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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.

rs740601

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19963240 (GRCh38.p13) Help

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

Alleles
T>A / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.391091 (103518/264690, TOPMED)
G=0.392163 (54815/139776, GnomAD)
G=0.39718 (13245/33348, ALFA) (+ 16 more)
G=0.29946 (5019/16760, 8.3KJPN)
G=0.3686 (1846/5008, 1000G)
G=0.3429 (1536/4480, Estonian)
G=0.4063 (1566/3854, ALSPAC)
G=0.4231 (1569/3708, TWINSUK)
G=0.3432 (1002/2920, KOREAN)
G=0.3872 (731/1888, HapMap)
G=0.3368 (617/1832, Korea1K)
G=0.415 (414/998, GoNL)
G=0.367 (220/600, NorthernSweden)
T=0.362 (108/298, SGDP_PRJ)
G=0.361 (78/216, Qatari)
G=0.377 (80/212, Vietnamese)
G=0.49 (34/70, Ancient Sardinia)
G=0.28 (11/40, GENOME_DK)
T=0.33 (12/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COMT : Intron Variant
MIR4761 : 2KB Upstream Variant
Publications
1 citation
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 33348 T=0.60282 G=0.39718
European Sub 23910 T=0.60251 G=0.39749
African Sub 6842 T=0.5794 G=0.4206
African Others Sub 250 T=0.556 G=0.444
African American Sub 6592 T=0.5802 G=0.4198
Asian Sub 128 T=0.719 G=0.281
East Asian Sub 98 T=0.70 G=0.30
Other Asian Sub 30 T=0.77 G=0.23
Latin American 1 Sub 242 T=0.599 G=0.401
Latin American 2 Sub 1210 T=0.7256 G=0.2744
South Asian Sub 120 T=0.625 G=0.375
Other Sub 896 T=0.606 G=0.394


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.608909 G=0.391091
gnomAD - Genomes Global Study-wide 139776 T=0.607837 G=0.392163
gnomAD - Genomes European Sub 75704 T=0.61273 G=0.38727
gnomAD - Genomes African Sub 41852 T=0.58289 G=0.41711
gnomAD - Genomes American Sub 13638 T=0.66476 G=0.33524
gnomAD - Genomes Ashkenazi Jewish Sub 3314 T=0.5184 G=0.4816
gnomAD - Genomes East Asian Sub 3116 T=0.6717 G=0.3283
gnomAD - Genomes Other Sub 2152 T=0.6055 G=0.3945
Allele Frequency Aggregator Total Global 33348 T=0.60282 G=0.39718
Allele Frequency Aggregator European Sub 23910 T=0.60251 G=0.39749
Allele Frequency Aggregator African Sub 6842 T=0.5794 G=0.4206
Allele Frequency Aggregator Latin American 2 Sub 1210 T=0.7256 G=0.2744
Allele Frequency Aggregator Other Sub 896 T=0.606 G=0.394
Allele Frequency Aggregator Latin American 1 Sub 242 T=0.599 G=0.401
Allele Frequency Aggregator Asian Sub 128 T=0.719 G=0.281
Allele Frequency Aggregator South Asian Sub 120 T=0.625 G=0.375
8.3KJPN JAPANESE Study-wide 16760 T=0.70054 G=0.29946
1000Genomes Global Study-wide 5008 T=0.6314 G=0.3686
1000Genomes African Sub 1322 T=0.5900 G=0.4100
1000Genomes East Asian Sub 1008 T=0.6518 G=0.3482
1000Genomes Europe Sub 1006 T=0.5885 G=0.4115
1000Genomes South Asian Sub 978 T=0.674 G=0.326
1000Genomes American Sub 694 T=0.683 G=0.317
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6571 G=0.3429
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5937 G=0.4063
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5769 G=0.4231
KOREAN population from KRGDB KOREAN Study-wide 2920 T=0.6568 A=0.0000, G=0.3432
HapMap Global Study-wide 1888 T=0.6128 G=0.3872
HapMap American Sub 770 T=0.653 G=0.347
HapMap African Sub 688 T=0.592 G=0.408
HapMap Asian Sub 254 T=0.618 G=0.382
HapMap Europe Sub 176 T=0.511 G=0.489
Korean Genome Project KOREAN Study-wide 1832 T=0.6632 G=0.3368
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.585 G=0.415
Northern Sweden ACPOP Study-wide 600 T=0.633 G=0.367
SGDP_PRJ Global Study-wide 298 T=0.362 G=0.638
Qatari Global Study-wide 216 T=0.639 G=0.361
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.623 G=0.377
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 70 T=0.51 G=0.49
The Danish reference pan genome Danish Study-wide 40 T=0.72 G=0.28
Siberian Global Study-wide 36 T=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.19963240T>A
GRCh38.p13 chr 22 NC_000022.11:g.19963240T>G
GRCh37.p13 chr 22 NC_000022.10:g.19950763T>A
GRCh37.p13 chr 22 NC_000022.10:g.19950763T>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26501T>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26501T>G
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 1 NM_000754.4:c.290-326T>A N/A Intron Variant
COMT transcript variant 2 NM_001135161.2:c.290-326T…

NM_001135161.2:c.290-326T>A

N/A Intron Variant
COMT transcript variant 3 NM_001135162.2:c.290-326T…

NM_001135162.2:c.290-326T>A

N/A Intron Variant
COMT transcript variant 5 NM_001362828.2:c.290-326T…

NM_001362828.2:c.290-326T>A

N/A Intron Variant
COMT transcript variant 4 NM_007310.3:c.140-326T>A 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.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= A G
GRCh38.p13 chr 22 NC_000022.11:g.19963240= NC_000022.11:g.19963240T>A NC_000022.11:g.19963240T>G
GRCh37.p13 chr 22 NC_000022.10:g.19950763= NC_000022.10:g.19950763T>A NC_000022.10:g.19950763T>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.26501= NG_011526.1:g.26501T>A NG_011526.1:g.26501T>G
COMT transcript variant 1 NM_000754.3:c.290-326= NM_000754.3:c.290-326T>A NM_000754.3:c.290-326T>G
COMT transcript variant 1 NM_000754.4:c.290-326= NM_000754.4:c.290-326T>A NM_000754.4:c.290-326T>G
COMT transcript variant 2 NM_001135161.1:c.290-326= NM_001135161.1:c.290-326T>A NM_001135161.1:c.290-326T>G
COMT transcript variant 2 NM_001135161.2:c.290-326= NM_001135161.2:c.290-326T>A NM_001135161.2:c.290-326T>G
COMT transcript variant 3 NM_001135162.1:c.290-326= NM_001135162.1:c.290-326T>A NM_001135162.1:c.290-326T>G
COMT transcript variant 3 NM_001135162.2:c.290-326= NM_001135162.2:c.290-326T>A NM_001135162.2:c.290-326T>G
COMT transcript variant 5 NM_001362828.2:c.290-326= NM_001362828.2:c.290-326T>A NM_001362828.2:c.290-326T>G
COMT transcript variant 4 NM_007310.2:c.140-326= NM_007310.2:c.140-326T>A NM_007310.2:c.140-326T>G
COMT transcript variant 4 NM_007310.3:c.140-326= NM_007310.3:c.140-326T>A NM_007310.3:c.140-326T>G
COMT transcript variant X1 XM_005261229.1:c.290-326= XM_005261229.1:c.290-326T>A XM_005261229.1:c.290-326T>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#.

72 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss88857 Oct 05, 2000 (86)
2 RIKENSNPRC ss6311358 Feb 20, 2003 (111)
3 SC_SNP ss7994507 Apr 21, 2003 (114)
4 EGP_SNPS ss12673760 Dec 05, 2003 (119)
5 SC_SNP ss13344412 Dec 05, 2003 (119)
6 CSHL-HAPMAP ss16925323 Feb 27, 2004 (120)
7 ABI ss44317333 Mar 13, 2006 (126)
8 ILLUMINA ss75250493 Dec 07, 2007 (129)
9 HGSV ss78809796 Dec 07, 2007 (129)
10 HGSV ss86187046 Dec 16, 2007 (130)
11 1000GENOMES ss112551465 Jan 25, 2009 (130)
12 1000GENOMES ss114036049 Jan 25, 2009 (130)
13 ILLUMINA-UK ss117362073 Feb 14, 2009 (130)
14 KRIBB_YJKIM ss119365707 Dec 01, 2009 (131)
15 ILLUMINA ss152536483 Dec 01, 2009 (131)
16 GMI ss157034591 Dec 01, 2009 (131)
17 ILLUMINA ss159102647 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss167683189 Jul 04, 2010 (132)
19 ILLUMINA ss168871108 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss168891612 Jul 04, 2010 (132)
21 ILLUMINA ss174364248 Jul 04, 2010 (132)
22 BUSHMAN ss204050445 Jul 04, 2010 (132)
23 1000GENOMES ss228618143 Jul 14, 2010 (132)
24 1000GENOMES ss238022301 Jul 15, 2010 (132)
25 1000GENOMES ss244151660 Jul 15, 2010 (132)
26 BL ss255842566 May 09, 2011 (134)
27 GMI ss283587218 May 04, 2012 (137)
28 GMI ss287550245 Apr 25, 2013 (138)
29 PJP ss292736318 May 09, 2011 (134)
30 TISHKOFF ss566560785 Apr 25, 2013 (138)
31 SSMP ss662483742 Apr 25, 2013 (138)
32 ILLUMINA ss832615443 Jul 13, 2019 (153)
33 EVA-GONL ss995222790 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1082570462 Aug 21, 2014 (142)
35 1000GENOMES ss1366683102 Aug 21, 2014 (142)
36 DDI ss1429219783 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1579704264 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1639753943 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1682747976 Apr 01, 2015 (144)
40 EVA_DECODE ss1699291897 Apr 01, 2015 (144)
41 EVA_SVP ss1713731246 Apr 01, 2015 (144)
42 HAMMER_LAB ss1809733984 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1938784391 Feb 12, 2016 (147)
44 JJLAB ss2030165209 Sep 14, 2016 (149)
45 USC_VALOUEV ss2158775167 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2246456982 Dec 20, 2016 (150)
47 TOPMED ss2413283859 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2629580755 Nov 08, 2017 (151)
49 GRF ss2704518122 Nov 08, 2017 (151)
50 GNOMAD ss2972986254 Nov 08, 2017 (151)
51 AFFY ss2985850706 Nov 08, 2017 (151)
52 SWEGEN ss3019086367 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3028920320 Nov 08, 2017 (151)
54 CSHL ss3352776490 Nov 08, 2017 (151)
55 TOPMED ss3374060984 Nov 08, 2017 (151)
56 ILLUMINA ss3638374440 Oct 12, 2018 (152)
57 ILLUMINA ss3638374441 Oct 12, 2018 (152)
58 ILLUMINA ss3643334848 Oct 12, 2018 (152)
59 EGCUT_WGS ss3685618869 Jul 13, 2019 (153)
60 EVA_DECODE ss3707954951 Jul 13, 2019 (153)
61 ACPOP ss3743823279 Jul 13, 2019 (153)
62 EVA ss3759230919 Jul 13, 2019 (153)
63 KHV_HUMAN_GENOMES ss3822398805 Jul 13, 2019 (153)
64 EVA ss3835927800 Apr 27, 2020 (154)
65 EVA ss3841592401 Apr 27, 2020 (154)
66 EVA ss3847107061 Apr 27, 2020 (154)
67 SGDP_PRJ ss3890256789 Apr 27, 2020 (154)
68 KRGDB ss3940640382 Apr 27, 2020 (154)
69 KOGIC ss3983389645 Apr 27, 2020 (154)
70 EVA ss3985910178 Apr 26, 2021 (155)
71 TOPMED ss5105107828 Apr 26, 2021 (155)
72 TOMMO_GENOMICS ss5232040539 Apr 26, 2021 (155)
73 1000Genomes NC_000022.10 - 19950763 Oct 12, 2018 (152)
74 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19950763 Oct 12, 2018 (152)
75 Genetic variation in the Estonian population NC_000022.10 - 19950763 Oct 12, 2018 (152)
76 The Danish reference pan genome NC_000022.10 - 19950763 Apr 27, 2020 (154)
77 gnomAD - Genomes NC_000022.11 - 19963240 Apr 26, 2021 (155)
78 Genome of the Netherlands Release 5 NC_000022.10 - 19950763 Apr 27, 2020 (154)
79 HapMap NC_000022.11 - 19963240 Apr 27, 2020 (154)
80 KOREAN population from KRGDB NC_000022.10 - 19950763 Apr 27, 2020 (154)
81 Korean Genome Project NC_000022.11 - 19963240 Apr 27, 2020 (154)
82 Northern Sweden NC_000022.10 - 19950763 Jul 13, 2019 (153)
83 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000022.10 - 19950763 Apr 26, 2021 (155)
84 Qatari NC_000022.10 - 19950763 Apr 27, 2020 (154)
85 SGDP_PRJ NC_000022.10 - 19950763 Apr 27, 2020 (154)
86 Siberian NC_000022.10 - 19950763 Apr 27, 2020 (154)
87 8.3KJPN NC_000022.10 - 19950763 Apr 26, 2021 (155)
88 TopMed NC_000022.11 - 19963240 Apr 26, 2021 (155)
89 UK 10K study - Twins NC_000022.10 - 19950763 Oct 12, 2018 (152)
90 A Vietnamese Genetic Variation Database NC_000022.10 - 19950763 Jul 13, 2019 (153)
91 ALFA NC_000022.11 - 19963240 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs61293750 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
47817776, ss3940640382 NC_000022.10:19950762:T:A NC_000022.11:19963239:T:A (self)
ss78809796, ss86187046 NC_000022.8:18325316:T:G NC_000022.11:19963239:T:G (self)
ss112551465, ss114036049, ss117362073, ss167683189, ss168891612, ss204050445, ss255842566, ss283587218, ss287550245, ss292736318, ss1699291897, ss1713731246, ss3643334848 NC_000022.9:18330762:T:G NC_000022.11:19963239:T:G (self)
80217532, 44382012, 31357117, 5869203, 19773899, 47817776, 17108144, 1136105, 20826313, 42273769, 11291521, 90009846, 44382012, 9792533, ss228618143, ss238022301, ss244151660, ss566560785, ss662483742, ss832615443, ss995222790, ss1082570462, ss1366683102, ss1429219783, ss1579704264, ss1639753943, ss1682747976, ss1809733984, ss1938784391, ss2030165209, ss2158775167, ss2413283859, ss2629580755, ss2704518122, ss2972986254, ss2985850706, ss3019086367, ss3352776490, ss3638374440, ss3638374441, ss3685618869, ss3743823279, ss3759230919, ss3835927800, ss3841592401, ss3890256789, ss3940640382, ss3985910178, ss5232040539 NC_000022.10:19950762:T:G NC_000022.11:19963239:T:G (self)
566543746, 2227940, 39767646, 237443322, 380216775, 929993183, ss2246456982, ss3028920320, ss3374060984, ss3707954951, ss3822398805, ss3847107061, ss3983389645, ss5105107828 NC_000022.11:19963239:T:G NC_000022.11:19963239:T:G (self)
ss88857, ss6311358, ss7994507, ss12673760, ss13344412, ss16925323, ss44317333, ss75250493, ss119365707, ss152536483, ss157034591, ss159102647, ss168871108, ss174364248 NT_011519.10:3102912:T:G NC_000022.11:19963239:T:G (self)
Help

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

1 citation for rs740601
PMID Title Author Year Journal
22832821 Working memory brain activity and capacity link MAOA polymorphism to aggressive behavior during development. Ziermans T et al. 2012 Translational psychiatry
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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