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.

rs165599

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19969258 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.461691 (122205/264690, TOPMED)
G=0.335031 (76442/228164, ALFA)
G=0.442862 (62006/140012, GnomAD) (+ 17 more)
A=0.44979 (35392/78686, PAGE_STUDY)
G=0.44427 (7445/16758, 8.3KJPN)
A=0.4908 (2458/5008, 1000G)
G=0.3232 (1448/4480, Estonian)
G=0.3033 (1169/3854, ALSPAC)
G=0.3066 (1137/3708, TWINSUK)
A=0.4611 (1506/3266, PRJNA289433)
G=0.4713 (1381/2930, KOREAN)
G=0.4809 (881/1832, Korea1K)
G=0.298 (297/998, GoNL)
G=0.492 (360/732, PRJEB37584)
G=0.348 (209/600, NorthernSweden)
G=0.312 (134/430, SGDP_PRJ)
G=0.333 (72/216, Qatari)
A=0.495 (107/216, Vietnamese)
G=0.16 (8/50, Siberian)
G=0.20 (8/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ARVCF : Intron Variant
COMT : 3 Prime UTR Variant
Publications
109 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 228164 G=0.335031 A=0.664969
European Sub 199900 G=0.311651 A=0.688349
African Sub 7118 G=0.6899 A=0.3101
African Others Sub 262 G=0.786 A=0.214
African American Sub 6856 G=0.6863 A=0.3137
Asian Sub 772 G=0.499 A=0.501
East Asian Sub 626 G=0.487 A=0.513
Other Asian Sub 146 G=0.548 A=0.452
Latin American 1 Sub 828 G=0.414 A=0.586
Latin American 2 Sub 6752 G=0.4922 A=0.5078
South Asian Sub 5048 G=0.4556 A=0.5444
Other Sub 7746 G=0.3719 A=0.6281


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 G=0.461691 A=0.538309
Allele Frequency Aggregator Total Global 228164 G=0.335031 A=0.664969
Allele Frequency Aggregator European Sub 199900 G=0.311651 A=0.688349
Allele Frequency Aggregator Other Sub 7746 G=0.3719 A=0.6281
Allele Frequency Aggregator African Sub 7118 G=0.6899 A=0.3101
Allele Frequency Aggregator Latin American 2 Sub 6752 G=0.4922 A=0.5078
Allele Frequency Aggregator South Asian Sub 5048 G=0.4556 A=0.5444
Allele Frequency Aggregator Latin American 1 Sub 828 G=0.414 A=0.586
Allele Frequency Aggregator Asian Sub 772 G=0.499 A=0.501
gnomAD - Genomes Global Study-wide 140012 G=0.442862 A=0.557138
gnomAD - Genomes European Sub 75830 G=0.30815 A=0.69185
gnomAD - Genomes African Sub 41944 G=0.68174 A=0.31826
gnomAD - Genomes American Sub 13640 G=0.45301 A=0.54699
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.3919 A=0.6081
gnomAD - Genomes East Asian Sub 3124 G=0.5147 A=0.4853
gnomAD - Genomes Other Sub 2152 G=0.4438 A=0.5562
The PAGE Study Global Study-wide 78686 G=0.55021 A=0.44979
The PAGE Study AfricanAmerican Sub 32510 G=0.67259 A=0.32741
The PAGE Study Mexican Sub 10810 G=0.48233 A=0.51767
The PAGE Study Asian Sub 8316 G=0.4542 A=0.5458
The PAGE Study PuertoRican Sub 7918 G=0.4693 A=0.5307
The PAGE Study NativeHawaiian Sub 4530 G=0.3887 A=0.6113
The PAGE Study Cuban Sub 4230 G=0.4132 A=0.5868
The PAGE Study Dominican Sub 3828 G=0.5183 A=0.4817
The PAGE Study CentralAmerican Sub 2450 G=0.5253 A=0.4747
The PAGE Study SouthAmerican Sub 1980 G=0.5273 A=0.4727
The PAGE Study NativeAmerican Sub 1260 G=0.4278 A=0.5722
The PAGE Study SouthAsian Sub 854 G=0.419 A=0.581
8.3KJPN JAPANESE Study-wide 16758 G=0.44427 A=0.55573
1000Genomes Global Study-wide 5008 G=0.5092 A=0.4908
1000Genomes African Sub 1322 G=0.7474 A=0.2526
1000Genomes East Asian Sub 1008 G=0.4683 A=0.5317
1000Genomes Europe Sub 1006 G=0.3141 A=0.6859
1000Genomes South Asian Sub 978 G=0.438 A=0.562
1000Genomes American Sub 694 G=0.499 A=0.501
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3232 A=0.6768
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3033 A=0.6967
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3066 A=0.6934
MxGDAR/Encodat-PGx Global Study-wide 3266 G=0.5389 A=0.4611
MxGDAR/Encodat-PGx MxGDAR Sub 3266 G=0.5389 A=0.4611
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4713 A=0.5287, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.4809 A=0.5191
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.298 A=0.702
CNV burdens in cranial meningiomas Global Study-wide 732 G=0.492 A=0.508
CNV burdens in cranial meningiomas CRM Sub 732 G=0.492 A=0.508
Northern Sweden ACPOP Study-wide 600 G=0.348 A=0.652
SGDP_PRJ Global Study-wide 430 G=0.312 A=0.688
Qatari Global Study-wide 216 G=0.333 A=0.667
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.505 A=0.495
Siberian Global Study-wide 50 G=0.16 A=0.84
The Danish reference pan genome Danish Study-wide 40 G=0.20 A=0.80
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.19969258G>A
GRCh38.p13 chr 22 NC_000022.11:g.19969258G>C
GRCh37.p13 chr 22 NC_000022.10:g.19956781G>A
GRCh37.p13 chr 22 NC_000022.10:g.19956781G>C
ARVCF RefSeqGene NG_023326.1:g.52529C>T
ARVCF RefSeqGene NG_023326.1:g.52529C>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32519G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32519G>C
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 3 NM_001135162.2:c.*522= N/A 3 Prime UTR Variant
COMT transcript variant 2 NM_001135161.2:c.*522= N/A 3 Prime UTR Variant
COMT transcript variant 5 NM_001362828.2:c.*522= N/A 3 Prime UTR Variant
COMT transcript variant 4 NM_007310.3:c.*522= N/A 3 Prime UTR Variant
COMT transcript variant 1 NM_000754.4:c.*522= N/A 3 Prime UTR Variant
Gene: ARVCF, ARVCF delta catenin family member (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ARVCF transcript variant 1 NM_001670.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X2 XM_005261242.3:c.2764-204…

XM_005261242.3:c.2764-2049C>T

N/A Intron Variant
ARVCF transcript variant X1 XM_006724243.3:c.2782-204…

XM_006724243.3:c.2782-2049C>T

N/A Intron Variant
ARVCF transcript variant X8 XM_006724246.4:c.2536-204…

XM_006724246.4:c.2536-2049C>T

N/A Intron Variant
ARVCF transcript variant X3 XM_011530179.3:c.2749-204…

XM_011530179.3:c.2749-2049C>T

N/A Intron Variant
ARVCF transcript variant X17 XM_011530182.3:c.1348-204…

XM_011530182.3:c.1348-2049C>T

N/A Intron Variant
ARVCF transcript variant X9 XM_024452249.1:c.2536-204…

XM_024452249.1:c.2536-2049C>T

N/A Intron Variant
ARVCF transcript variant X5 XM_005261243.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X7 XM_005261244.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X6 XM_006724245.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X10 XM_006724247.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X11 XM_006724248.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X14 XM_006724249.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X15 XM_006724250.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X4 XM_011530180.1:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X16 XM_011530181.1:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X18 XM_011530183.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X12 XR_937863.2:n. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X13 XR_937864.1:n. N/A Genic 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: 817841 )
ClinVar Accession Disease Names Clinical Significance
RCV001028852.1 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 C
GRCh38.p13 chr 22 NC_000022.11:g.19969258= NC_000022.11:g.19969258G>A NC_000022.11:g.19969258G>C
GRCh37.p13 chr 22 NC_000022.10:g.19956781= NC_000022.10:g.19956781G>A NC_000022.10:g.19956781G>C
ARVCF RefSeqGene NG_023326.1:g.52529= NG_023326.1:g.52529C>T NG_023326.1:g.52529C>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32519= NG_011526.1:g.32519G>A NG_011526.1:g.32519G>C
COMT transcript variant 1 NM_000754.4:c.*522= NM_000754.4:c.*522G>A NM_000754.4:c.*522G>C
COMT transcript variant 1 NM_000754.3:c.*522= NM_000754.3:c.*522G>A NM_000754.3:c.*522G>C
COMT transcript variant 4 NM_007310.3:c.*522= NM_007310.3:c.*522G>A NM_007310.3:c.*522G>C
COMT transcript variant 4 NM_007310.2:c.*522= NM_007310.2:c.*522G>A NM_007310.2:c.*522G>C
COMT transcript variant 5 NM_001362828.2:c.*522= NM_001362828.2:c.*522G>A NM_001362828.2:c.*522G>C
COMT transcript variant 5 NM_001362828.1:c.*522= NM_001362828.1:c.*522G>A NM_001362828.1:c.*522G>C
COMT transcript variant 2 NM_001135161.2:c.*522= NM_001135161.2:c.*522G>A NM_001135161.2:c.*522G>C
COMT transcript variant 2 NM_001135161.1:c.*522= NM_001135161.1:c.*522G>A NM_001135161.1:c.*522G>C
COMT transcript variant 3 NM_001135162.2:c.*522= NM_001135162.2:c.*522G>A NM_001135162.2:c.*522G>C
COMT transcript variant 3 NM_001135162.1:c.*522= NM_001135162.1:c.*522G>A NM_001135162.1:c.*522G>C
ARVCF transcript variant X2 XM_005261242.1:c.2764-2049= XM_005261242.1:c.2764-2049C>T XM_005261242.1:c.2764-2049C>G
ARVCF transcript variant X2 XM_005261242.3:c.2764-2049= XM_005261242.3:c.2764-2049C>T XM_005261242.3:c.2764-2049C>G
ARVCF transcript variant X1 XM_006724243.3:c.2782-2049= XM_006724243.3:c.2782-2049C>T XM_006724243.3:c.2782-2049C>G
ARVCF transcript variant X8 XM_006724246.4:c.2536-2049= XM_006724246.4:c.2536-2049C>T XM_006724246.4:c.2536-2049C>G
ARVCF transcript variant X3 XM_011530179.3:c.2749-2049= XM_011530179.3:c.2749-2049C>T XM_011530179.3:c.2749-2049C>G
ARVCF transcript variant X17 XM_011530182.3:c.1348-2049= XM_011530182.3:c.1348-2049C>T XM_011530182.3:c.1348-2049C>G
ARVCF transcript variant X9 XM_024452249.1:c.2536-2049= XM_024452249.1:c.2536-2049C>T XM_024452249.1:c.2536-2049C>G
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

115 SubSNP, 20 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss232577 Jul 12, 2000 (79)
2 SC ss458658 Jul 12, 2000 (79)
3 SC_JCM ss590927 Jul 16, 2000 (80)
4 KWOK ss1058129 Oct 04, 2000 (86)
5 KWOK ss1750415 Oct 18, 2000 (87)
6 RIKENSNPRC ss6311522 Feb 20, 2003 (111)
7 SC_SNP ss13346919 Dec 05, 2003 (119)
8 CSHL-HAPMAP ss16931913 Feb 27, 2004 (120)
9 SSAHASNP ss21849246 Apr 05, 2004 (121)
10 KRIBB_YJKIM ss65825202 Nov 30, 2006 (127)
11 HGSV ss84729314 Dec 15, 2007 (130)
12 BCMHGSC_JDW ss91877567 Mar 24, 2008 (129)
13 HUMANGENOME_JCVI ss96092650 Feb 05, 2009 (130)
14 1000GENOMES ss112551524 Jan 25, 2009 (130)
15 1000GENOMES ss114036114 Jan 25, 2009 (130)
16 ILLUMINA-UK ss117362091 Feb 14, 2009 (130)
17 ENSEMBL ss138335210 Dec 01, 2009 (131)
18 ENSEMBL ss143572108 Dec 01, 2009 (131)
19 ILLUMINA ss153545530 Dec 01, 2009 (131)
20 GMI ss157034677 Dec 01, 2009 (131)
21 ILLUMINA ss159291002 Dec 01, 2009 (131)
22 ILLUMINA ss160381444 Dec 01, 2009 (131)
23 ILLUMINA ss172610986 Jul 04, 2010 (132)
24 1000GENOMES ss228618171 Jul 14, 2010 (132)
25 1000GENOMES ss238022321 Jul 15, 2010 (132)
26 1000GENOMES ss244151678 Jul 15, 2010 (132)
27 BL ss255842591 May 09, 2011 (134)
28 GMI ss283587239 May 04, 2012 (137)
29 GMI ss287550255 Apr 25, 2013 (138)
30 PJP ss292736332 May 09, 2011 (134)
31 ILLUMINA ss480060545 May 04, 2012 (137)
32 ILLUMINA ss480069248 May 04, 2012 (137)
33 ILLUMINA ss480743015 Sep 08, 2015 (146)
34 ILLUMINA ss484828188 May 04, 2012 (137)
35 ILLUMINA ss536904327 Sep 08, 2015 (146)
36 TISHKOFF ss566560819 Apr 25, 2013 (138)
37 SSMP ss662483780 Apr 25, 2013 (138)
38 ILLUMINA ss778815995 Sep 08, 2015 (146)
39 ILLUMINA ss782860661 Sep 08, 2015 (146)
40 ILLUMINA ss783825001 Sep 08, 2015 (146)
41 ILLUMINA ss832114676 Sep 08, 2015 (146)
42 ILLUMINA ss832803113 Jul 13, 2019 (153)
43 ILLUMINA ss834276300 Sep 08, 2015 (146)
44 EVA-GONL ss995222852 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1082570495 Aug 21, 2014 (142)
46 1000GENOMES ss1366683306 Aug 21, 2014 (142)
47 DDI ss1429219800 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1579704288 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1639754041 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1682748074 Apr 01, 2015 (144)
51 EVA_DECODE ss1699291957 Apr 01, 2015 (144)
52 ILLUMINA ss1752413990 Sep 08, 2015 (146)
53 HAMMER_LAB ss1809734006 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1938784440 Feb 12, 2016 (147)
55 ILLUMINA ss1946577668 Feb 12, 2016 (147)
56 ILLUMINA ss1959965734 Feb 12, 2016 (147)
57 GENOMED ss1969246885 Jul 19, 2016 (147)
58 JJLAB ss2030165243 Sep 14, 2016 (149)
59 USC_VALOUEV ss2158775197 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2246457434 Dec 20, 2016 (150)
61 TOPMED ss2413284325 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2629580771 Nov 08, 2017 (151)
63 ILLUMINA ss2633862798 Nov 08, 2017 (151)
64 GRF ss2704518149 Nov 08, 2017 (151)
65 ILLUMINA ss2710952880 Nov 08, 2017 (151)
66 GNOMAD ss2972986818 Nov 08, 2017 (151)
67 AFFY ss2985850741 Nov 08, 2017 (151)
68 SWEGEN ss3019086443 Nov 08, 2017 (151)
69 ILLUMINA ss3022171922 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3028920337 Nov 08, 2017 (151)
71 CSHL ss3352776515 Nov 08, 2017 (151)
72 TOPMED ss3374062317 Nov 08, 2017 (151)
73 ILLUMINA ss3625799493 Oct 12, 2018 (152)
74 ILLUMINA ss3628506040 Oct 12, 2018 (152)
75 ILLUMINA ss3631815182 Oct 12, 2018 (152)
76 ILLUMINA ss3633268873 Oct 12, 2018 (152)
77 ILLUMINA ss3633984264 Oct 12, 2018 (152)
78 ILLUMINA ss3634860963 Oct 12, 2018 (152)
79 ILLUMINA ss3635668900 Oct 12, 2018 (152)
80 ILLUMINA ss3636556596 Oct 12, 2018 (152)
81 ILLUMINA ss3637421094 Oct 12, 2018 (152)
82 ILLUMINA ss3638374456 Oct 12, 2018 (152)
83 ILLUMINA ss3640568264 Oct 12, 2018 (152)
84 ILLUMINA ss3644796340 Oct 12, 2018 (152)
85 OMUKHERJEE_ADBS ss3646561248 Oct 12, 2018 (152)
86 URBANLAB ss3651151892 Oct 12, 2018 (152)
87 ILLUMINA ss3652633475 Oct 12, 2018 (152)
88 EGCUT_WGS ss3685618964 Jul 13, 2019 (153)
89 EVA_DECODE ss3707955054 Jul 13, 2019 (153)
90 ILLUMINA ss3725957514 Jul 13, 2019 (153)
91 ACPOP ss3743823318 Jul 13, 2019 (153)
92 ILLUMINA ss3744205031 Jul 13, 2019 (153)
93 ILLUMINA ss3745160794 Jul 13, 2019 (153)
94 EVA ss3759230984 Jul 13, 2019 (153)
95 PAGE_CC ss3772082294 Jul 13, 2019 (153)
96 ILLUMINA ss3772656777 Jul 13, 2019 (153)
97 PACBIO ss3788793375 Jul 13, 2019 (153)
98 PACBIO ss3793664465 Jul 13, 2019 (153)
99 PACBIO ss3798550790 Jul 13, 2019 (153)
100 KHV_HUMAN_GENOMES ss3822398869 Jul 13, 2019 (153)
101 EVA ss3825965526 Apr 27, 2020 (154)
102 EVA ss3835927822 Apr 27, 2020 (154)
103 EVA ss3841592416 Apr 27, 2020 (154)
104 EVA ss3847107076 Apr 27, 2020 (154)
105 SGDP_PRJ ss3890256893 Apr 27, 2020 (154)
106 KRGDB ss3940640496 Apr 27, 2020 (154)
107 KOGIC ss3983389769 Apr 27, 2020 (154)
108 FSA-LAB ss3984229806 Apr 26, 2021 (155)
109 EVA ss3984450658 Apr 26, 2021 (155)
110 EVA ss3984758337 Apr 26, 2021 (155)
111 EVA ss3986086724 Apr 26, 2021 (155)
112 EVA ss4017873664 Apr 26, 2021 (155)
113 TOPMED ss5105109707 Apr 26, 2021 (155)
114 TOMMO_GENOMICS ss5232040772 Apr 26, 2021 (155)
115 EVA ss5237615152 Apr 26, 2021 (155)
116 1000Genomes NC_000022.10 - 19956781 Oct 12, 2018 (152)
117 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19956781 Oct 12, 2018 (152)
118 Genetic variation in the Estonian population NC_000022.10 - 19956781 Oct 12, 2018 (152)
119 The Danish reference pan genome NC_000022.10 - 19956781 Apr 27, 2020 (154)
120 gnomAD - Genomes NC_000022.11 - 19969258 Apr 26, 2021 (155)
121 Genome of the Netherlands Release 5 NC_000022.10 - 19956781 Apr 27, 2020 (154)
122 KOREAN population from KRGDB NC_000022.10 - 19956781 Apr 27, 2020 (154)
123 Korean Genome Project NC_000022.11 - 19969258 Apr 27, 2020 (154)
124 Northern Sweden NC_000022.10 - 19956781 Jul 13, 2019 (153)
125 The PAGE Study NC_000022.11 - 19969258 Jul 13, 2019 (153)
126 CNV burdens in cranial meningiomas NC_000022.10 - 19956781 Apr 26, 2021 (155)
127 MxGDAR/Encodat-PGx NC_000022.10 - 19956781 Apr 26, 2021 (155)
128 Qatari NC_000022.10 - 19956781 Apr 27, 2020 (154)
129 SGDP_PRJ NC_000022.10 - 19956781 Apr 27, 2020 (154)
130 Siberian NC_000022.10 - 19956781 Apr 27, 2020 (154)
131 8.3KJPN NC_000022.10 - 19956781 Apr 26, 2021 (155)
132 TopMed NC_000022.11 - 19969258 Apr 26, 2021 (155)
133 UK 10K study - Twins NC_000022.10 - 19956781 Oct 12, 2018 (152)
134 A Vietnamese Genetic Variation Database NC_000022.10 - 19956781 Jul 13, 2019 (153)
135 ALFA NC_000022.11 - 19969258 Apr 26, 2021 (155)
136 ClinVar RCV001028852.1 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)
rs58966983 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84729314 NC_000022.8:18331334:G:A NC_000022.11:19969257:G:A (self)
ss91877567, ss112551524, ss114036114, ss117362091, ss255842591, ss283587239, ss287550255, ss292736332, ss480060545, ss1699291957 NC_000022.9:18336780:G:A NC_000022.11:19969257:G:A (self)
80217742, 44382116, 31357212, 5869227, 19773955, 47817890, 17108183, 307918, 3659, 20826362, 42273873, 11291551, 90010079, 44382116, 9792559, ss228618171, ss238022321, ss244151678, ss480069248, ss480743015, ss484828188, ss536904327, ss566560819, ss662483780, ss778815995, ss782860661, ss783825001, ss832114676, ss832803113, ss834276300, ss995222852, ss1082570495, ss1366683306, ss1429219800, ss1579704288, ss1639754041, ss1682748074, ss1752413990, ss1809734006, ss1938784440, ss1946577668, ss1959965734, ss1969246885, ss2030165243, ss2158775197, ss2413284325, ss2629580771, ss2633862798, ss2704518149, ss2710952880, ss2972986818, ss2985850741, ss3019086443, ss3022171922, ss3352776515, ss3625799493, ss3628506040, ss3631815182, ss3633268873, ss3633984264, ss3634860963, ss3635668900, ss3636556596, ss3637421094, ss3638374456, ss3640568264, ss3644796340, ss3646561248, ss3652633475, ss3685618964, ss3743823318, ss3744205031, ss3745160794, ss3759230984, ss3772656777, ss3788793375, ss3793664465, ss3798550790, ss3825965526, ss3835927822, ss3841592416, ss3890256893, ss3940640496, ss3984229806, ss3984450658, ss3984758337, ss3986086724, ss4017873664, ss5232040772, ss5237615152 NC_000022.10:19956780:G:A NC_000022.11:19969257:G:A (self)
RCV001028852.1, 566545212, 39767770, 1303763, 237444495, 380218654, 9739996050, ss2246457434, ss3028920337, ss3374062317, ss3651151892, ss3707955054, ss3725957514, ss3772082294, ss3822398869, ss3847107076, ss3983389769, ss5105109707 NC_000022.11:19969257:G:A NC_000022.11:19969257:G:A (self)
ss232577, ss458658, ss590927, ss1058129, ss1750415, ss6311522, ss13346919, ss16931913, ss21849246, ss65825202, ss96092650, ss138335210, ss143572108, ss153545530, ss157034677, ss159291002, ss160381444, ss172610986 NT_011519.10:3108930:G:A NC_000022.11:19969257:G:A (self)
47817890, ss3940640496 NC_000022.10:19956780:G:C NC_000022.11:19969257:G:C (self)
Help

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

109 citations for rs165599
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
15570503 [No evidence for gender-specific sharing of COMT alleles in schizophrenia]. Sand P et al. 2004 Psychiatrische Praxis
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
15962707 The differential clinical and neurocognitive profiles of COMT SNP rs165599 genotypes in schizophrenia. Chan RC et al. 2005 Journal of the International Neuropsychological Society
16027741 Catechol-O-methyltransferase haplotypes are associated with psychosis in Alzheimer disease. Sweet RA et al. 2005 Molecular psychiatry
16232322 COMT genetic variation confers risk for psychotic and affective disorders: a case control study. Funke B et al. 2005 Behavioral and brain functions
16380905 Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Fallin MD et al. 2005 American journal of human genetics
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
16786032 Impact of complex genetic variation in COMT on human brain function. Meyer-Lindenberg A et al. 2006 Molecular psychiatry
16816420 Nonlinear tests for genomewide association studies. Zhao J et al. 2006 Genetics
16876132 Catechol-O-methyltransferase (COMT) gene variants predict response to bupropion therapy for tobacco dependence. Berrettini WH et al. 2007 Biological psychiatry
17006672 Evidence for statistical epistasis between catechol-O-methyltransferase (COMT) and polymorphisms in RGS4, G72 (DAOA), GRM3, and DISC1: influence on risk of schizophrenia. Nicodemus KK et al. 2007 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
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
17547583 COMT genotype increases risk for bipolar I disorder and influences neurocognitive performance. Burdick KE et al. 2007 Bipolar disorders
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
17949513 Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS. Michaelovsky E et al. 2008 The international journal of neuropsychopharmacology
17961261 Catechol-O-methyltransferase gene haplotypes in Mexican and Spanish patients with fibromyalgia. Vargas-Alarcón G et al. 2007 Arthritis research & therapy
18021915 Genetics and smoking cessation improving outcomes in smokers at risk. Lerman CE et al. 2007 American journal of preventive medicine
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
18466879 Association of a nonsynonymous variant of DAOA with visuospatial ability in a bipolar family sample. Soronen P 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
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
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
19095219 Variation in catechol-O-methyltransferase is associated with duloxetine response in a clinical trial for major depressive disorder. Perlis RH et al. 2009 Biological psychiatry
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
19451915 Candidate-gene association analysis of response to risperidone in African-American and white patients with schizophrenia. Fijal BA et al. 2009 The pharmacogenomics journal
19605537 Effects of catechol-O-methyltransferase on normal variation in the cognitive function of children. Barnett JH et al. 2009 The American journal of psychiatry
19721400 Association between COMT gene and Chinese male schizophrenic patients with violent behavior. Gu Y et al. 2009 Medical science monitor
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
20080926 The influence of 5-HTT and COMT genotypes on verbal fluency in ecstasy users. Fagundo AB et al. 2010 Journal of psychopharmacology (Oxford, England)
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
20586531 The catechol-O-methyl-transferase gene in tardive dyskinesia. Zai CC et al. 2010 The world journal of biological psychiatry
20627703 The association of single nucleotide polymorphisms in the catechol-O-methyltransferase gene and pain scores in female patients with major depressive disorder. Fijal B et al. 2010 The journal of pain
20667552 Catechol-o-methyltransferase gene modulation on suicidal behavior and personality traits: review, meta-analysis and association study. Calati R et al. 2011 Journal of psychiatric research
20877297 Catechol O-methyltransferase pharmacogenomics and selective serotonin reuptake inhibitor response. Ji Y et al. 2012 The pharmacogenomics journal
21172166 Pharmacogenetics of antidepressant response. Porcelli S et al. 2011 Journal of psychiatry & neuroscience
21217836 No Association Between Functional Polymorphisms in COMT and MTHFR and Schizophrenia Risk in Korean Population. Kang HJ et al. 2010 Epidemiology and health
21225419 Gene-environment interactions: early life stress and risk for depressive and anxiety disorders. Nugent NR et al. 2011 Psychopharmacology
21319490 Imaging genetics of schizophrenia. Meyer-Lindenberg A et al. 2010 Dialogues in clinical neuroscience
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
21595525 Sensory gating deficit is associated with catechol-O-methyltransferase polymorphisms in bipolar disorder. Ancín I et al. 2011 The world journal of biological psychiatry
21609749 Role of functional dopaminergic gene polymorphisms in the etiology of idiopathic intellectual disability. Bhowmik AD et al. 2011 Progress in neuro-psychopharmacology & biological psychiatry
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
21788083 Association of catechol-O-methyltransferase variants with duloxetine response in major depressive disorder. Houston JP et al. 2011 Psychiatry research
21934638 A COMT gene haplotype associated with methamphetamine abuse. Jugurnauth SK et al. 2011 Pharmacogenetics and genomics
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
22103610 Biomarkers to optimize the treatment of nicotine dependence. Schnoll RA et al. 2011 Biomarkers in medicine
22348792 A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia. Vargas-Alarcon G et al. 2012 BMC musculoskeletal disorders
22713126 COMT polymorphisms as predictors of cognitive dysfunction during manic and mixed episodes in bipolar I disorder. Soeiro-de-Souza MG et al. 2012 Bipolar disorders
23178897 The catechol-O-methyltransferase gene (COMT) and cognitive function from childhood through adolescence. Gaysina D et al. 2013 Biological psychology
23213652 Abstracts of the American College of Neuropsychopharmacology (ACNP) 51st Annual Meeting. December 2-6, 2012. Hollywood, Florida, USA. 2012 Neuropsychopharmacology
23332465 Polymorphisms in microRNA target sites influence susceptibility to schizophrenia by altering the binding of miRNAs to their targets. Gong Y et al. 2013 European neuropsychopharmacology
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
23992923 Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome. Gothelf D et al. 2014 Biological psychiatry
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
24955500 Perceived stress during pregnancy and the catechol-O-methyltransferase (COMT) rs165599 polymorphism impacts on childhood IQ. Lamb YN et al. 2014 Cognition
25045629 Is catechol-o-methyltransferase gene polymorphism a risk factor in the development of premenstrual syndrome? Deveci EO et al. 2014 Clinical and experimental reproductive medicine
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
25320962 COMT haplotypes modulate associations of antenatal maternal anxiety and neonatal cortical morphology. Qiu A et al. 2015 The American journal of psychiatry
25744938 A potential interaction between COMT and MTHFR genetic variants in Han Chinese patients with bipolar II disorder. Wang LJ et al. 2015 Scientific reports
25819021 A review of pharmacogenetic studies of substance-related disorders. Jones JD et al. 2015 Drug and alcohol dependence
26073434 A novel association between COMT and BDNF gene polymorphisms and likelihood of symptomatic dysphagia in older people. Nimmons D et al. 2015 Neurogastroenterology and motility
26849490 Association between catechol-O-methyl transferase gene polymorphisms and fibromyalgia in a Korean population: A case-control study. Park DJ et al. 2016 European journal of pain (London, England)
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
27039372 Interaction between COMT rs5993883 and second generation antipsychotics is linked to decreases in verbal cognition and cognitive control in bipolar disorder. Flowers SA et al. 2016 BMC psychology
27166759 Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions. Yang J et al. 2016 Molecular psychiatry
27521242 TPH-2 Polymorphisms Interact with Early Life Stress to Influence Response to Treatment with Antidepressant Drugs. Xu Z et al. 2016 The international journal of neuropsychopharmacology
27743374 Associations between genetic risk, functional brain network organization and neuroticism. Servaas MN et al. 2017 Brain imaging and behavior
27895608 Genetic Consideration of Schizotypal Traits: A Review. Walter EE et al. 2016 Frontiers in psychology
28041918 Prediction of functional outcome in young patients with a recent-onset psychiatric disorder: Beyond the traditional diagnostic classification system. Minichino A et al. 2017 Schizophrenia research
28085950 Impact of DRD2/ANKK1 and COMT Polymorphisms on Attention and Cognitive Functions in Schizophrenia. Nkam I et al. 2017 PloS one
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
28472995 Interaction between cytochrome P450 2A6 and Catechol-O-Methyltransferase genes and their association with smoking risk in young men. Ou WC et al. 2017 Behavioral and brain functions
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
29255361 Potential link between genetic polymorphisms of <i>catechol-O-methyltransferase</i> and dopamine receptors and treatment efficacy of risperidone on schizophrenia. Han J et al. 2017 Neuropsychiatric disease and treatment
29559808 Association of genetic variation in <i>COMT</i> gene with pain related to sickle cell disease in patients from the walk-PHaSST study. Zhang Y et al. 2018 Journal of pain research
29634613 Association between COMT gene polymorphisms, clinical symptoms, and cognitive functions in Han Chinese patients with schizophrenia. Sun Z et al. 2018 Psychiatric genetics
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30165727 Association between COMT gene rs165599 SNP and schizophrenia: A meta-analysis of case-control studies. Gozukara Bag HG et al. 2018 Molecular genetics & genomic medicine
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
30719257 Genetic Variations of <i>DAOA</i> (rs947267 and rs3918342) and <i>COMT</i> Genes (rs165599 and rs4680) in Schizophrenia and Bipolar I Disorder. Ahmadi L et al. 2018 Basic and clinical neuroscience
31661578 Effects of genotype on TENS effectiveness in controlling knee pain in persons with mild to moderate osteoarthritis. Govil M et al. 2020 European journal of pain (London, England)
32059146 Sex hormones and genetic variants in hormone metabolic pathways associated with the risk of colorectal cancer. Li S et al. 2020 Environment international
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
33588721 Risk Genes in Schizophrenia and Their Importance in Choosing the Appropriate Antipsychotic Treatment. Werner FM et al. 2021 Current pharmaceutical design
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