chr4:100263965:C>T Detail (hg19) (ADH1C)

Information

Genome

Assembly Position
hg19 chr4:100,263,965-100,263,965
hg38 chr4:99,342,808-99,342,808 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000669.4:c.815G>A NP_000660.1:p.Arg272Gln
NR_133005.1:c.815G>A
Ensemble ENST00000515683.6:c.815G>A ENST00000515683.6:p.Arg272Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.042
ToMMo:0.061
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.076

Prediction

ClinVar

Clinical Significance protective
Review star
Show details
Links
Type Database ID Link
Gene MIM 103730 OMIM
HGNC 251 HGNC
Ensembl ENSG00000248144 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv18017478 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2008-06-01 no assertion criteria provided alcohol dependence germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Liver diseases The aim of this study was to analyze the combined effect of the most frequent al... BeFree 22048268 Detail
<0.001 pancreatic carcinoma The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
<0.001 Malignant neoplasm of pancreas The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
<0.001 Impaired glucose tolerance The ADH1c (rs1693482) fast metabolizing CC genotype was associated with an incre... BeFree 20700531 Detail
0.003 Malignant neoplasm of pancreas The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
<0.001 pancreatic carcinoma The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
<0.001 Malignant neoplasm of pancreas The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
<0.001 Diabetes The ADH1c (rs1693482) fast metabolizing CC genotype was associated with an incre... BeFree 20700531 Detail
0.003 diabetes mellitus The ADH1c (rs1693482) fast metabolizing CC genotype was associated with an incre... BeFree 20700531 Detail
0.019 Malignant neoplasm of breast Interaction between ADH1C Arg(272)Gln and alcohol intake in relation to breast c... BeFree 20350778 Detail
0.002 breast carcinoma Interaction between ADH1C Arg(272)Gln and alcohol intake in relation to breast c... BeFree 20350778 Detail
0.001 pancreatic carcinoma The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu5... BeFree 19068087 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000669.5(ADH1C):c.815G>A (p.Arg272Gln) AND Alcohol dependence ClinVar Detail
The aim of this study was to analyze the combined effect of the most frequent alcohol dehydrogenase ... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... DisGeNET Detail
The ADH1c (rs1693482) fast metabolizing CC genotype was associated with an increased risk of impaire... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... DisGeNET Detail
The ADH1c (rs1693482) fast metabolizing CC genotype was associated with an increased risk of impaire... DisGeNET Detail
The ADH1c (rs1693482) fast metabolizing CC genotype was associated with an increased risk of impaire... DisGeNET Detail
Interaction between ADH1C Arg(272)Gln and alcohol intake in relation to breast cancer risk suggests ... DisGeNET Detail
Interaction between ADH1C Arg(272)Gln and alcohol intake in relation to breast cancer risk suggests ... DisGeNET Detail
The impact of alcohol and polymorphisms in aldehyde dehydrogenase 2 (ALDH2) Glu504Lys, alcohol dehyd... 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
rs1693482 dbSNP
Genome
hg19
Position
chr4:100,263,965-100,263,965
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
768
Mean of sample read depth (HGVD)
23.65
Standard deviation of sample read depth (HGVD)
76.76
Number of reference allele (HGVD)
1471
Number of alternative allele (HGVD)
65
Allele Frequency (HGVD)
0.042317708333333336
Gene Symbol (HGVD)
ADH1C
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))
rs1693482
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0611
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1024
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
656
East Asian Heterozygous Counts (ExAC)
606
East Asian Homozygous Counts (ExAC)
25
East Asian Allele Frequency (ExAC)
0.07580309683383407
Chromosome Counts in All Race (ExAC)
121384
Allele Counts in All Race (ExAC)
41570
Heterozygous Counts in All Race (ExAC)
25484
Homozygous Counts in All Race (ExAC)
8043
Allele Frequency in All Race (ExAC)
0.34246688196137876
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