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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.

rs769224

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19964281 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.024719 (6996/283026, ALFA)
A=0.046201 (12229/264690, TOPMED)
A=0.030208 (7592/251326, GnomAD_exome) (+ 24 more)
A=0.044864 (6291/140224, GnomAD)
A=0.031374 (3796/120990, ExAC)
A=0.05664 (4457/78688, PAGE_STUDY)
A=0.03681 (617/16760, 8.3KJPN)
A=0.04452 (579/13006, GO-ESP)
A=0.0503 (252/5008, 1000G)
A=0.0254 (114/4480, Estonian)
A=0.0221 (85/3854, ALSPAC)
A=0.0232 (86/3708, TWINSUK)
A=0.0360 (118/3278, PRJNA289433)
A=0.0609 (178/2922, KOREAN)
A=0.0529 (100/1892, HapMap)
A=0.020 (20/998, GoNL)
A=0.059 (46/784, PRJEB37584)
A=0.065 (40/616, Vietnamese)
A=0.015 (9/600, NorthernSweden)
A=0.069 (41/596, PharmGKB)
A=0.013 (7/534, MGP)
A=0.046 (14/304, FINRISK)
A=0.014 (3/216, Qatari)
G=0.50 (28/56, SGDP_PRJ)
A=0.50 (28/56, SGDP_PRJ)
G=0.5 (2/4, Siberian)
A=0.5 (2/4, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
COMT : Synonymous Variant
MIR4761 : 500B Downstream Variant
Publications
7 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 283026 G=0.975281 A=0.024719
European Sub 247218 G=0.978481 A=0.021519
African Sub 10890 G=0.91010 A=0.08990
African Others Sub 368 G=0.848 A=0.152
African American Sub 10522 G=0.91228 A=0.08772
Asian Sub 3680 G=0.9505 A=0.0495
East Asian Sub 2988 G=0.9431 A=0.0569
Other Asian Sub 692 G=0.983 A=0.017
Latin American 1 Sub 1260 G=0.9611 A=0.0389
Latin American 2 Sub 5402 G=0.9778 A=0.0222
South Asian Sub 360 G=0.986 A=0.014
Other Sub 14216 G=0.97601 A=0.02399


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 283026 G=0.975281 A=0.024719
Allele Frequency Aggregator European Sub 247218 G=0.978481 A=0.021519
Allele Frequency Aggregator Other Sub 14216 G=0.97601 A=0.02399
Allele Frequency Aggregator African Sub 10890 G=0.91010 A=0.08990
Allele Frequency Aggregator Latin American 2 Sub 5402 G=0.9778 A=0.0222
Allele Frequency Aggregator Asian Sub 3680 G=0.9505 A=0.0495
Allele Frequency Aggregator Latin American 1 Sub 1260 G=0.9611 A=0.0389
Allele Frequency Aggregator South Asian Sub 360 G=0.986 A=0.014
TopMed Global Study-wide 264690 G=0.953799 A=0.046201
gnomAD - Exomes Global Study-wide 251326 G=0.969792 A=0.030208
gnomAD - Exomes European Sub 135286 G=0.978579 A=0.021421
gnomAD - Exomes Asian Sub 49010 G=0.96078 A=0.03922
gnomAD - Exomes American Sub 34580 G=0.97331 A=0.02669
gnomAD - Exomes African Sub 16238 G=0.90762 A=0.09238
gnomAD - Exomes Ashkenazi Jewish Sub 10078 G=0.97946 A=0.02054
gnomAD - Exomes Other Sub 6134 G=0.9769 A=0.0231
gnomAD - Genomes Global Study-wide 140224 G=0.955136 A=0.044864
gnomAD - Genomes European Sub 75944 G=0.97877 A=0.02123
gnomAD - Genomes African Sub 42016 G=0.90646 A=0.09354
gnomAD - Genomes American Sub 13666 G=0.97124 A=0.02876
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.9792 A=0.0208
gnomAD - Genomes East Asian Sub 3132 G=0.9304 A=0.0696
gnomAD - Genomes Other Sub 2146 G=0.9678 A=0.0322
ExAC Global Study-wide 120990 G=0.968626 A=0.031374
ExAC Europe Sub 73044 G=0.97851 A=0.02149
ExAC Asian Sub 25138 G=0.96356 A=0.03644
ExAC American Sub 11540 G=0.97218 A=0.02782
ExAC African Sub 10364 G=0.90641 A=0.09359
ExAC Other Sub 904 G=0.979 A=0.021
The PAGE Study Global Study-wide 78688 G=0.94336 A=0.05664
The PAGE Study AfricanAmerican Sub 32512 G=0.91203 A=0.08797
The PAGE Study Mexican Sub 10810 G=0.97049 A=0.02951
The PAGE Study Asian Sub 8316 G=0.9549 A=0.0451
The PAGE Study PuertoRican Sub 7918 G=0.9635 A=0.0365
The PAGE Study NativeHawaiian Sub 4528 G=0.9777 A=0.0223
The PAGE Study Cuban Sub 4228 G=0.9719 A=0.0281
The PAGE Study Dominican Sub 3828 G=0.9425 A=0.0575
The PAGE Study CentralAmerican Sub 2450 G=0.9735 A=0.0265
The PAGE Study SouthAmerican Sub 1982 G=0.9763 A=0.0237
The PAGE Study NativeAmerican Sub 1260 G=0.9651 A=0.0349
The PAGE Study SouthAsian Sub 856 G=0.979 A=0.021
8.3KJPN JAPANESE Study-wide 16760 G=0.96319 A=0.03681
GO Exome Sequencing Project Global Study-wide 13006 G=0.95548 A=0.04452
GO Exome Sequencing Project European American Sub 8600 G=0.9793 A=0.0207
GO Exome Sequencing Project African American Sub 4406 G=0.9090 A=0.0910
1000Genomes Global Study-wide 5008 G=0.9497 A=0.0503
1000Genomes African Sub 1322 G=0.8986 A=0.1014
1000Genomes East Asian Sub 1008 G=0.9365 A=0.0635
1000Genomes Europe Sub 1006 G=0.9811 A=0.0189
1000Genomes South Asian Sub 978 G=0.981 A=0.019
1000Genomes American Sub 694 G=0.977 A=0.023
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9746 A=0.0254
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9779 A=0.0221
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9768 A=0.0232
MxGDAR/Encodat-PGx Global Study-wide 3278 G=0.9640 A=0.0360
MxGDAR/Encodat-PGx MxGDAR Sub 3278 G=0.9640 A=0.0360
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9391 A=0.0609
HapMap Global Study-wide 1892 G=0.9471 A=0.0529
HapMap American Sub 770 G=0.957 A=0.043
HapMap African Sub 692 G=0.922 A=0.078
HapMap Asian Sub 254 G=0.953 A=0.047
HapMap Europe Sub 176 G=0.994 A=0.006
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.980 A=0.020
CNV burdens in cranial meningiomas Global Study-wide 784 G=0.941 A=0.059
CNV burdens in cranial meningiomas CRM Sub 784 G=0.941 A=0.059
A Vietnamese Genetic Variation Database Global Study-wide 616 G=0.935 A=0.065
Northern Sweden ACPOP Study-wide 600 G=0.985 A=0.015
PharmGKB Aggregated Global Study-wide 596 G=0.931 A=0.069
PharmGKB Aggregated PA150015517 Sub 356 G=0.935 A=0.065
PharmGKB Aggregated PA137870029 Sub 240 G=0.925 A=0.075
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.987 A=0.013
FINRISK Finnish from FINRISK project Study-wide 304 G=0.954 A=0.046
Qatari Global Study-wide 216 G=0.986 A=0.014
SGDP_PRJ Global Study-wide 56 G=0.50 A=0.50
Siberian Global Study-wide 4 G=0.5 A=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.19964281G>A
GRCh37.p13 chr 22 NC_000022.10:g.19951804G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.27542G>A
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 3 NM_001135162.2:c.597G>A P [CCG] > P [CCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001128634.1:p.Pro199= P (Pro) > P (Pro) Synonymous Variant
COMT transcript variant 2 NM_001135161.2:c.597G>A P [CCG] > P [CCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001128633.1:p.Pro199= P (Pro) > P (Pro) Synonymous Variant
COMT transcript variant 5 NM_001362828.2:c.597G>A P [CCG] > P [CCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_001349757.1:p.Pro199= P (Pro) > P (Pro) Synonymous Variant
COMT transcript variant 4 NM_007310.3:c.447G>A P [CCG] > P [CCA] Coding Sequence Variant
catechol O-methyltransferase isoform S-COMT NP_009294.1:p.Pro149= P (Pro) > P (Pro) Synonymous Variant
COMT transcript variant 1 NM_000754.4:c.597G>A P [CCG] > P [CCA] Coding Sequence Variant
catechol O-methyltransferase isoform MB-COMT NP_000745.1:p.Pro199= P (Pro) > P (Pro) Synonymous Variant
Gene: MIR4761, microRNA 4761 (plus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR4761 transcript NR_039918.1:n. N/A Downstream 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: A (allele ID: 817807 )
ClinVar Accession Disease Names Clinical Significance
RCV001028870.1 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
GRCh38.p13 chr 22 NC_000022.11:g.19964281= NC_000022.11:g.19964281G>A
GRCh37.p13 chr 22 NC_000022.10:g.19951804= NC_000022.10:g.19951804G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.27542= NG_011526.1:g.27542G>A
COMT transcript variant 1 NM_000754.4:c.597= NM_000754.4:c.597G>A
COMT transcript variant 1 NM_000754.3:c.597= NM_000754.3:c.597G>A
COMT transcript variant 4 NM_007310.3:c.447= NM_007310.3:c.447G>A
COMT transcript variant 4 NM_007310.2:c.447= NM_007310.2:c.447G>A
COMT transcript variant 5 NM_001362828.2:c.597= NM_001362828.2:c.597G>A
COMT transcript variant 5 NM_001362828.1:c.597= NM_001362828.1:c.597G>A
COMT transcript variant 2 NM_001135161.2:c.597= NM_001135161.2:c.597G>A
COMT transcript variant 2 NM_001135161.1:c.597= NM_001135161.1:c.597G>A
COMT transcript variant 3 NM_001135162.2:c.597= NM_001135162.2:c.597G>A
COMT transcript variant 3 NM_001135162.1:c.597= NM_001135162.1:c.597G>A
catechol O-methyltransferase isoform MB-COMT NP_000745.1:p.Pro199= NP_000745.1:p.Pro199=
catechol O-methyltransferase isoform S-COMT NP_009294.1:p.Pro149= NP_009294.1:p.Pro149=
catechol O-methyltransferase isoform MB-COMT NP_001349757.1:p.Pro199= NP_001349757.1:p.Pro199=
catechol O-methyltransferase isoform MB-COMT NP_001128633.1:p.Pro199= NP_001128633.1:p.Pro199=
catechol O-methyltransferase isoform MB-COMT NP_001128634.1:p.Pro199= NP_001128634.1:p.Pro199=
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#.

104 SubSNP, 25 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 UWGC ss869770 Oct 05, 2000 (86)
2 IMCJ-GDT ss22886938 Apr 05, 2004 (121)
3 PERLEGEN ss23789040 Sep 20, 2004 (123)
4 APPLERA_GI ss48429971 Mar 13, 2006 (126)
5 PHARMGKB_PPII ss69367708 May 18, 2007 (127)
6 ILLUMINA ss75050042 Dec 07, 2007 (129)
7 PHARMGKB_AB_DME ss84156105 Dec 16, 2007 (130)
8 SHGC ss99307580 Feb 06, 2009 (130)
9 KRIBB_YJKIM ss119367414 Dec 01, 2009 (131)
10 SEATTLESEQ ss159743880 Dec 01, 2009 (131)
11 ILLUMINA ss160904239 Dec 01, 2009 (131)
12 ILLUMINA ss174497977 Jul 04, 2010 (132)
13 1000GENOMES ss228618147 Jul 14, 2010 (132)
14 1000GENOMES ss244151663 Jul 15, 2010 (132)
15 GMI ss283587222 May 04, 2012 (137)
16 NHLBI-ESP ss342536626 May 09, 2011 (134)
17 ILLUMINA ss481644406 May 04, 2012 (137)
18 ILLUMINA ss481675015 May 04, 2012 (137)
19 ILLUMINA ss481853883 May 04, 2012 (137)
20 ILLUMINA ss482641645 Sep 08, 2015 (146)
21 ILLUMINA ss484289282 May 04, 2012 (137)
22 ILLUMINA ss485616955 May 04, 2012 (137)
23 1000GENOMES ss491188319 May 04, 2012 (137)
24 CLINSEQ_SNP ss491819537 May 04, 2012 (137)
25 ILLUMINA ss534414739 Sep 08, 2015 (146)
26 TISHKOFF ss566560790 Apr 25, 2013 (138)
27 SSMP ss662483748 Apr 25, 2013 (138)
28 ILLUMINA ss779312531 Sep 08, 2015 (146)
29 ILLUMINA ss781585651 Sep 08, 2015 (146)
30 ILLUMINA ss783254094 Sep 08, 2015 (146)
31 ILLUMINA ss832514908 Sep 08, 2015 (146)
32 ILLUMINA ss834779973 Sep 08, 2015 (146)
33 EVA-GONL ss995222800 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1067603860 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1082570468 Aug 21, 2014 (142)
36 1000GENOMES ss1366683133 Aug 21, 2014 (142)
37 EVA_FINRISK ss1584126416 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1639753955 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1682747988 Apr 01, 2015 (144)
40 EVA_EXAC ss1694229010 Apr 01, 2015 (144)
41 EVA_DECODE ss1699291903 Apr 01, 2015 (144)
42 EVA_MGP ss1711560482 Apr 01, 2015 (144)
43 EVA_SVP ss1713731248 Apr 01, 2015 (144)
44 ILLUMINA ss1752413981 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1938784400 Feb 12, 2016 (147)
46 ILLUMINA ss1946577648 Feb 12, 2016 (147)
47 ILLUMINA ss1959965715 Feb 12, 2016 (147)
48 GENOMED ss1969246878 Jul 19, 2016 (147)
49 JJLAB ss2030165215 Sep 14, 2016 (149)
50 USC_VALOUEV ss2158775173 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2246457051 Dec 20, 2016 (150)
52 TOPMED ss2413283938 Dec 20, 2016 (150)
53 ILLUMINA ss2633862779 Nov 08, 2017 (151)
54 ILLUMINA ss2633862780 Nov 08, 2017 (151)
55 ILLUMINA ss2633862781 Nov 08, 2017 (151)
56 GRF ss2704518126 Nov 08, 2017 (151)
57 ILLUMINA ss2710952872 Nov 08, 2017 (151)
58 GNOMAD ss2744960136 Nov 08, 2017 (151)
59 GNOMAD ss2750498482 Nov 08, 2017 (151)
60 GNOMAD ss2972986342 Nov 08, 2017 (151)
61 AFFY ss2985233276 Nov 08, 2017 (151)
62 AFFY ss2985850716 Nov 08, 2017 (151)
63 SWEGEN ss3019086376 Nov 08, 2017 (151)
64 ILLUMINA ss3022171899 Nov 08, 2017 (151)
65 CSHL ss3352776494 Nov 08, 2017 (151)
66 TOPMED ss3374061210 Nov 08, 2017 (151)
67 ILLUMINA ss3625799487 Oct 12, 2018 (152)
68 ILLUMINA ss3628506019 Oct 12, 2018 (152)
69 ILLUMINA ss3631815169 Oct 12, 2018 (152)
70 ILLUMINA ss3633268866 Oct 12, 2018 (152)
71 ILLUMINA ss3633984256 Oct 12, 2018 (152)
72 ILLUMINA ss3634860954 Oct 12, 2018 (152)
73 ILLUMINA ss3635668892 Oct 12, 2018 (152)
74 ILLUMINA ss3636556584 Oct 12, 2018 (152)
75 ILLUMINA ss3637421086 Oct 12, 2018 (152)
76 ILLUMINA ss3638374446 Oct 12, 2018 (152)
77 ILLUMINA ss3640568255 Oct 12, 2018 (152)
78 ILLUMINA ss3643334854 Oct 12, 2018 (152)
79 ILLUMINA ss3644796334 Oct 12, 2018 (152)
80 ILLUMINA ss3652633451 Oct 12, 2018 (152)
81 ILLUMINA ss3654001340 Oct 12, 2018 (152)
82 EGCUT_WGS ss3685618883 Jul 13, 2019 (153)
83 EVA_DECODE ss3707954962 Jul 13, 2019 (153)
84 ILLUMINA ss3725957495 Jul 13, 2019 (153)
85 ACPOP ss3743823284 Jul 13, 2019 (153)
86 ILLUMINA ss3744205026 Jul 13, 2019 (153)
87 ILLUMINA ss3745160785 Jul 13, 2019 (153)
88 EVA ss3759230933 Jul 13, 2019 (153)
89 PAGE_CC ss3772082277 Jul 13, 2019 (153)
90 ILLUMINA ss3772656768 Jul 13, 2019 (153)
91 KHV_HUMAN_GENOMES ss3822398813 Jul 13, 2019 (153)
92 EVA ss3825423929 Apr 27, 2020 (154)
93 EVA ss3825965515 Apr 27, 2020 (154)
94 SGDP_PRJ ss3890256808 Apr 27, 2020 (154)
95 KRGDB ss3940640401 Apr 27, 2020 (154)
96 FSA-LAB ss3984229796 Apr 26, 2021 (155)
97 EVA ss3984450655 Apr 26, 2021 (155)
98 EVA ss3984758330 Apr 26, 2021 (155)
99 EVA ss3986853420 Apr 26, 2021 (155)
100 EVA ss4017873657 Apr 26, 2021 (155)
101 TOPMED ss5105108161 Apr 26, 2021 (155)
102 TOMMO_GENOMICS ss5232040581 Apr 26, 2021 (155)
103 EVA ss5236988678 Apr 26, 2021 (155)
104 EVA ss5237615145 Apr 26, 2021 (155)
105 1000Genomes NC_000022.10 - 19951804 Oct 12, 2018 (152)
106 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19951804 Oct 12, 2018 (152)
107 Genetic variation in the Estonian population NC_000022.10 - 19951804 Oct 12, 2018 (152)
108 ExAC NC_000022.10 - 19951804 Oct 12, 2018 (152)
109 FINRISK NC_000022.10 - 19951804 Apr 27, 2020 (154)
110 gnomAD - Genomes NC_000022.11 - 19964281 Apr 26, 2021 (155)
111 gnomAD - Exomes NC_000022.10 - 19951804 Jul 13, 2019 (153)
112 GO Exome Sequencing Project NC_000022.10 - 19951804 Oct 12, 2018 (152)
113 Genome of the Netherlands Release 5 NC_000022.10 - 19951804 Apr 27, 2020 (154)
114 HapMap NC_000022.11 - 19964281 Apr 27, 2020 (154)
115 KOREAN population from KRGDB NC_000022.10 - 19951804 Apr 27, 2020 (154)
116 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 19951804 Apr 27, 2020 (154)
117 Northern Sweden NC_000022.10 - 19951804 Jul 13, 2019 (153)
118 The PAGE Study NC_000022.11 - 19964281 Jul 13, 2019 (153)
119 CNV burdens in cranial meningiomas NC_000022.10 - 19951804 Apr 26, 2021 (155)
120 MxGDAR/Encodat-PGx NC_000022.10 - 19951804 Apr 26, 2021 (155)
121 PharmGKB Aggregated NC_000022.11 - 19964281 Apr 27, 2020 (154)
122 Qatari NC_000022.10 - 19951804 Apr 27, 2020 (154)
123 SGDP_PRJ NC_000022.10 - 19951804 Apr 27, 2020 (154)
124 Siberian NC_000022.10 - 19951804 Apr 27, 2020 (154)
125 8.3KJPN NC_000022.10 - 19951804 Apr 26, 2021 (155)
126 TopMed NC_000022.11 - 19964281 Apr 26, 2021 (155)
127 UK 10K study - Twins NC_000022.10 - 19951804 Oct 12, 2018 (152)
128 A Vietnamese Genetic Variation Database NC_000022.10 - 19951804 Jul 13, 2019 (153)
129 ALFA NC_000022.11 - 19964281 Apr 26, 2021 (155)
130 ClinVar RCV001028870.1 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)
rs11544668 May 26, 2008 (130)
rs61503513 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss283587222, ss481644406, ss484289282, ss491819537, ss1699291903, ss1713731248, ss3643334854 NC_000022.9:18331803:G:A NC_000022.11:19964280:G:A (self)
80217563, 44382026, 31357131, 5801236, 122877, 14289622, 1880785, 19773909, 47817795, 676242, 17108149, 307911, 3656, 20826322, 42273788, 11291527, 90009888, 44382026, 9792538, ss228618147, ss244151663, ss342536626, ss481675015, ss481853883, ss482641645, ss485616955, ss491188319, ss534414739, ss566560790, ss662483748, ss779312531, ss781585651, ss783254094, ss832514908, ss834779973, ss995222800, ss1067603860, ss1082570468, ss1366683133, ss1584126416, ss1639753955, ss1682747988, ss1694229010, ss1711560482, ss1752413981, ss1938784400, ss1946577648, ss1959965715, ss1969246878, ss2030165215, ss2158775173, ss2413283938, ss2633862779, ss2633862780, ss2633862781, ss2704518126, ss2710952872, ss2744960136, ss2750498482, ss2972986342, ss2985233276, ss2985850716, ss3019086376, ss3022171899, ss3352776494, ss3625799487, ss3628506019, ss3631815169, ss3633268866, ss3633984256, ss3634860954, ss3635668892, ss3636556584, ss3637421086, ss3638374446, ss3640568255, ss3644796334, ss3652633451, ss3654001340, ss3685618883, ss3743823284, ss3744205026, ss3745160785, ss3759230933, ss3772656768, ss3825423929, ss3825965515, ss3890256808, ss3940640401, ss3984229796, ss3984450655, ss3984758330, ss3986853420, ss4017873657, ss5232040581, ss5237615145 NC_000022.10:19951803:G:A NC_000022.11:19964280:G:A (self)
RCV001028870.1, 566543987, 2227947, 1303746, 7574, 237443529, 380217108, 1687998887, ss2246457051, ss3374061210, ss3707954962, ss3725957495, ss3772082277, ss3822398813, ss5105108161, ss5236988678 NC_000022.11:19964280:G:A NC_000022.11:19964280:G:A (self)
ss869770, ss22886938, ss23789040, ss48429971, ss69367708, ss75050042, ss84156105, ss99307580, ss119367414, ss159743880, ss160904239, ss174497977 NT_011519.10:3103953:G:A NC_000022.11:19964280:G:A (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.

7 citations for rs769224
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
19365560 Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs. Nackley AG et al. 2009 PloS one
20877297 Catechol O-methyltransferase pharmacogenomics and selective serotonin reuptake inhibitor response. Ji Y et al. 2012 The pharmacogenomics journal
21680027 Influence and interaction of genetic polymorphisms in catecholamine neurotransmitter systems and early life stress on antidepressant drug response. Xu Z et al. 2011 Journal of affective disorders
24782743 Association of COMT and COMT-DRD2 interaction with creative potential. Zhang S et al. 2014 Frontiers in human neuroscience
24881125 From pharmacogenetics to pharmacogenomics: the way toward the personalization of antidepressant treatment. Fabbri C et al. 2014 Canadian journal of psychiatry. Revue canadienne de psychiatrie
33577997 Association study of Catechol-o-methyltransferase and Alpha-1-adrenergic receptor gene polymorphisms with multiple phenotypes of heroin use disorder. Deji C et al. 2021 Neuroscience letters
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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