chr4:99307860:G>A Detail (hg38) (ADH1B)

Information

Genome

Assembly Position
hg19 chr4:100,229,017-100,229,017 View the variant detail on this assembly version.
hg38 chr4:99,307,860-99,307,860

HGVS

Type Transcript Protein
RefSeq NM_000668.5:c.1108C>T NP_000659.2:p.Arg370Cys
NM_001286650.1:c.988C>T NP_001273579.1:p.Arg330Cys
Ensemble ENST00000305046.13:c.1108C>T ENST00000305046.13:p.Arg370Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance protective
Review star
Show details
Links
Type Database ID Link
Gene MIM 103720 OMIM
HGNC 250 HGNC
Ensembl ENSG00000196616 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv328520815 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2007-01-01 no assertion criteria provided alcohol dependence germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.347 Alcoholic Intoxication, Chronic We tested the most significant ADH1B single nucleotide polymorphisms for alcohol... BeFree 25410943 Detail
<0.001 Withdrawal Symptoms No evidence for association with the alcohol dependence diagnosis was observed, ... BeFree 21635275 Detail
<0.001 Withdrawal Symptoms No evidence for association with the alcohol dependence diagnosis was observed, ... BeFree 21635275 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000668.6(ADH1B):c.1108C>T (p.Arg370Cys) AND Alcohol dependence ClinVar Detail
We tested the most significant ADH1B single nucleotide polymorphisms for alcohol dependence from a g... DisGeNET Detail
No evidence for association with the alcohol dependence diagnosis was observed, but an SNP in exon 9... DisGeNET Detail
No evidence for association with the alcohol dependence diagnosis was observed, but an SNP in exon 9... 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
rs2066702 dbSNP
Genome
hg38
Position
chr4:99,307,860-99,307,860
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1560693641618497E-4
Chromosome Counts in All Race (ExAC)
121322
Allele Counts in All Race (ExAC)
2203
Heterozygous Counts in All Race (ExAC)
1831
Homozygous Counts in All Race (ExAC)
186
Allele Frequency in All Race (ExAC)
0.01815828951055868
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