chr22:19942598:A>G Detail (hg38) (COMT)

Information

Genome

Assembly Position
hg19 chr22:19,930,121-19,930,121 View the variant detail on this assembly version.
hg38 chr22:19,942,598-19,942,598

HGVS

Type Transcript Protein
RefSeq NM_000754.3:c.-92+701A>G
Ensemble ENST00000361682.11:c.-92+701A>G
ENST00000403184.5:c.-92+701A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.247
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 tgv65379565 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
0.345 schizophrenia We find that P50 and PPI may be influenced by COMT rs4680 polymorphisms in schiz... BeFree 23598060 Detail
0.345 schizophrenia A common functional polymorphism, Val108/158Met (rs4680), and haplotypes rs73786... BeFree 19329282 Detail
0.012 schizophrenia We find that P50 and PPI may be influenced by COMT rs4680 polymorphisms in schiz... BeFree 23598060 Detail
<0.001 Lymphoma, Follicular ORs for all non-Hodgkin lymphoma and follicular lymphoma among women were decrea... BeFree 16214922 Detail
Annotation

Annotations

DescrptionSourceLinks
We find that P50 and PPI may be influenced by COMT rs4680 polymorphisms in schizophrenia; more excit... DisGeNET Detail
A common functional polymorphism, Val108/158Met (rs4680), and haplotypes rs737865-rs4680-rs165599 in... DisGeNET Detail
We find that P50 and PPI may be influenced by COMT rs4680 polymorphisms in schizophrenia; more excit... DisGeNET Detail
ORs for all non-Hodgkin lymphoma and follicular lymphoma among women were decreased for COMT IVS1 70... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs737865 dbSNP
Genome
hg38
Position
chr22:19,942,598-19,942,598
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))
rs737865
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2471
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4142
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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