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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.

rs6267

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19962740 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.003454 (682/197428, ALFA)
T=0.08204 (1375/16760, 8.3KJPN)
T=0.0134 (67/5008, 1000G) (+ 17 more)
T=0.0161 (72/4480, Estonian)
T=0.0003 (1/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
T=0.0516 (164/3180, PRJNA289433)
T=0.0973 (285/2928, KOREAN)
T=0.025 (21/856, HapMap)
T=0.061 (47/774, PRJEB37584)
T=0.007 (4/600, NorthernSweden)
T=0.002 (1/534, MGP)
T=0.028 (10/358, PharmGKB)
T=0.037 (11/298, FINRISK)
T=0.005 (1/216, Qatari)
T=0.023 (5/216, Vietnamese)
G=0.50 (12/24, SGDP_PRJ)
T=0.50 (12/24, SGDP_PRJ)
G=0.5 (3/6, Siberian)
T=0.5 (3/6, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
COMT : Missense Variant
MIR4761 : 2KB Upstream 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 197428 G=0.996546 A=0.000000, T=0.003454
European Sub 172614 G=0.998233 A=0.000000, T=0.001767
African Sub 5240 G=0.9994 A=0.0000, T=0.0006
African Others Sub 152 G=1.000 A=0.000, T=0.000
African American Sub 5088 G=0.9994 A=0.0000, T=0.0006
Asian Sub 3112 G=0.9383 A=0.0000, T=0.0617
East Asian Sub 1894 G=0.9398 A=0.0000, T=0.0602
Other Asian Sub 1218 G=0.9360 A=0.0000, T=0.0640
Latin American 1 Sub 504 G=0.988 A=0.000, T=0.012
Latin American 2 Sub 598 G=0.998 A=0.000, T=0.002
South Asian Sub 98 G=1.00 A=0.00, T=0.00
Other Sub 15262 G=0.98853 A=0.00000, T=0.01147


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 197428 G=0.996546 A=0.000000, T=0.003454
Allele Frequency Aggregator European Sub 172614 G=0.998233 A=0.000000, T=0.001767
Allele Frequency Aggregator Other Sub 15262 G=0.98853 A=0.00000, T=0.01147
Allele Frequency Aggregator African Sub 5240 G=0.9994 A=0.0000, T=0.0006
Allele Frequency Aggregator Asian Sub 3112 G=0.9383 A=0.0000, T=0.0617
Allele Frequency Aggregator Latin American 2 Sub 598 G=0.998 A=0.000, T=0.002
Allele Frequency Aggregator Latin American 1 Sub 504 G=0.988 A=0.000, T=0.012
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, T=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.91796 T=0.08204
1000Genomes Global Study-wide 5008 G=0.9866 T=0.0134
1000Genomes African Sub 1322 G=0.9992 T=0.0008
1000Genomes East Asian Sub 1008 G=0.9653 T=0.0347
1000Genomes Europe Sub 1006 G=0.9930 T=0.0070
1000Genomes South Asian Sub 978 G=0.999 T=0.001
1000Genomes American Sub 694 G=0.967 T=0.033
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9839 T=0.0161
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9997 T=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=1.0000 T=0.0000
MxGDAR/Encodat-PGx Global Study-wide 3180 G=0.9484 T=0.0516
MxGDAR/Encodat-PGx MxGDAR Sub 3180 G=0.9484 T=0.0516
KOREAN population from KRGDB KOREAN Study-wide 2928 G=0.9027 T=0.0973
HapMap Global Study-wide 856 G=0.975 T=0.025
HapMap American Sub 492 G=0.980 T=0.020
HapMap Asian Sub 244 G=0.955 T=0.045
HapMap African Sub 120 G=1.000 T=0.000
CNV burdens in cranial meningiomas Global Study-wide 774 G=0.939 T=0.061
CNV burdens in cranial meningiomas CRM Sub 774 G=0.939 T=0.061
Northern Sweden ACPOP Study-wide 600 G=0.993 T=0.007
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 T=0.002
PharmGKB Aggregated Global Study-wide 358 G=0.972 T=0.028
PharmGKB Aggregated PA150017659 Sub 358 G=0.972 T=0.028
FINRISK Finnish from FINRISK project Study-wide 298 G=0.963 T=0.037
Qatari Global Study-wide 216 G=0.995 T=0.005
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.977 T=0.023
SGDP_PRJ Global Study-wide 24 G=0.50 T=0.50
Siberian Global Study-wide 6 G=0.5 T=0.5
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.19962740G>A
GRCh38.p13 chr 22 NC_000022.11:g.19962740G>T
GRCh37.p13 chr 22 NC_000022.10:g.19950263G>A
GRCh37.p13 chr 22 NC_000022.10:g.19950263G>T
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26001G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26001G>T
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 3 NM_001135162.2:c.214G>A A [GCA] > T [ACA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001128634.1:p.Ala72Thr A (Ala) > T (Thr) Missense Variant
COMT transcript variant 3 NM_001135162.2:c.214G>T A [GCA] > S [TCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001128634.1:p.Ala72Ser A (Ala) > S (Ser) Missense Variant
COMT transcript variant 2 NM_001135161.2:c.214G>A A [GCA] > T [ACA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001128633.1:p.Ala72Thr A (Ala) > T (Thr) Missense Variant
COMT transcript variant 2 NM_001135161.2:c.214G>T A [GCA] > S [TCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001128633.1:p.Ala72Ser A (Ala) > S (Ser) Missense Variant
COMT transcript variant 5 NM_001362828.2:c.214G>A A [GCA] > T [ACA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001349757.1:p.Ala72Thr A (Ala) > T (Thr) Missense Variant
COMT transcript variant 5 NM_001362828.2:c.214G>T A [GCA] > S [TCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001349757.1:p.Ala72Ser A (Ala) > S (Ser) Missense Variant
COMT transcript variant 4 NM_007310.3:c.64G>A A [GCA] > T [ACA] Coding Sequence Variant
catechol O-methyltransferase isoform S-COMT NP_009294.1:p.Ala22Thr A (Ala) > T (Thr) Missense Variant
COMT transcript variant 4 NM_007310.3:c.64G>T A [GCA] > S [TCA] Coding Sequence Variant
catechol O-methyltransferase isoform S-COMT NP_009294.1:p.Ala22Ser A (Ala) > S (Ser) Missense Variant
COMT transcript variant 1 NM_000754.4:c.214G>A A [GCA] > T [ACA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_000745.1:p.Ala72Thr A (Ala) > T (Thr) Missense Variant
COMT transcript variant 1 NM_000754.4:c.214G>T A [GCA] > S [TCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_000745.1:p.Ala72Ser A (Ala) > S (Ser) Missense Variant
Gene: MIR4761, microRNA 4761 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR4761 transcript NR_039918.1: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.

Allele: T (allele ID: 32631 )
ClinVar Accession Disease Names Clinical Significance
RCV000019157.2 Schizophrenia, susceptibility to Risk-Factor
RCV001028887.1 Tramadol response Drug-Response
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 G= A T
GRCh38.p13 chr 22 NC_000022.11:g.19962740= NC_000022.11:g.19962740G>A NC_000022.11:g.19962740G>T
GRCh37.p13 chr 22 NC_000022.10:g.19950263= NC_000022.10:g.19950263G>A NC_000022.10:g.19950263G>T
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26001= NG_011526.1:g.26001G>A NG_011526.1:g.26001G>T
COMT transcript variant 1 NM_000754.4:c.214= NM_000754.4:c.214G>A NM_000754.4:c.214G>T
COMT transcript variant 1 NM_000754.3:c.214= NM_000754.3:c.214G>A NM_000754.3:c.214G>T
COMT transcript variant 4 NM_007310.3:c.64= NM_007310.3:c.64G>A NM_007310.3:c.64G>T
COMT transcript variant 4 NM_007310.2:c.64= NM_007310.2:c.64G>A NM_007310.2:c.64G>T
COMT transcript variant 5 NM_001362828.2:c.214= NM_001362828.2:c.214G>A NM_001362828.2:c.214G>T
COMT transcript variant 5 NM_001362828.1:c.214= NM_001362828.1:c.214G>A NM_001362828.1:c.214G>T
COMT transcript variant 2 NM_001135161.2:c.214= NM_001135161.2:c.214G>A NM_001135161.2:c.214G>T
COMT transcript variant 2 NM_001135161.1:c.214= NM_001135161.1:c.214G>A NM_001135161.1:c.214G>T
COMT transcript variant 3 NM_001135162.2:c.214= NM_001135162.2:c.214G>A NM_001135162.2:c.214G>T
COMT transcript variant 3 NM_001135162.1:c.214= NM_001135162.1:c.214G>A NM_001135162.1:c.214G>T
catechol O-methyltransferase isoform MB-COMT NP_000745.1:p.Ala72= NP_000745.1:p.Ala72Thr NP_000745.1:p.Ala72Ser
catechol O-methyltransferase isoform S-COMT NP_009294.1:p.Ala22= NP_009294.1:p.Ala22Thr NP_009294.1:p.Ala22Ser
catechol O-methyltransferase isoform MB-COMT NP_001349757.1:p.Ala72= NP_001349757.1:p.Ala72Thr NP_001349757.1:p.Ala72Ser
catechol O-methyltransferase isoform MB-COMT NP_001128633.1:p.Ala72= NP_001128633.1:p.Ala72Thr NP_001128633.1:p.Ala72Ser
catechol O-methyltransferase isoform MB-COMT NP_001128634.1:p.Ala72= NP_001128634.1:p.Ala72Thr NP_001128634.1:p.Ala72Ser
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#.

95 SubSNP, 26 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF-CSNP ss7891 Sep 19, 2000 (52)
2 YUSUKE ss3194615 Aug 15, 2001 (98)
3 UWGC ss4479991 Jul 03, 2002 (106)
4 RIKENSNPRC ss6311515 Feb 20, 2003 (111)
5 SNP500CANCER ss6903718 Mar 31, 2003 (113)
6 EGP_SNPS ss12673755 Dec 05, 2003 (119)
7 IMCJ-GDT ss22886945 Apr 05, 2004 (121)
8 PERLEGEN ss24211194 Sep 20, 2004 (123)
9 EGP_SNPS ss66862089 Nov 29, 2006 (127)
10 PERLEGEN ss69277075 May 16, 2007 (127)
11 ILLUMINA ss74876661 Dec 07, 2007 (129)
12 PHARMGKB_AB_DME ss84156111 Dec 15, 2007 (130)
13 ILLUMINA ss160769687 Dec 01, 2009 (131)
14 OMICIA ss169702270 Aug 28, 2012 (137)
15 ILLUMINA ss173991783 Jul 04, 2010 (132)
16 OMIM-CURATED-RECORDS ss275514029 Nov 22, 2010 (133)
17 1000GENOMES ss341087254 May 09, 2011 (134)
18 NHLBI-ESP ss342536607 May 09, 2011 (134)
19 ILLUMINA ss481228915 May 04, 2012 (137)
20 ILLUMINA ss481252483 May 04, 2012 (137)
21 ILLUMINA ss482238878 Sep 08, 2015 (146)
22 ILLUMINA ss485409792 May 04, 2012 (137)
23 1000GENOMES ss491188310 May 04, 2012 (137)
24 EXOME_CHIP ss491568464 May 04, 2012 (137)
25 CLINSEQ_SNP ss491819527 May 04, 2012 (137)
26 ILLUMINA ss783150354 Sep 08, 2015 (146)
27 ILLUMINA ss783439067 Sep 08, 2015 (146)
28 ILLUMINA ss832409543 Sep 08, 2015 (146)
29 JMKIDD_LAB ss1067603852 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1082570459 Aug 21, 2014 (142)
31 1000GENOMES ss1366683078 Aug 21, 2014 (142)
32 EVA_FINRISK ss1584126410 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1639753929 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1682747962 Apr 01, 2015 (144)
35 EVA_EXAC ss1694228858 Apr 01, 2015 (144)
36 EVA_EXAC ss1694228859 Apr 01, 2015 (144)
37 EVA_MGP ss1711560471 Apr 01, 2015 (144)
38 EVA_SVP ss1713731244 Apr 01, 2015 (144)
39 ILLUMINA ss1752413966 Sep 08, 2015 (146)
40 ILLUMINA ss1752413967 Sep 08, 2015 (146)
41 ILLUMINA ss1917953432 Feb 12, 2016 (147)
42 WEILL_CORNELL_DGM ss1938784387 Feb 12, 2016 (147)
43 ILLUMINA ss1946577606 Feb 12, 2016 (147)
44 ILLUMINA ss1959965699 Feb 12, 2016 (147)
45 USC_VALOUEV ss2158775165 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2246456941 Dec 20, 2016 (150)
47 TOPMED ss2413283823 Dec 20, 2016 (150)
48 ILLUMINA ss2633862764 Nov 08, 2017 (151)
49 GRF ss2704518120 Nov 08, 2017 (151)
50 ILLUMINA ss2710952864 Nov 08, 2017 (151)
51 GNOMAD ss2744959896 Nov 08, 2017 (151)
52 GNOMAD ss2750498414 Nov 08, 2017 (151)
53 GNOMAD ss2972986206 Nov 08, 2017 (151)
54 AFFY ss2985233268 Nov 08, 2017 (151)
55 AFFY ss2985850701 Nov 08, 2017 (151)
56 SWEGEN ss3019086359 Nov 08, 2017 (151)
57 ILLUMINA ss3022171886 Nov 08, 2017 (151)
58 TOPMED ss3374060870 Nov 08, 2017 (151)
59 TOPMED ss3374060871 Nov 08, 2017 (151)
60 ILLUMINA ss3633268860 Oct 12, 2018 (152)
61 ILLUMINA ss3633984249 Oct 12, 2018 (152)
62 ILLUMINA ss3634860939 Oct 12, 2018 (152)
63 ILLUMINA ss3634860940 Oct 12, 2018 (152)
64 ILLUMINA ss3635668887 Oct 12, 2018 (152)
65 ILLUMINA ss3636556576 Oct 12, 2018 (152)
66 ILLUMINA ss3637421079 Oct 12, 2018 (152)
67 ILLUMINA ss3638374437 Oct 12, 2018 (152)
68 ILLUMINA ss3640568240 Oct 12, 2018 (152)
69 ILLUMINA ss3640568241 Oct 12, 2018 (152)
70 ILLUMINA ss3643334845 Oct 12, 2018 (152)
71 ILLUMINA ss3644796321 Oct 12, 2018 (152)
72 ILLUMINA ss3652633438 Oct 12, 2018 (152)
73 ILLUMINA ss3654001332 Oct 12, 2018 (152)
74 EGCUT_WGS ss3685618861 Jul 13, 2019 (153)
75 ILLUMINA ss3725957485 Jul 13, 2019 (153)
76 ACPOP ss3743823276 Jul 13, 2019 (153)
77 ILLUMINA ss3744500490 Jul 13, 2019 (153)
78 ILLUMINA ss3745160770 Jul 13, 2019 (153)
79 ILLUMINA ss3745160771 Jul 13, 2019 (153)
80 EVA ss3759230909 Jul 13, 2019 (153)
81 ILLUMINA ss3772656753 Jul 13, 2019 (153)
82 ILLUMINA ss3772656754 Jul 13, 2019 (153)
83 KHV_HUMAN_GENOMES ss3822398800 Jul 13, 2019 (153)
84 EVA ss3825423895 Apr 27, 2020 (154)
85 EVA ss3825965506 Apr 27, 2020 (154)
86 SGDP_PRJ ss3890256782 Apr 27, 2020 (154)
87 KRGDB ss3940640370 Apr 27, 2020 (154)
88 EVA ss3984450646 Apr 26, 2021 (155)
89 EVA ss3984758324 Apr 26, 2021 (155)
90 EVA ss3986853408 Apr 26, 2021 (155)
91 TOPMED ss5105107662 Apr 26, 2021 (155)
92 TOPMED ss5105107663 Apr 26, 2021 (155)
93 TOMMO_GENOMICS ss5232040516 Apr 26, 2021 (155)
94 EVA ss5236988673 Apr 26, 2021 (155)
95 EVA ss5237615142 Apr 26, 2021 (155)
96 1000Genomes NC_000022.10 - 19950263 Oct 12, 2018 (152)
97 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19950263 Oct 12, 2018 (152)
98 Genetic variation in the Estonian population NC_000022.10 - 19950263 Oct 12, 2018 (152)
99 ExAC

Submission ignored due to conflicting rows:
Row 5801072 (NC_000022.10:19950262:G:G 118747/120152, NC_000022.10:19950262:G:T 1405/120152)
Row 5801073 (NC_000022.10:19950262:G:G 120142/120152, NC_000022.10:19950262:G:A 10/120152)

- Oct 12, 2018 (152)
100 ExAC

Submission ignored due to conflicting rows:
Row 5801072 (NC_000022.10:19950262:G:G 118747/120152, NC_000022.10:19950262:G:T 1405/120152)
Row 5801073 (NC_000022.10:19950262:G:G 120142/120152, NC_000022.10:19950262:G:A 10/120152)

- Oct 12, 2018 (152)
101 FINRISK NC_000022.10 - 19950263 Apr 27, 2020 (154)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 566543615 (NC_000022.11:19962739:G:A 4/140266)
Row 566543616 (NC_000022.11:19962739:G:T 1116/140262)

- Apr 26, 2021 (155)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 566543615 (NC_000022.11:19962739:G:A 4/140266)
Row 566543616 (NC_000022.11:19962739:G:T 1116/140262)

- Apr 26, 2021 (155)
104 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14289383 (NC_000022.10:19950262:G:G 250644/250656, NC_000022.10:19950262:G:A 12/250656)
Row 14289384 (NC_000022.10:19950262:G:G 247188/250656, NC_000022.10:19950262:G:T 3468/250656)

- Jul 13, 2019 (153)
105 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14289383 (NC_000022.10:19950262:G:G 250644/250656, NC_000022.10:19950262:G:A 12/250656)
Row 14289384 (NC_000022.10:19950262:G:G 247188/250656, NC_000022.10:19950262:G:T 3468/250656)

- Jul 13, 2019 (153)
106 HapMap NC_000022.11 - 19962740 Apr 27, 2020 (154)
107 KOREAN population from KRGDB NC_000022.10 - 19950263 Apr 27, 2020 (154)
108 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 19950263 Apr 27, 2020 (154)
109 Northern Sweden NC_000022.10 - 19950263 Jul 13, 2019 (153)
110 CNV burdens in cranial meningiomas NC_000022.10 - 19950263 Apr 26, 2021 (155)
111 MxGDAR/Encodat-PGx NC_000022.10 - 19950263 Apr 26, 2021 (155)
112 PharmGKB Aggregated NC_000022.11 - 19962740 Apr 27, 2020 (154)
113 Qatari NC_000022.10 - 19950263 Apr 27, 2020 (154)
114 SGDP_PRJ NC_000022.10 - 19950263 Apr 27, 2020 (154)
115 Siberian NC_000022.10 - 19950263 Apr 27, 2020 (154)
116 8.3KJPN NC_000022.10 - 19950263 Apr 26, 2021 (155)
117 TopMed

Submission ignored due to conflicting rows:
Row 380216609 (NC_000022.11:19962739:G:A 8/264690)
Row 380216610 (NC_000022.11:19962739:G:T 1991/264690)

- Apr 26, 2021 (155)
118 TopMed

Submission ignored due to conflicting rows:
Row 380216609 (NC_000022.11:19962739:G:A 8/264690)
Row 380216610 (NC_000022.11:19962739:G:T 1991/264690)

- Apr 26, 2021 (155)
119 UK 10K study - Twins NC_000022.10 - 19950263 Oct 12, 2018 (152)
120 A Vietnamese Genetic Variation Database NC_000022.10 - 19950263 Jul 13, 2019 (153)
121 ALFA NC_000022.11 - 19962740 Apr 26, 2021 (155)
122 ClinVar RCV000019157.2 Oct 12, 2018 (152)
123 ClinVar RCV001028887.1 Apr 27, 2020 (154)
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)
rs17817484 Oct 07, 2004 (123)
rs60776956 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1694228859, ss2744959896 NC_000022.10:19950262:G:A NC_000022.11:19962739:G:A (self)
237443218, 11248268279, ss3374060870, ss5105107662 NC_000022.11:19962739:G:A NC_000022.11:19962739:G:A (self)
ss481228915, ss491819527, ss1713731244, ss3643334845 NC_000022.9:18330262:G:T NC_000022.11:19962739:G:T (self)
80217509, 44381998, 31357109, 122871, 47817764, 676231, 17108141, 307905, 3647, 20826309, 42273762, 11291519, 90009823, 44381998, 9792531, ss341087254, ss342536607, ss481252483, ss482238878, ss485409792, ss491188310, ss491568464, ss783150354, ss783439067, ss832409543, ss1067603852, ss1082570459, ss1366683078, ss1584126410, ss1639753929, ss1682747962, ss1694228858, ss1711560471, ss1752413966, ss1752413967, ss1917953432, ss1938784387, ss1946577606, ss1959965699, ss2158775165, ss2413283823, ss2633862764, ss2704518120, ss2710952864, ss2744959896, ss2750498414, ss2972986206, ss2985233268, ss2985850701, ss3019086359, ss3022171886, ss3633268860, ss3633984249, ss3634860939, ss3634860940, ss3635668887, ss3636556576, ss3637421079, ss3638374437, ss3640568240, ss3640568241, ss3644796321, ss3652633438, ss3654001332, ss3685618861, ss3743823276, ss3744500490, ss3745160770, ss3745160771, ss3759230909, ss3772656753, ss3772656754, ss3825423895, ss3825965506, ss3890256782, ss3940640370, ss3984450646, ss3984758324, ss3986853408, ss5232040516, ss5237615142 NC_000022.10:19950262:G:T NC_000022.11:19962739:G:T (self)
RCV000019157.2, RCV001028887.1, 2227937, 7567, 237443218, 11248268279, ss169702270, ss275514029, ss2246456941, ss3374060871, ss3725957485, ss3822398800, ss5105107663, ss5236988673 NC_000022.11:19962739:G:T NC_000022.11:19962739:G:T (self)
ss7891, ss3194615, ss4479991, ss6311515, ss6903718, ss12673755, ss22886945, ss24211194, ss66862089, ss69277075, ss74876661, ss84156111, ss160769687, ss173991783 NT_011519.10:3102412:G:T NC_000022.11:19962739:G: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 rs6267
PMID Title Author Year Journal
15645182 Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans. Lee SG et al. 2005 Human genetics
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
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
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
19881467 Association analysis of COMT polymorphisms with schizophrenia and smooth pursuit eye movement abnormality. Park BL et al. 2009 Journal of human genetics
21217836 No Association Between Functional Polymorphisms in COMT and MTHFR and Schizophrenia Risk in Korean Population. Kang HJ et al. 2010 Epidemiology and health
21342622 [Catechol-O-methyltransferase gene rs6267 polymorphism in children with attention deficit hyperactivity disorder]. Zhang YB et al. 2011 Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
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
23139742 Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes. Wang HS et al. 2012 PloS one
24234932 Association Between Catechol-O-Methyltransferase (COMT) Gene Polymorphisms, Parkinson's Disease, and Levodopa Efficacy. Yin B et al. 2013 Molecular diagnosis & therapy
24755993 Therapygenetics in mindfulness-based cognitive therapy: do genes have an impact on therapy-induced change in real-life positive affective experiences? Bakker JM et al. 2014 Translational psychiatry
24782743 Association of COMT and COMT-DRD2 interaction with creative potential. Zhang S et al. 2014 Frontiers in human neuroscience
25817274 Investigation of Recessive Effects in Schizophrenia Using Next-Generation Exome Sequence Data. Curtis D et al. 2015 Annals of human genetics
26724569 Catechol-O-methyltransferase gene variants may associate with negative symptom response and plasma concentrations of prolactin in schizophrenia after amisulpride treatment. Chen CY et al. 2016 Psychoneuroendocrinology
26988620 No associations between five polymorphisms in COMT gene and migraine. Takigawa H et al. 2017 Acta neurologica Scandinavica
28740224 Depression and Catechol-O-methyltransferase (COMT) genetic variants are associated with pain in Parkinson's disease. Lin CH et al. 2017 Scientific reports
29289372 Childhood Abuse Experiences and the COMT and MTHFR Genetic Variants Associated With Male Sexual Orientation in the Han Chinese Populations: A Case-Control Study. Qin JB et al. 2018 The journal of sexual medicine
29439855 Catechol-O-methyltransferase (COMT) genetic variants are associated with cognitive decline in patients with Parkinson's disease. Lin CH et al. 2018 Parkinsonism & related disorders
32664413 Genetic Markers for Later Remission in Response to Early Improvement of Antidepressants. Kang HJ et al. 2020 International journal of molecular sciences
32851260 The advances of genetics research on Hirschsprung's disease. Ke J et al. 2018 Pediatric investigation
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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