chr22:19968169:C>T Detail (hg38) (COMT)

Information

Genome

Assembly Position
hg19 chr22:19,955,692-19,955,692 View the variant detail on this assembly version.
hg38 chr22:19,968,169-19,968,169

HGVS

Type Transcript Protein
RefSeq NM_000754.3:c.616-367C>T
NM_001135162.1:c.616-367C>T
NM_007310.2:c.466-367C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[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 tgv411270431 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
0.133 nicotine dependence In pairwise interaction analysis of SNPs from the two loci (COMT SNP-CHRNA5-CHRN... BeFree 21312287 Detail
0.020 nicotine dependence In pairwise interaction analysis of SNPs from the two loci (COMT SNP-CHRNA5-CHRN... BeFree 21312287 Detail
Annotation

Annotations

DescrptionSourceLinks
In pairwise interaction analysis of SNPs from the two loci (COMT SNP-CHRNA5-CHRNA3 SNP), the interac... DisGeNET Detail
In pairwise interaction analysis of SNPs from the two loci (COMT SNP-CHRNA5-CHRNA3 SNP), the interac... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9332377 dbSNP
Genome
hg38
Position
chr22:19,968,169-19,968,169
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser