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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.

rs2239393

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19962905 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.389875 (103196/264690, TOPMED)
G=0.402659 (92568/229892, ALFA)
G=0.390459 (54644/139948, GnomAD) (+ 20 more)
G=0.36306 (28528/78576, PAGE_STUDY)
G=0.26575 (4454/16760, 8.3KJPN)
G=0.3664 (1835/5008, 1000G)
G=0.3438 (1540/4480, Estonian)
G=0.4058 (1564/3854, ALSPAC)
G=0.4229 (1568/3708, TWINSUK)
G=0.1925 (616/3200, PRJNA289433)
G=0.3336 (974/2920, KOREAN)
G=0.3394 (706/2080, HGDP_Stanford)
G=0.3231 (592/1832, Korea1K)
G=0.414 (413/998, GoNL)
G=0.374 (278/744, PRJEB37584)
G=0.367 (220/600, NorthernSweden)
G=0.075 (40/534, MGP)
A=0.366 (109/298, SGDP_PRJ)
G=0.361 (78/216, Qatari)
G=0.362 (76/210, Vietnamese)
G=0.32 (24/74, Ancient Sardinia)
G=0.28 (11/40, GENOME_DK)
A=0.33 (12/36, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
COMT : Intron Variant
MIR4761 : 2KB Upstream Variant
Publications
12 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 229892 A=0.597341 G=0.402659
European Sub 201570 A=0.590038 G=0.409962
African Sub 7124 A=0.5922 G=0.4078
African Others Sub 266 A=0.571 G=0.429
African American Sub 6858 A=0.5930 G=0.4070
Asian Sub 778 A=0.699 G=0.301
East Asian Sub 632 A=0.703 G=0.297
Other Asian Sub 146 A=0.685 G=0.315
Latin American 1 Sub 840 A=0.592 G=0.408
Latin American 2 Sub 6830 A=0.7479 G=0.2521
South Asian Sub 5046 A=0.6506 G=0.3494
Other Sub 7704 A=0.6151 G=0.3849


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.610125 G=0.389875
Allele Frequency Aggregator Total Global 229892 A=0.597341 G=0.402659
Allele Frequency Aggregator European Sub 201570 A=0.590038 G=0.409962
Allele Frequency Aggregator Other Sub 7704 A=0.6151 G=0.3849
Allele Frequency Aggregator African Sub 7124 A=0.5922 G=0.4078
Allele Frequency Aggregator Latin American 2 Sub 6830 A=0.7479 G=0.2521
Allele Frequency Aggregator South Asian Sub 5046 A=0.6506 G=0.3494
Allele Frequency Aggregator Latin American 1 Sub 840 A=0.592 G=0.408
Allele Frequency Aggregator Asian Sub 778 A=0.699 G=0.301
gnomAD - Genomes Global Study-wide 139948 A=0.609541 G=0.390459
gnomAD - Genomes European Sub 75800 A=0.61338 G=0.38662
gnomAD - Genomes African Sub 41910 A=0.58645 G=0.41355
gnomAD - Genomes American Sub 13652 A=0.66554 G=0.33446
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.5193 G=0.4807
gnomAD - Genomes East Asian Sub 3118 A=0.6783 G=0.3217
gnomAD - Genomes Other Sub 2150 A=0.6084 G=0.3916
The PAGE Study Global Study-wide 78576 A=0.63694 G=0.36306
The PAGE Study AfricanAmerican Sub 32442 A=0.59472 G=0.40528
The PAGE Study Mexican Sub 10804 A=0.73871 G=0.26129
The PAGE Study Asian Sub 8300 A=0.7190 G=0.2810
The PAGE Study PuertoRican Sub 7914 A=0.6054 G=0.3946
The PAGE Study NativeHawaiian Sub 4528 A=0.5923 G=0.4077
The PAGE Study Cuban Sub 4224 A=0.5656 G=0.4344
The PAGE Study Dominican Sub 3826 A=0.5889 G=0.4111
The PAGE Study CentralAmerican Sub 2446 A=0.7506 G=0.2494
The PAGE Study SouthAmerican Sub 1978 A=0.7361 G=0.2639
The PAGE Study NativeAmerican Sub 1258 A=0.6463 G=0.3537
The PAGE Study SouthAsian Sub 856 A=0.683 G=0.317
8.3KJPN JAPANESE Study-wide 16760 A=0.73425 G=0.26575
1000Genomes Global Study-wide 5008 A=0.6336 G=0.3664
1000Genomes African Sub 1322 A=0.5930 G=0.4070
1000Genomes East Asian Sub 1008 A=0.6587 G=0.3413
1000Genomes Europe Sub 1006 A=0.5885 G=0.4115
1000Genomes South Asian Sub 978 A=0.674 G=0.326
1000Genomes American Sub 694 A=0.683 G=0.317
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6562 G=0.3438
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5942 G=0.4058
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5771 G=0.4229
MxGDAR/Encodat-PGx Global Study-wide 3200 A=0.8075 G=0.1925
MxGDAR/Encodat-PGx MxGDAR Sub 3200 A=0.8075 G=0.1925
KOREAN population from KRGDB KOREAN Study-wide 2920 A=0.6664 G=0.3336
HGDP-CEPH-db Supplement 1 Global Study-wide 2080 A=0.6606 G=0.3394
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 A=0.665 G=0.335
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.623 G=0.377
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.611 G=0.389
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.597 G=0.403
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.669 G=0.331
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.903 G=0.097
HGDP-CEPH-db Supplement 1 Oceania Sub 70 A=0.61 G=0.39
Korean Genome Project KOREAN Study-wide 1832 A=0.6769 G=0.3231
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.586 G=0.414
CNV burdens in cranial meningiomas Global Study-wide 744 A=0.626 G=0.374
CNV burdens in cranial meningiomas CRM Sub 744 A=0.626 G=0.374
Northern Sweden ACPOP Study-wide 600 A=0.633 G=0.367
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.925 G=0.075
SGDP_PRJ Global Study-wide 298 A=0.366 G=0.634
Qatari Global Study-wide 216 A=0.639 G=0.361
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.638 G=0.362
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 74 A=0.68 G=0.32
The Danish reference pan genome Danish Study-wide 40 A=0.72 G=0.28
Siberian Global Study-wide 36 A=0.33 G=0.67
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.19962905A>G
GRCh37.p13 chr 22 NC_000022.10:g.19950428A>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26166A>G
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 1 NM_000754.4:c.289+90A>G N/A Intron Variant
COMT transcript variant 2 NM_001135161.2:c.289+90A>G N/A Intron Variant
COMT transcript variant 3 NM_001135162.2:c.289+90A>G N/A Intron Variant
COMT transcript variant 5 NM_001362828.2:c.289+90A>G N/A Intron Variant
COMT transcript variant 4 NM_007310.3:c.139+90A>G N/A Intron 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: G (allele ID: 817787 )
ClinVar Accession Disease Names Clinical Significance
RCV001029702.1 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 A= G
GRCh38.p13 chr 22 NC_000022.11:g.19962905= NC_000022.11:g.19962905A>G
GRCh37.p13 chr 22 NC_000022.10:g.19950428= NC_000022.10:g.19950428A>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26166= NG_011526.1:g.26166A>G
COMT transcript variant 1 NM_000754.3:c.289+90= NM_000754.3:c.289+90A>G
COMT transcript variant 1 NM_000754.4:c.289+90= NM_000754.4:c.289+90A>G
COMT transcript variant 2 NM_001135161.1:c.289+90= NM_001135161.1:c.289+90A>G
COMT transcript variant 2 NM_001135161.2:c.289+90= NM_001135161.2:c.289+90A>G
COMT transcript variant 3 NM_001135162.1:c.289+90= NM_001135162.1:c.289+90A>G
COMT transcript variant 3 NM_001135162.2:c.289+90= NM_001135162.2:c.289+90A>G
COMT transcript variant 5 NM_001362828.2:c.289+90= NM_001362828.2:c.289+90A>G
COMT transcript variant 4 NM_007310.2:c.139+90= NM_007310.2:c.139+90A>G
COMT transcript variant 4 NM_007310.3:c.139+90= NM_007310.3:c.139+90A>G
COMT transcript variant X1 XM_005261229.1:c.289+90= XM_005261229.1:c.289+90A>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#.

131 SubSNP, 23 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3194616 Aug 15, 2001 (98)
2 RIKENSNPRC ss6311357 Feb 20, 2003 (111)
3 HG_BONN_CNS_SNPS ss12586773 Aug 26, 2003 (117)
4 EGP_SNPS ss12673757 Dec 05, 2003 (119)
5 CSHL-HAPMAP ss16921271 Feb 27, 2004 (120)
6 ABI ss44329838 Mar 13, 2006 (126)
7 SNP500CANCER ss48293409 Mar 13, 2006 (126)
8 ILLUMINA ss66580683 Dec 03, 2006 (127)
9 EGP_SNPS ss66862090 Dec 03, 2006 (127)
10 ILLUMINA ss67236521 Dec 03, 2006 (127)
11 ILLUMINA ss67632736 Dec 03, 2006 (127)
12 ILLUMINA ss70714849 May 24, 2008 (130)
13 ILLUMINA ss71282647 May 16, 2007 (127)
14 ILLUMINA ss74954415 Dec 06, 2007 (129)
15 HGSV ss78431959 Dec 06, 2007 (129)
16 ILLUMINA ss79122398 Dec 15, 2007 (130)
17 HGSV ss83652367 Dec 15, 2007 (130)
18 KRIBB_YJKIM ss84004829 Dec 15, 2007 (130)
19 HGSV ss84112648 Dec 15, 2007 (130)
20 HGSV ss85548591 Dec 15, 2007 (130)
21 HGSV ss85698847 Dec 15, 2007 (130)
22 BCMHGSC_JDW ss91877545 Mar 24, 2008 (129)
23 SHGC ss99307576 Feb 04, 2009 (130)
24 1000GENOMES ss112551461 Jan 25, 2009 (130)
25 1000GENOMES ss114036038 Jan 25, 2009 (130)
26 ILLUMINA-UK ss117362071 Feb 14, 2009 (130)
27 ILLUMINA ss121961172 Dec 01, 2009 (131)
28 ILLUMINA ss153891291 Dec 01, 2009 (131)
29 GMI ss157034584 Dec 01, 2009 (131)
30 ILLUMINA ss159371143 Dec 01, 2009 (131)
31 ILLUMINA ss160519556 Dec 01, 2009 (131)
32 COMPLETE_GENOMICS ss167683178 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss168891597 Jul 04, 2010 (132)
34 ILLUMINA ss171112281 Jul 04, 2010 (132)
35 ILLUMINA ss173204082 Jul 04, 2010 (132)
36 BUSHMAN ss204050444 Jul 04, 2010 (132)
37 1000GENOMES ss228618140 Jul 14, 2010 (132)
38 1000GENOMES ss238022300 Jul 15, 2010 (132)
39 1000GENOMES ss244151659 Jul 15, 2010 (132)
40 BL ss255842564 May 09, 2011 (134)
41 GMI ss283587217 May 04, 2012 (137)
42 PJP ss292736317 May 09, 2011 (134)
43 ILLUMINA ss480478397 May 04, 2012 (137)
44 ILLUMINA ss480492758 May 04, 2012 (137)
45 ILLUMINA ss481292562 Sep 08, 2015 (146)
46 ILLUMINA ss485036691 May 04, 2012 (137)
47 ILLUMINA ss537059736 Sep 08, 2015 (146)
48 TISHKOFF ss566560783 Apr 25, 2013 (138)
49 SSMP ss662483741 Apr 25, 2013 (138)
50 ILLUMINA ss778486949 Aug 21, 2014 (142)
51 ILLUMINA ss782964586 Aug 21, 2014 (142)
52 ILLUMINA ss783926483 Aug 21, 2014 (142)
53 ILLUMINA ss825452916 Apr 01, 2015 (144)
54 ILLUMINA ss832220845 Apr 01, 2015 (144)
55 ILLUMINA ss832882965 Aug 21, 2014 (142)
56 ILLUMINA ss833473795 Aug 21, 2014 (142)
57 ILLUMINA ss833942894 Aug 21, 2014 (142)
58 EVA-GONL ss995222789 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1082570461 Aug 21, 2014 (142)
60 1000GENOMES ss1366683088 Aug 21, 2014 (142)
61 DDI ss1429219782 Apr 01, 2015 (144)
62 EVA_GENOME_DK ss1579704263 Apr 01, 2015 (144)
63 EVA_UK10K_ALSPAC ss1639753934 Apr 01, 2015 (144)
64 EVA_UK10K_TWINSUK ss1682747967 Apr 01, 2015 (144)
65 EVA_DECODE ss1699291895 Apr 01, 2015 (144)
66 EVA_MGP ss1711560475 Apr 01, 2015 (144)
67 EVA_SVP ss1713731245 Apr 01, 2015 (144)
68 ILLUMINA ss1752413971 Sep 08, 2015 (146)
69 HAMMER_LAB ss1809733983 Sep 08, 2015 (146)
70 WEILL_CORNELL_DGM ss1938784389 Feb 12, 2016 (147)
71 ILLUMINA ss1946577619 Feb 12, 2016 (147)
72 ILLUMINA ss1959965703 Feb 12, 2016 (147)
73 GENOMED ss1969246876 Jul 19, 2016 (147)
74 JJLAB ss2030165208 Sep 14, 2016 (149)
75 USC_VALOUEV ss2158775166 Dec 20, 2016 (150)
76 HUMAN_LONGEVITY ss2246456955 Dec 20, 2016 (150)
77 TOPMED ss2413283833 Dec 20, 2016 (150)
78 SYSTEMSBIOZJU ss2629580754 Nov 08, 2017 (151)
79 ILLUMINA ss2633862769 Nov 08, 2017 (151)
80 GRF ss2704518121 Nov 08, 2017 (151)
81 ILLUMINA ss2710952867 Nov 08, 2017 (151)
82 GNOMAD ss2972986223 Nov 08, 2017 (151)
83 AFFY ss2985850705 Nov 08, 2017 (151)
84 SWEGEN ss3019086362 Nov 08, 2017 (151)
85 ILLUMINA ss3022171889 Nov 08, 2017 (151)
86 BIOINF_KMB_FNS_UNIBA ss3028920319 Nov 08, 2017 (151)
87 CSHL ss3352776489 Nov 08, 2017 (151)
88 TOPMED ss3374060902 Nov 08, 2017 (151)
89 ILLUMINA ss3625799483 Oct 12, 2018 (152)
90 ILLUMINA ss3628506008 Oct 12, 2018 (152)
91 ILLUMINA ss3631815165 Oct 12, 2018 (152)
92 ILLUMINA ss3633268861 Oct 12, 2018 (152)
93 ILLUMINA ss3633984251 Oct 12, 2018 (152)
94 ILLUMINA ss3634860944 Oct 12, 2018 (152)
95 ILLUMINA ss3635668888 Oct 12, 2018 (152)
96 ILLUMINA ss3636556579 Oct 12, 2018 (152)
97 ILLUMINA ss3637421081 Oct 12, 2018 (152)
98 ILLUMINA ss3638374439 Oct 12, 2018 (152)
99 ILLUMINA ss3639191044 Oct 12, 2018 (152)
100 ILLUMINA ss3639611680 Oct 12, 2018 (152)
101 ILLUMINA ss3640568245 Oct 12, 2018 (152)
102 ILLUMINA ss3643334847 Oct 12, 2018 (152)
103 ILLUMINA ss3644796325 Oct 12, 2018 (152)
104 ILLUMINA ss3652633441 Oct 12, 2018 (152)
105 EGCUT_WGS ss3685618864 Jul 13, 2019 (153)
106 EVA_DECODE ss3707954946 Jul 13, 2019 (153)
107 ILLUMINA ss3725957488 Jul 13, 2019 (153)
108 ACPOP ss3743823278 Jul 13, 2019 (153)
109 ILLUMINA ss3744205022 Jul 13, 2019 (153)
110 ILLUMINA ss3745160775 Jul 13, 2019 (153)
111 EVA ss3759230912 Jul 13, 2019 (153)
112 PAGE_CC ss3772082267 Jul 13, 2019 (153)
113 ILLUMINA ss3772656758 Jul 13, 2019 (153)
114 KHV_HUMAN_GENOMES ss3822398802 Jul 13, 2019 (153)
115 EVA ss3835927799 Apr 27, 2020 (154)
116 EVA ss3841592400 Apr 27, 2020 (154)
117 EVA ss3847107060 Apr 27, 2020 (154)
118 HGDP ss3847684685 Apr 27, 2020 (154)
119 SGDP_PRJ ss3890256785 Apr 27, 2020 (154)
120 KRGDB ss3940640374 Apr 27, 2020 (154)
121 KOGIC ss3983389640 Apr 27, 2020 (154)
122 FSA-LAB ss3984229792 Apr 26, 2021 (155)
123 EVA ss3984450649 Apr 26, 2021 (155)
124 EVA ss3984758327 Apr 26, 2021 (155)
125 EVA ss3985910177 Apr 26, 2021 (155)
126 EVA ss3986853412 Apr 26, 2021 (155)
127 EVA ss4017873651 Apr 26, 2021 (155)
128 TOPMED ss5105107715 Apr 26, 2021 (155)
129 TOMMO_GENOMICS ss5232040527 Apr 26, 2021 (155)
130 EVA ss5237254840 Apr 26, 2021 (155)
131 EVA ss5237615143 Apr 26, 2021 (155)
132 1000Genomes NC_000022.10 - 19950428 Oct 12, 2018 (152)
133 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19950428 Oct 12, 2018 (152)
134 Genetic variation in the Estonian population NC_000022.10 - 19950428 Oct 12, 2018 (152)
135 The Danish reference pan genome NC_000022.10 - 19950428 Apr 27, 2020 (154)
136 gnomAD - Genomes NC_000022.11 - 19962905 Apr 26, 2021 (155)
137 Genome of the Netherlands Release 5 NC_000022.10 - 19950428 Apr 27, 2020 (154)
138 HGDP-CEPH-db Supplement 1 NC_000022.9 - 18330428 Apr 27, 2020 (154)
139 KOREAN population from KRGDB NC_000022.10 - 19950428 Apr 27, 2020 (154)
140 Korean Genome Project NC_000022.11 - 19962905 Apr 27, 2020 (154)
141 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 19950428 Apr 27, 2020 (154)
142 Northern Sweden NC_000022.10 - 19950428 Jul 13, 2019 (153)
143 The PAGE Study NC_000022.11 - 19962905 Jul 13, 2019 (153)
144 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000022.10 - 19950428 Apr 26, 2021 (155)
145 CNV burdens in cranial meningiomas NC_000022.10 - 19950428 Apr 26, 2021 (155)
146 MxGDAR/Encodat-PGx NC_000022.10 - 19950428 Apr 26, 2021 (155)
147 Qatari NC_000022.10 - 19950428 Apr 27, 2020 (154)
148 SGDP_PRJ NC_000022.10 - 19950428 Apr 27, 2020 (154)
149 Siberian NC_000022.10 - 19950428 Apr 27, 2020 (154)
150 8.3KJPN NC_000022.10 - 19950428 Apr 26, 2021 (155)
151 TopMed NC_000022.11 - 19962905 Apr 26, 2021 (155)
152 UK 10K study - Twins NC_000022.10 - 19950428 Oct 12, 2018 (152)
153 A Vietnamese Genetic Variation Database NC_000022.10 - 19950428 Jul 13, 2019 (153)
154 ALFA NC_000022.11 - 19962905 Apr 26, 2021 (155)
155 ClinVar RCV001029702.1 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)
rs58361251 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78431959, ss83652367, ss84112648, ss85548591, ss85698847, ss3639191044, ss3639611680 NC_000022.8:18324981:A:G NC_000022.11:19962904:A:G (self)
362577, ss91877545, ss112551461, ss114036038, ss117362071, ss160519556, ss167683178, ss168891597, ss204050444, ss255842564, ss283587217, ss292736317, ss480478397, ss825452916, ss1699291895, ss1713731245, ss3643334847, ss3847684685 NC_000022.9:18330427:A:G NC_000022.11:19962904:A:G (self)
80217519, 44382003, 31357112, 5869202, 19773898, 47817768, 676235, 17108143, 1136104, 307908, 3650, 20826311, 42273765, 11291520, 90009834, 44382003, 9792532, ss228618140, ss238022300, ss244151659, ss480492758, ss481292562, ss485036691, ss537059736, ss566560783, ss662483741, ss778486949, ss782964586, ss783926483, ss832220845, ss832882965, ss833473795, ss833942894, ss995222789, ss1082570461, ss1366683088, ss1429219782, ss1579704263, ss1639753934, ss1682747967, ss1711560475, ss1752413971, ss1809733983, ss1938784389, ss1946577619, ss1959965703, ss1969246876, ss2030165208, ss2158775166, ss2413283833, ss2629580754, ss2633862769, ss2704518121, ss2710952867, ss2972986223, ss2985850705, ss3019086362, ss3022171889, ss3352776489, ss3625799483, ss3628506008, ss3631815165, ss3633268861, ss3633984251, ss3634860944, ss3635668888, ss3636556579, ss3637421081, ss3638374439, ss3640568245, ss3644796325, ss3652633441, ss3685618864, ss3743823278, ss3744205022, ss3745160775, ss3759230912, ss3772656758, ss3835927799, ss3841592400, ss3890256785, ss3940640374, ss3984229792, ss3984450649, ss3984758327, ss3985910177, ss3986853412, ss4017873651, ss5232040527, ss5237615143 NC_000022.10:19950427:A:G NC_000022.11:19962904:A:G (self)
RCV001029702.1, 566543655, 39767641, 1303736, 237443248, 380216662, 11248400139, ss2246456955, ss3028920319, ss3374060902, ss3707954946, ss3725957488, ss3772082267, ss3822398802, ss3847107060, ss3983389640, ss5105107715, ss5237254840 NC_000022.11:19962904:A:G NC_000022.11:19962904:A:G (self)
ss3194616, ss6311357, ss12586773, ss12673757, ss16921271, ss44329838, ss48293409, ss66580683, ss66862090, ss67236521, ss67632736, ss70714849, ss71282647, ss74954415, ss79122398, ss84004829, ss99307576, ss121961172, ss153891291, ss157034584, ss159371143, ss171112281, ss173204082 NT_011519.10:3102577:A:G NC_000022.11:19962904:A:G (self)
Help

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

12 citations for rs2239393
PMID Title Author Year Journal
18937309 Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study. Biederman J et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
19094200 Genetic variation in the catechol-O-methyltransferase (COMT) gene and morphine requirements in cancer patients with pain. Rakvåg TT et al. 2008 Molecular pain
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
20150638 Association of COMT haplotypes and breast cancer risk in caucasian women. Peterson NB et al. 2010 Anticancer research
21107304 Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation. Jacobson PA et al. 2011 Transplantation
21206424 Novel polymorphisms associated with tacrolimus trough concentrations: results from a multicenter kidney transplant consortium. Jacobson PA et al. 2011 Transplantation
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
22021758 Interaction of early environment, gender and genes of monoamine neurotransmission in the aetiology of depression in a large population-based Finnish birth cohort. Nyman ES et al. 2011 BMJ open
22963930 Custom genotyping for substance addiction susceptibility genes in Jordanians of Arab descent. Al-Eitan LN et al. 2012 BMC research notes
23209597 Investigating the genetic basis of theory of mind (ToM): the role of catechol-O-methyltransferase (COMT) gene polymorphisms. Xia H et al. 2012 PloS one
23766564 Pharmacogenetics of chronic pain and its treatment. Světlík S et al. 2013 Mediators of inflammation
30178121 Neuroplasticity, Neurotransmission and Brain-Related Genes in Major Depression and Bipolar Disorder: Focus on Treatment Outcomes in an Asiatic Sample. Calabrò M et al. 2018 Advances in therapy
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