disease. Zhao C et al. 2020 Scientific reports
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