chr22:19957654:A>G Detail (hg38) (COMT)

Information

Genome

Assembly Position
hg19 chr22:19,945,177-19,945,177 View the variant detail on this assembly version.
hg38 chr22:19,957,654-19,957,654

HGVS

Type Transcript Protein
RefSeq NM_000754.3:c.-91-3545A>G
NM_001135162.1:c.-91-3545A>G
Ensemble ENST00000361682.11:c.-91-3545A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.371
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 tgv65380042 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
0.178 attention deficit hyperactivity disorder We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs... BeFree 24163823 Detail
Annotation

Annotations

DescrptionSourceLinks
We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs1800496, rs1801028, ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs740603 dbSNP
Genome
hg38
Position
chr22:19,957,654-19,957,654
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))
rs740603
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3715
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6226
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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