chr22:19953832:A>G Detail (hg19) (COMT)

Information

Genome

Assembly Position
hg19 chr22:19,953,832-19,953,832
hg38 chr22:19,966,309-19,966,309 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000754.3:c.615+2010A>G
NM_001135162.1:c.615+2010A>G
NM_007310.2:c.465+2010A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.612
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 116790 OMIM
HGNC 2228 HGNC
Ensembl ENSG00000093010 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65380495 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.011 Unipolar Depression In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.040 major depressive disorder In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.038 Mental Depression In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.009 depressive disorder In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.016 major depressive disorder In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.008 Unipolar Depression In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.005 Unipolar Depression In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.014 major depressive disorder In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
Annotation

Annotations

DescrptionSourceLinks
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs174697 dbSNP
Genome
hg19
Position
chr22:19,953,832-19,953,832
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs174697
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6123
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10261
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
Genome browser