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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.

rs9332377

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19968169 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.206751 (54725/264690, TOPMED)
T=0.155178 (27114/174728, ALFA)
T=0.20906 (16452/78696, PAGE_STUDY) (+ 12 more)
T=0.1723 (863/5008, 1000G)
T=0.1708 (765/4480, Estonian)
T=0.1533 (591/3854, ALSPAC)
T=0.1564 (580/3708, TWINSUK)
T=0.2399 (392/1634, HapMap)
T=0.176 (176/998, GoNL)
T=0.005 (4/792, PRJEB37584)
T=0.181 (39/216, Qatari)
T=0.005 (1/210, Vietnamese)
C=0.441 (52/118, SGDP_PRJ)
T=0.10 (4/40, GENOME_DK)
C=0.42 (5/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARVCF : Intron Variant
COMT : Intron Variant
Publications
30 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 174728 C=0.844822 A=0.000000, T=0.155178
European Sub 151226 C=0.845397 A=0.000000, T=0.154603
African Sub 6062 C=0.7267 A=0.0000, T=0.2733
African Others Sub 172 C=0.698 A=0.000, T=0.302
African American Sub 5890 C=0.7275 A=0.0000, T=0.2725
Asian Sub 754 C=0.984 A=0.000, T=0.016
East Asian Sub 592 C=0.997 A=0.000, T=0.003
Other Asian Sub 162 C=0.938 A=0.000, T=0.062
Latin American 1 Sub 836 C=0.837 A=0.000, T=0.163
Latin American 2 Sub 8386 C=0.9042 A=0.0000, T=0.0958
South Asian Sub 170 C=0.918 A=0.000, T=0.082
Other Sub 7294 C=0.8475 A=0.0000, T=0.1525


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=0.793249 T=0.206751
Allele Frequency Aggregator Total Global 174728 C=0.844822 A=0.000000, T=0.155178
Allele Frequency Aggregator European Sub 151226 C=0.845397 A=0.000000, T=0.154603
Allele Frequency Aggregator Latin American 2 Sub 8386 C=0.9042 A=0.0000, T=0.0958
Allele Frequency Aggregator Other Sub 7294 C=0.8475 A=0.0000, T=0.1525
Allele Frequency Aggregator African Sub 6062 C=0.7267 A=0.0000, T=0.2733
Allele Frequency Aggregator Latin American 1 Sub 836 C=0.837 A=0.000, T=0.163
Allele Frequency Aggregator Asian Sub 754 C=0.984 A=0.000, T=0.016
Allele Frequency Aggregator South Asian Sub 170 C=0.918 A=0.000, T=0.082
The PAGE Study Global Study-wide 78696 C=0.79094 T=0.20906
The PAGE Study AfricanAmerican Sub 32512 C=0.66898 T=0.33102
The PAGE Study Mexican Sub 10810 C=0.90231 T=0.09769
The PAGE Study Asian Sub 8316 C=0.9965 T=0.0035
The PAGE Study PuertoRican Sub 7918 C=0.8045 T=0.1955
The PAGE Study NativeHawaiian Sub 4534 C=0.9127 T=0.0873
The PAGE Study Cuban Sub 4230 C=0.8031 T=0.1969
The PAGE Study Dominican Sub 3828 C=0.7458 T=0.2542
The PAGE Study CentralAmerican Sub 2450 C=0.8788 T=0.1212
The PAGE Study SouthAmerican Sub 1982 C=0.8794 T=0.1206
The PAGE Study NativeAmerican Sub 1260 C=0.8389 T=0.1611
The PAGE Study SouthAsian Sub 856 C=0.864 T=0.136
1000Genomes Global Study-wide 5008 C=0.8277 T=0.1723
1000Genomes African Sub 1322 C=0.6392 T=0.3608
1000Genomes East Asian Sub 1008 C=0.9970 T=0.0030
1000Genomes Europe Sub 1006 C=0.8489 T=0.1511
1000Genomes South Asian Sub 978 C=0.854 T=0.146
1000Genomes American Sub 694 C=0.873 T=0.127
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8292 T=0.1708
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8467 T=0.1533
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8436 T=0.1564
HapMap Global Study-wide 1634 C=0.7601 T=0.2399
HapMap African Sub 690 C=0.639 T=0.361
HapMap American Sub 600 C=0.810 T=0.190
HapMap Europe Sub 174 C=0.839 T=0.161
HapMap Asian Sub 170 C=0.994 T=0.006
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.824 T=0.176
CNV burdens in cranial meningiomas Global Study-wide 792 C=0.995 T=0.005
CNV burdens in cranial meningiomas CRM Sub 792 C=0.995 T=0.005
Qatari Global Study-wide 216 C=0.819 T=0.181
A Vietnamese Genetic Variation Database Global Study-wide 210 C=0.995 T=0.005
SGDP_PRJ Global Study-wide 118 C=0.441 T=0.559
The Danish reference pan genome Danish Study-wide 40 C=0.90 T=0.10
Siberian Global Study-wide 12 C=0.42 T=0.58
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.19968169C>A
GRCh38.p13 chr 22 NC_000022.11:g.19968169C>T
GRCh37.p13 chr 22 NC_000022.10:g.19955692C>A
GRCh37.p13 chr 22 NC_000022.10:g.19955692C>T
ARVCF RefSeqGene NG_023326.1:g.53618G>T
ARVCF RefSeqGene NG_023326.1:g.53618G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.31430C>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.31430C>T
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 1 NM_000754.4:c.616-367C>A N/A Intron Variant
COMT transcript variant 2 NM_001135161.2:c.616-367C…

NM_001135161.2:c.616-367C>A

N/A Intron Variant
COMT transcript variant 3 NM_001135162.2:c.616-367C…

NM_001135162.2:c.616-367C>A

N/A Intron Variant
COMT transcript variant 5 NM_001362828.2:c.616-367C…

NM_001362828.2:c.616-367C>A

N/A Intron Variant
COMT transcript variant 4 NM_007310.3:c.466-367C>A N/A Intron 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.2764-960…

XM_005261242.3:c.2764-960G>T

N/A Intron Variant
ARVCF transcript variant X1 XM_006724243.3:c.2782-960…

XM_006724243.3:c.2782-960G>T

N/A Intron Variant
ARVCF transcript variant X8 XM_006724246.4:c.2536-960…

XM_006724246.4:c.2536-960G>T

N/A Intron Variant
ARVCF transcript variant X3 XM_011530179.3:c.2749-960…

XM_011530179.3:c.2749-960G>T

N/A Intron Variant
ARVCF transcript variant X17 XM_011530182.3:c.1348-960…

XM_011530182.3:c.1348-960G>T

N/A Intron Variant
ARVCF transcript variant X9 XM_024452249.1:c.2536-960…

XM_024452249.1:c.2536-960G>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.

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 T
GRCh38.p13 chr 22 NC_000022.11:g.19968169= NC_000022.11:g.19968169C>A NC_000022.11:g.19968169C>T
GRCh37.p13 chr 22 NC_000022.10:g.19955692= NC_000022.10:g.19955692C>A NC_000022.10:g.19955692C>T
ARVCF RefSeqGene NG_023326.1:g.53618= NG_023326.1:g.53618G>T NG_023326.1:g.53618G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.31430= NG_011526.1:g.31430C>A NG_011526.1:g.31430C>T
COMT transcript variant 1 NM_000754.3:c.616-367= NM_000754.3:c.616-367C>A NM_000754.3:c.616-367C>T
COMT transcript variant 1 NM_000754.4:c.616-367= NM_000754.4:c.616-367C>A NM_000754.4:c.616-367C>T
COMT transcript variant 2 NM_001135161.1:c.616-367= NM_001135161.1:c.616-367C>A NM_001135161.1:c.616-367C>T
COMT transcript variant 2 NM_001135161.2:c.616-367= NM_001135161.2:c.616-367C>A NM_001135161.2:c.616-367C>T
COMT transcript variant 3 NM_001135162.1:c.616-367= NM_001135162.1:c.616-367C>A NM_001135162.1:c.616-367C>T
COMT transcript variant 3 NM_001135162.2:c.616-367= NM_001135162.2:c.616-367C>A NM_001135162.2:c.616-367C>T
COMT transcript variant 5 NM_001362828.2:c.616-367= NM_001362828.2:c.616-367C>A NM_001362828.2:c.616-367C>T
COMT transcript variant 4 NM_007310.2:c.466-367= NM_007310.2:c.466-367C>A NM_007310.2:c.466-367C>T
COMT transcript variant 4 NM_007310.3:c.466-367= NM_007310.3:c.466-367C>A NM_007310.3:c.466-367C>T
COMT transcript variant X1 XM_005261229.1:c.616-367= XM_005261229.1:c.616-367C>A XM_005261229.1:c.616-367C>T
ARVCF transcript variant X2 XM_005261242.1:c.2764-960= XM_005261242.1:c.2764-960G>T XM_005261242.1:c.2764-960G>A
ARVCF transcript variant X2 XM_005261242.3:c.2764-960= XM_005261242.3:c.2764-960G>T XM_005261242.3:c.2764-960G>A
ARVCF transcript variant X1 XM_006724243.3:c.2782-960= XM_006724243.3:c.2782-960G>T XM_006724243.3:c.2782-960G>A
ARVCF transcript variant X8 XM_006724246.4:c.2536-960= XM_006724246.4:c.2536-960G>T XM_006724246.4:c.2536-960G>A
ARVCF transcript variant X3 XM_011530179.3:c.2749-960= XM_011530179.3:c.2749-960G>T XM_011530179.3:c.2749-960G>A
ARVCF transcript variant X17 XM_011530182.3:c.1348-960= XM_011530182.3:c.1348-960G>T XM_011530182.3:c.1348-960G>A
ARVCF transcript variant X9 XM_024452249.1:c.2536-960= XM_024452249.1:c.2536-960G>T XM_024452249.1:c.2536-960G>A
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#.

91 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss12673790 Dec 05, 2003 (119)
2 AFFY ss66469233 Dec 02, 2006 (127)
3 PERLEGEN ss69277071 May 18, 2007 (127)
4 ILLUMINA ss75231894 Dec 07, 2007 (129)
5 AFFY ss76274777 Dec 07, 2007 (129)
6 HGSV ss77636275 Dec 07, 2007 (129)
7 KRIBB_YJKIM ss82569019 Dec 15, 2007 (130)
8 1000GENOMES ss112551520 Jan 25, 2009 (130)
9 ILLUMINA ss160978193 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss167683268 Jul 04, 2010 (132)
11 AFFY ss173071302 Jul 04, 2010 (132)
12 ILLUMINA ss174814861 Jul 04, 2010 (132)
13 BUSHMAN ss204050466 Jul 04, 2010 (132)
14 1000GENOMES ss228618167 Jul 14, 2010 (132)
15 1000GENOMES ss238022319 Jul 15, 2010 (132)
16 ILLUMINA ss244314186 Jul 04, 2010 (132)
17 ILLUMINA ss481871428 May 04, 2012 (137)
18 ILLUMINA ss481904209 May 04, 2012 (137)
19 ILLUMINA ss482863210 Sep 08, 2015 (146)
20 ILLUMINA ss485729919 May 04, 2012 (137)
21 ILLUMINA ss537588105 Sep 08, 2015 (146)
22 TISHKOFF ss566560814 Apr 25, 2013 (138)
23 SSMP ss662483776 Apr 25, 2013 (138)
24 ILLUMINA ss778636016 Sep 08, 2015 (146)
25 ILLUMINA ss783310655 Sep 08, 2015 (146)
26 ILLUMINA ss784262781 Sep 08, 2015 (146)
27 ILLUMINA ss832572102 Sep 08, 2015 (146)
28 ILLUMINA ss834093680 Sep 08, 2015 (146)
29 EVA-GONL ss995222844 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1082570492 Aug 21, 2014 (142)
31 1000GENOMES ss1366683270 Aug 21, 2014 (142)
32 DDI ss1429219799 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1579704285 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1639754021 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1682748054 Apr 01, 2015 (144)
36 EVA_DECODE ss1699291946 Apr 01, 2015 (144)
37 EVA_SVP ss1713731255 Apr 01, 2015 (144)
38 ILLUMINA ss1752413987 Sep 08, 2015 (146)
39 HAMMER_LAB ss1809734003 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1938784436 Feb 12, 2016 (147)
41 ILLUMINA ss1959965725 Feb 12, 2016 (147)
42 GENOMED ss1969246884 Jul 19, 2016 (147)
43 JJLAB ss2030165239 Sep 14, 2016 (149)
44 USC_VALOUEV ss2158775192 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2246457351 Dec 20, 2016 (150)
46 TOPMED ss2413284239 Dec 20, 2016 (150)
47 TOPMED ss2413284240 Dec 20, 2016 (150)
48 ILLUMINA ss2633862793 Nov 08, 2017 (151)
49 ILLUMINA ss2710952876 Nov 08, 2017 (151)
50 GNOMAD ss2972986723 Nov 08, 2017 (151)
51 AFFY ss2985233281 Nov 08, 2017 (151)
52 AFFY ss2985850735 Nov 08, 2017 (151)
53 SWEGEN ss3019086425 Nov 08, 2017 (151)
54 SWEGEN ss3019086426 Nov 08, 2017 (151)
55 ILLUMINA ss3022171913 Nov 08, 2017 (151)
56 BIOINF_KMB_FNS_UNIBA ss3028920335 Nov 08, 2017 (151)
57 CSHL ss3352776511 Nov 08, 2017 (151)
58 TOPMED ss3374062086 Nov 08, 2017 (151)
59 TOPMED ss3374062087 Nov 08, 2017 (151)
60 ILLUMINA ss3628506034 Oct 12, 2018 (152)
61 ILLUMINA ss3631815180 Oct 12, 2018 (152)
62 ILLUMINA ss3633268871 Oct 12, 2018 (152)
63 ILLUMINA ss3633984262 Oct 12, 2018 (152)
64 ILLUMINA ss3634860960 Oct 12, 2018 (152)
65 ILLUMINA ss3635668898 Oct 12, 2018 (152)
66 ILLUMINA ss3636556594 Oct 12, 2018 (152)
67 ILLUMINA ss3637421092 Oct 12, 2018 (152)
68 ILLUMINA ss3638374454 Oct 12, 2018 (152)
69 ILLUMINA ss3640568261 Oct 12, 2018 (152)
70 ILLUMINA ss3641136368 Oct 12, 2018 (152)
71 ILLUMINA ss3641432753 Oct 12, 2018 (152)
72 ILLUMINA ss3643334862 Oct 12, 2018 (152)
73 ILLUMINA ss3652633466 Oct 12, 2018 (152)
74 ILLUMINA ss3654001345 Oct 12, 2018 (152)
75 EGCUT_WGS ss3685618943 Jul 13, 2019 (153)
76 EVA_DECODE ss3707955035 Jul 13, 2019 (153)
77 ILLUMINA ss3725957505 Jul 13, 2019 (153)
78 ACPOP ss3743823311 Jul 13, 2019 (153)
79 ACPOP ss3743823312 Jul 13, 2019 (153)
80 ILLUMINA ss3745160791 Jul 13, 2019 (153)
81 EVA ss3759230971 Jul 13, 2019 (153)
82 PAGE_CC ss3772082285 Jul 13, 2019 (153)
83 ILLUMINA ss3772656774 Jul 13, 2019 (153)
84 KHV_HUMAN_GENOMES ss3822398859 Jul 13, 2019 (153)
85 EVA ss3835927820 Apr 27, 2020 (154)
86 EVA ss3841592414 Apr 27, 2020 (154)
87 EVA ss3847107074 Apr 27, 2020 (154)
88 SGDP_PRJ ss3890256879 Apr 27, 2020 (154)
89 EVA ss3984758334 Apr 26, 2021 (155)
90 TOPMED ss5105109374 Apr 26, 2021 (155)
91 EVA ss5237615151 Apr 26, 2021 (155)
92 1000Genomes NC_000022.10 - 19955692 Oct 12, 2018 (152)
93 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19955692 Oct 12, 2018 (152)
94 Genetic variation in the Estonian population NC_000022.10 - 19955692 Oct 12, 2018 (152)
95 The Danish reference pan genome NC_000022.10 - 19955692 Apr 27, 2020 (154)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 566544958 (NC_000022.11:19968168:C:A 23/140144)
Row 566544959 (NC_000022.11:19968168:C:T 29144/140100)

- Apr 26, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 566544958 (NC_000022.11:19968168:C:A 23/140144)
Row 566544959 (NC_000022.11:19968168:C:T 29144/140100)

- Apr 26, 2021 (155)
98 Genome of the Netherlands Release 5 NC_000022.10 - 19955692 Apr 27, 2020 (154)
99 HapMap NC_000022.11 - 19968169 Apr 27, 2020 (154)
100 Northern Sweden

Submission ignored due to conflicting rows:
Row 17108176 (NC_000022.10:19955691:C:C 500/600, NC_000022.10:19955691:C:T 100/600)
Row 17108177 (NC_000022.10:19955691:C:C 599/600, NC_000022.10:19955691:C:A 1/600)

- Jul 13, 2019 (153)
101 Northern Sweden

Submission ignored due to conflicting rows:
Row 17108176 (NC_000022.10:19955691:C:C 500/600, NC_000022.10:19955691:C:T 100/600)
Row 17108177 (NC_000022.10:19955691:C:C 599/600, NC_000022.10:19955691:C:A 1/600)

- Jul 13, 2019 (153)
102 The PAGE Study NC_000022.11 - 19968169 Jul 13, 2019 (153)
103 CNV burdens in cranial meningiomas NC_000022.10 - 19955692 Apr 26, 2021 (155)
104 Qatari NC_000022.10 - 19955692 Apr 27, 2020 (154)
105 SGDP_PRJ NC_000022.10 - 19955692 Apr 27, 2020 (154)
106 Siberian NC_000022.10 - 19955692 Apr 27, 2020 (154)
107 TopMed NC_000022.11 - 19968169 Apr 26, 2021 (155)
108 UK 10K study - Twins NC_000022.10 - 19955692 Oct 12, 2018 (152)
109 A Vietnamese Genetic Variation Database NC_000022.10 - 19955692 Jul 13, 2019 (153)
110 ALFA NC_000022.11 - 19968169 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)
rs60676269 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2413284239, ss2972986723, ss3019086426, ss3743823312 NC_000022.10:19955691:C:A NC_000022.11:19968168:C:A (self)
237444288, 9739547726, ss2246457351, ss3374062086 NC_000022.11:19968168:C:A NC_000022.11:19968168:C:A (self)
ss77636275 NC_000022.8:18330245:C:T NC_000022.11:19968168:C:T (self)
ss112551520, ss167683268, ss204050466, ss481871428, ss1699291946, ss1713731255, ss3643334862 NC_000022.9:18335691:C:T NC_000022.11:19968168:C:T (self)
80217705, 44382095, 31357191, 5869224, 19773947, 307915, 20826358, 42273859, 11291546, 44382095, 9792554, ss228618167, ss238022319, ss481904209, ss482863210, ss485729919, ss537588105, ss566560814, ss662483776, ss778636016, ss783310655, ss784262781, ss832572102, ss834093680, ss995222844, ss1082570492, ss1366683270, ss1429219799, ss1579704285, ss1639754021, ss1682748054, ss1752413987, ss1809734003, ss1938784436, ss1959965725, ss1969246884, ss2030165239, ss2158775192, ss2413284240, ss2633862793, ss2710952876, ss2972986723, ss2985233281, ss2985850735, ss3019086425, ss3022171913, ss3352776511, ss3628506034, ss3631815180, ss3633268871, ss3633984262, ss3634860960, ss3635668898, ss3636556594, ss3637421092, ss3638374454, ss3640568261, ss3641136368, ss3641432753, ss3652633466, ss3654001345, ss3685618943, ss3743823311, ss3745160791, ss3759230971, ss3772656774, ss3835927820, ss3841592414, ss3890256879, ss3984758334, ss5237615151 NC_000022.10:19955691:C:T NC_000022.11:19968168:C:T (self)
2227956, 1303754, 237444288, 380218321, 9739547726, ss2246457351, ss3028920335, ss3374062087, ss3707955035, ss3725957505, ss3772082285, ss3822398859, ss3847107074, ss5105109374 NC_000022.11:19968168:C:T NC_000022.11:19968168:C:T (self)
ss12673790, ss66469233, ss69277071, ss75231894, ss76274777, ss82569019, ss160978193, ss173071302, ss174814861, ss244314186 NT_011519.10:3107841:C:T NC_000022.11:19968168:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

30 citations for rs9332377
PMID Title Author Year Journal
18436194 Catechol-O-methyltransferase contributes to genetic susceptibility shared among anxiety spectrum phenotypes. Hettema JM et al. 2008 Biological psychiatry
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
19015200 Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer. Freedman ND et al. 2009 Carcinogenesis
19898482 Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. Ross CJ et al. 2009 Nature genetics
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
20551675 Localizing putative markers in genetic association studies by incorporating linkage disequilibrium into bayesian hierarchical models. Fridley BL et al. 2010 Human heredity
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
20979063
21302343 The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects. Rizzi TS et al. 2011 American journal of medical genetics. Part B, Neuropsychiatric genetics
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
21787192 Pharmacogenomics of cisplatin-induced ototoxicity. Mukherjea D et al. 2011 Pharmacogenomics
21980013 Role of genetic susceptibility in development of treatment-related adverse outcomes in cancer survivors. Bhatia S et al. 2011 Cancer epidemiology, biomarkers & prevention
23248619 Chemotherapy refractory testicular germ cell tumor is associated with a variant in Armadillo Repeat gene deleted in Velco-Cardio-Facial syndrome (ARVCF). Fung C et al. 2012 Frontiers in endocrinology
23588304 Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children. Pussegoda K et al. 2013 Clinical pharmacology and therapeutics
23932573 Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort. Kukshal P et al. 2013 Journal of psychiatric research
24795743 Pharmacogenomics and adverse drug reactions in children. Rieder MJ et al. 2014 Frontiers in genetics
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
25452763 Can pharmacogenetics explain efficacy and safety of cisplatin pharmacotherapy? Roco A et al. 2014 Frontiers in genetics
25551397 Influence of genetic variants in TPMT and COMT associated with cisplatin induced hearing loss in patients with cancer: two new cohorts and a meta-analysis reveal significant heterogeneity between cohorts. Hagleitner MM et al. 2014 PloS one
27720787 Associations Between Neurotransmitter Genes and Fatigue and Energy Levels in Women After Breast Cancer Surgery. Eshragh J et al. 2017 Journal of pain and symptom management
28445188 TPMT, COMT and ACYP2 genetic variants in paediatric cancer patients with cisplatin-induced ototoxicity. Thiesen S et al. 2017 Pharmacogenetics and genomics
29350448 Clinical and genetic associations for carboplatin-related ototoxicity in children treated for retinoblastoma: A retrospective noncomparative single-institute experience. Soliman SE et al. 2018 Pediatric blood & cancer
30732962 Predictors of cisplatin-induced ototoxicity and survival in chemoradiation treated head and neck cancer patients. Teft WA et al. 2019 Oral oncology
30790653 Usefulness of COMT gene polymorphisms in North African populations. Boussetta S et al. 2019 Gene
31264537 Polymorphisms in COMT, ADRB2 and HTR1A genes are associated with temporomandibular disorders in individuals with other arthralgias. Bonato LL et al. 2021 Cranio
31285095 Evaluation of genetic risk related to catechol-O-methyltransferase (COMT) and β2-adrenergic receptor (ADRB2) activity in different diagnostic subgroups of temporomandibular disorder in Brazilian patients. de Souza Tesch R et al. 2020 International journal of oral and maxillofacial surgery
32230800 Influence of Genetic Variation in <i>COMT</i> on Cisplatin-Induced Nephrotoxicity in Cancer Patients. Agema BC et al. 2020 Genes
32961632 Is catechol-O-methyltransferase gene associated with temporomandibular disorders? A systematic review and meta-analysis. Brancher JA et al. 2021 International journal of paediatric dentistry
33262486 Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters. 2020 European journal of human genetics
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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