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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.

rs7290221

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19955157 (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
C>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.495878 (131254/264690, TOPMED)
G=0.497335 (69618/139982, GnomAD)
G=0.39785 (6668/16760, 8.3KJPN) (+ 14 more)
G=0.3289 (3267/9934, ALFA)
G=0.4908 (2458/5008, 1000G)
G=0.4433 (1986/4480, Estonian)
C=0.4904 (1890/3854, ALSPAC)
C=0.4725 (1752/3708, TWINSUK)
G=0.4304 (1261/2930, KOREAN)
G=0.4214 (772/1832, Korea1K)
C=0.478 (477/998, GoNL)
G=0.447 (268/600, NorthernSweden)
C=0.316 (122/386, SGDP_PRJ)
G=0.491 (106/216, Qatari)
G=0.434 (92/212, Vietnamese)
C=0.30 (13/44, Siberian)
G=0.40 (16/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COMT : Intron Variant
Publications
3 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 9934 C=0.6711 A=0.0000, G=0.3289
European Sub 8416 C=0.6322 A=0.0000, G=0.3678
African Sub 820 C=0.922 A=0.000, G=0.078
African Others Sub 30 C=0.97 A=0.00, G=0.03
African American Sub 790 C=0.920 A=0.000, G=0.080
Asian Sub 40 C=0.97 A=0.00, G=0.03
East Asian Sub 26 C=1.00 A=0.00, G=0.00
Other Asian Sub 14 C=0.93 A=0.00, G=0.07
Latin American 1 Sub 28 C=1.00 A=0.00, G=0.00
Latin American 2 Sub 254 C=1.000 A=0.000, G=0.000
South Asian Sub 42 C=0.98 A=0.00, G=0.02
Other Sub 334 C=0.683 A=0.000, G=0.317


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 C=0.495878 G=0.504122
gnomAD - Genomes Global Study-wide 139982 C=0.502665 G=0.497335
gnomAD - Genomes European Sub 75832 C=0.51149 G=0.48851
gnomAD - Genomes African Sub 41916 C=0.48449 G=0.51551
gnomAD - Genomes American Sub 13644 C=0.53086 G=0.46914
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.3415 G=0.6585
gnomAD - Genomes East Asian Sub 3118 C=0.6055 G=0.3945
gnomAD - Genomes Other Sub 2148 C=0.4669 G=0.5331
8.3KJPN JAPANESE Study-wide 16760 C=0.60215 G=0.39785
Allele Frequency Aggregator Total Global 9934 C=0.6711 A=0.0000, G=0.3289
Allele Frequency Aggregator European Sub 8416 C=0.6322 A=0.0000, G=0.3678
Allele Frequency Aggregator African Sub 820 C=0.922 A=0.000, G=0.078
Allele Frequency Aggregator Other Sub 334 C=0.683 A=0.000, G=0.317
Allele Frequency Aggregator Latin American 2 Sub 254 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator South Asian Sub 42 C=0.98 A=0.00, G=0.02
Allele Frequency Aggregator Asian Sub 40 C=0.97 A=0.00, G=0.03
Allele Frequency Aggregator Latin American 1 Sub 28 C=1.00 A=0.00, G=0.00
1000Genomes Global Study-wide 5008 C=0.5092 G=0.4908
1000Genomes African Sub 1322 C=0.4523 G=0.5477
1000Genomes East Asian Sub 1008 C=0.6032 G=0.3968
1000Genomes Europe Sub 1006 C=0.4682 G=0.5318
1000Genomes South Asian Sub 978 C=0.485 G=0.515
1000Genomes American Sub 694 C=0.575 G=0.425
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5567 G=0.4433
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.4904 G=0.5096
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.4725 G=0.5275
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.5696 G=0.4304
Korean Genome Project KOREAN Study-wide 1832 C=0.5786 G=0.4214
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.478 G=0.522
Northern Sweden ACPOP Study-wide 600 C=0.553 G=0.447
SGDP_PRJ Global Study-wide 386 C=0.316 G=0.684
Qatari Global Study-wide 216 C=0.509 G=0.491
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.566 G=0.434
Siberian Global Study-wide 44 C=0.30 G=0.70
The Danish reference pan genome Danish Study-wide 40 C=0.60 G=0.40
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.19955157C>A
GRCh38.p13 chr 22 NC_000022.11:g.19955157C>G
GRCh37.p13 chr 22 NC_000022.10:g.19942680C>A
GRCh37.p13 chr 22 NC_000022.10:g.19942680C>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.18418C>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.18418C>G
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 1 NM_000754.4:c.-91-6042C>A N/A Intron Variant
COMT transcript variant 2 NM_001135161.2:c.-92+4105…

NM_001135161.2:c.-92+4105C>A

N/A Intron Variant
COMT transcript variant 3 NM_001135162.2:c.-92+3503…

NM_001135162.2:c.-92+3503C>A

N/A Intron Variant
COMT transcript variant 5 NM_001362828.2:c.-385-604…

NM_001362828.2:c.-385-6042C>A

N/A Intron Variant
COMT transcript variant 4 NM_007310.3:c. N/A Genic 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 C= A G
GRCh38.p13 chr 22 NC_000022.11:g.19955157= NC_000022.11:g.19955157C>A NC_000022.11:g.19955157C>G
GRCh37.p13 chr 22 NC_000022.10:g.19942680= NC_000022.10:g.19942680C>A NC_000022.10:g.19942680C>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.18418= NG_011526.1:g.18418C>A NG_011526.1:g.18418C>G
COMT transcript variant 1 NM_000754.3:c.-91-6042= NM_000754.3:c.-91-6042C>A NM_000754.3:c.-91-6042C>G
COMT transcript variant 1 NM_000754.4:c.-91-6042= NM_000754.4:c.-91-6042C>A NM_000754.4:c.-91-6042C>G
COMT transcript variant 2 NM_001135161.1:c.-92+4105= NM_001135161.1:c.-92+4105C>A NM_001135161.1:c.-92+4105C>G
COMT transcript variant 2 NM_001135161.2:c.-92+4105= NM_001135161.2:c.-92+4105C>A NM_001135161.2:c.-92+4105C>G
COMT transcript variant 3 NM_001135162.1:c.-92+3503= NM_001135162.1:c.-92+3503C>A NM_001135162.1:c.-92+3503C>G
COMT transcript variant 3 NM_001135162.2:c.-92+3503= NM_001135162.2:c.-92+3503C>A NM_001135162.2:c.-92+3503C>G
COMT transcript variant 5 NM_001362828.2:c.-385-6042= NM_001362828.2:c.-385-6042C>A NM_001362828.2:c.-385-6042C>G
COMT transcript variant X1 XM_005261229.1:c.-385-6042= XM_005261229.1:c.-385-6042C>A XM_005261229.1:c.-385-6042C>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#.

65 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss11006436 Jul 11, 2003 (116)
2 EGP_SNPS ss12673731 Dec 05, 2003 (119)
3 SC_SNP ss13346908 Dec 05, 2003 (119)
4 CSHL-HAPMAP ss17722275 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss19502756 Feb 27, 2004 (120)
6 SNP500CANCER ss48293390 Mar 14, 2006 (126)
7 HGSV ss77503536 Dec 07, 2007 (129)
8 HGSV ss78981508 Dec 07, 2007 (129)
9 BCMHGSC_JDW ss91877524 Mar 24, 2008 (129)
10 HUMANGENOME_JCVI ss96114947 Feb 04, 2009 (130)
11 1000GENOMES ss112551417 Jan 25, 2009 (130)
12 1000GENOMES ss114035964 Jan 25, 2009 (130)
13 ILLUMINA-UK ss117362050 Feb 14, 2009 (130)
14 ENSEMBL ss138335187 Dec 01, 2009 (131)
15 ENSEMBL ss142867493 Dec 01, 2009 (131)
16 GMI ss157034521 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss168891434 Jul 04, 2010 (132)
18 BUSHMAN ss204050427 Jul 04, 2010 (132)
19 1000GENOMES ss228618105 Jul 14, 2010 (132)
20 1000GENOMES ss238022281 Jul 15, 2010 (132)
21 1000GENOMES ss244151642 Jul 15, 2010 (132)
22 BL ss255842533 May 09, 2011 (134)
23 GMI ss283587197 May 04, 2012 (137)
24 GMI ss287550235 Apr 25, 2013 (138)
25 PJP ss292736303 May 09, 2011 (134)
26 TISHKOFF ss566560742 Apr 25, 2013 (138)
27 SSMP ss662483706 Apr 25, 2013 (138)
28 EVA-GONL ss995222725 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1082570425 Aug 21, 2014 (142)
30 1000GENOMES ss1366682863 Aug 21, 2014 (142)
31 DDI ss1429219766 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1579704245 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1639753827 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1682747860 Apr 01, 2015 (144)
35 EVA_DECODE ss1699291828 Apr 01, 2015 (144)
36 HAMMER_LAB ss1809733958 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1938784317 Feb 12, 2016 (147)
38 JJLAB ss2030165177 Sep 14, 2016 (149)
39 USC_VALOUEV ss2158775126 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2246456498 Dec 20, 2016 (150)
41 TOPMED ss2413283336 Dec 20, 2016 (150)
42 SYSTEMSBIOZJU ss2629580738 Nov 08, 2017 (151)
43 ILLUMINA ss2635110813 Nov 08, 2017 (151)
44 GRF ss2704518065 Nov 08, 2017 (151)
45 GNOMAD ss2972985525 Nov 08, 2017 (151)
46 AFFY ss2985850667 Nov 08, 2017 (151)
47 SWEGEN ss3019086240 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3028920302 Nov 08, 2017 (151)
49 CSHL ss3352776459 Nov 08, 2017 (151)
50 TOPMED ss3374059365 Nov 08, 2017 (151)
51 TOPMED ss3374059366 Nov 08, 2017 (151)
52 URBANLAB ss3651151864 Oct 12, 2018 (152)
53 EGCUT_WGS ss3685618751 Jul 13, 2019 (153)
54 EVA_DECODE ss3707954809 Jul 13, 2019 (153)
55 ACPOP ss3743823221 Jul 13, 2019 (153)
56 EVA ss3759230833 Jul 13, 2019 (153)
57 KHV_HUMAN_GENOMES ss3822398730 Jul 13, 2019 (153)
58 EVA ss3835927764 Apr 27, 2020 (154)
59 EVA ss3841592388 Apr 27, 2020 (154)
60 EVA ss3847107044 Apr 27, 2020 (154)
61 SGDP_PRJ ss3890256665 Apr 27, 2020 (154)
62 KRGDB ss3940640178 Apr 27, 2020 (154)
63 KOGIC ss3983389495 Apr 27, 2020 (154)
64 TOPMED ss5105105739 Apr 26, 2021 (155)
65 TOMMO_GENOMICS ss5232040237 Apr 26, 2021 (155)
66 1000Genomes NC_000022.10 - 19942680 Oct 12, 2018 (152)
67 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19942680 Oct 12, 2018 (152)
68 Genetic variation in the Estonian population NC_000022.10 - 19942680 Oct 12, 2018 (152)
69 The Danish reference pan genome NC_000022.10 - 19942680 Apr 27, 2020 (154)
70 gnomAD - Genomes NC_000022.11 - 19955157 Apr 26, 2021 (155)
71 Genome of the Netherlands Release 5 NC_000022.10 - 19942680 Apr 27, 2020 (154)
72 KOREAN population from KRGDB NC_000022.10 - 19942680 Apr 27, 2020 (154)
73 Korean Genome Project NC_000022.11 - 19955157 Apr 27, 2020 (154)
74 Northern Sweden NC_000022.10 - 19942680 Jul 13, 2019 (153)
75 Qatari NC_000022.10 - 19942680 Apr 27, 2020 (154)
76 SGDP_PRJ NC_000022.10 - 19942680 Apr 27, 2020 (154)
77 Siberian NC_000022.10 - 19942680 Apr 27, 2020 (154)
78 8.3KJPN NC_000022.10 - 19942680 Apr 26, 2021 (155)
79 TopMed NC_000022.11 - 19955157 Apr 26, 2021 (155)
80 UK 10K study - Twins NC_000022.10 - 19942680 Oct 12, 2018 (152)
81 A Vietnamese Genetic Variation Database NC_000022.10 - 19942680 Jul 13, 2019 (153)
82 ALFA NC_000022.11 - 19955157 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
7088151171, ss2246456498, ss3374059365 NC_000022.11:19955156:C:A NC_000022.11:19955156:C:A (self)
ss77503536, ss78981508 NC_000022.8:18317233:C:G NC_000022.11:19955156:C:G (self)
ss91877524, ss112551417, ss114035964, ss117362050, ss168891434, ss204050427, ss255842533, ss283587197, ss287550235, ss292736303, ss1699291828, ss2635110813 NC_000022.9:18322679:C:G NC_000022.11:19955156:C:G (self)
80217285, 44381882, 31356999, 5869184, 19773842, 47817572, 17108086, 20826239, 42273645, 11291480, 90009544, 44381882, 9792498, ss228618105, ss238022281, ss244151642, ss566560742, ss662483706, ss995222725, ss1082570425, ss1366682863, ss1429219766, ss1579704245, ss1639753827, ss1682747860, ss1809733958, ss1938784317, ss2030165177, ss2158775126, ss2413283336, ss2629580738, ss2704518065, ss2972985525, ss2985850667, ss3019086240, ss3352776459, ss3685618751, ss3743823221, ss3759230833, ss3835927764, ss3841592388, ss3890256665, ss3940640178, ss5232040237 NC_000022.10:19942679:C:G NC_000022.11:19955156:C:G (self)
566541878, 39767496, 237442000, 380214686, 7088151171, ss2246456498, ss3028920302, ss3374059366, ss3651151864, ss3707954809, ss3822398730, ss3847107044, ss3983389495, ss5105105739 NC_000022.11:19955156:C:G NC_000022.11:19955156:C:G (self)
ss11006436, ss12673731, ss13346908, ss17722275, ss19502756, ss48293390, ss96114947, ss138335187, ss142867493, ss157034521 NT_011519.10:3094829:C:G NC_000022.11:19955156:C:G (self)
Help

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

3 citations for rs7290221
PMID Title Author Year Journal
19015200 Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer. Freedman ND et al. 2009 Carcinogenesis
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
20150638 Association of COMT haplotypes and breast cancer risk in caucasian women. Peterson NB et al. 2010 Anticancer research
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