chr4:99339632:T>C Detail (hg38) (ADH1C)

Information

Genome

Assembly Position
hg19 chr4:100,260,789-100,260,789 View the variant detail on this assembly version.
hg38 chr4:99,339,632-99,339,632

HGVS

Type Transcript Protein
RefSeq NM_000669.4:c.1048A>G NP_000660.1:p.Ile350Val
NR_133005.1:c.1048A>G
Ensemble ENST00000515683.6:c.1048A>G ENST00000515683.6:p.Ile350Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.052
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 tgv18017334 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 Malignant neoplasm of stomach No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1... BeFree 25524923 Detail
0.013 Cancer of Head and Neck An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... BeFree 22500060 Detail
0.001 Alcohol abuse Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... BeFree 21917409 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.133 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.004 Cancer of Head and Neck An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... BeFree 22500060 Detail
0.026 Alcohol abuse Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... BeFree 21917409 Detail
0.007 Cancer of Head and Neck An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... BeFree 22500060 Detail
0.003 Malignant neoplasm of pancreas Based on the assumption that genetic variation in carcinogen metabolism further ... BeFree 19812523 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.033 Cancer of Head and Neck An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... BeFree 22500060 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.028 Alcohol abuse Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... BeFree 21917409 Detail
<0.001 pancreatic carcinoma Based on the assumption that genetic variation in carcinogen metabolism further ... BeFree 19812523 Detail
0.013 Alcohol abuse Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... BeFree 21917409 Detail
<0.001 Cancer of Head and Neck An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... BeFree 22500060 Detail
0.020 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
<0.001 nicotine dependence We investigated six variants known to influence nicotine addiction or alcohol me... BeFree 24505444 Detail
0.004 Liver diseases The aim of this study was to analyze the combined effect of the most frequent al... BeFree 22048268 Detail
0.002 stomach carcinoma No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1... BeFree 25524923 Detail
<0.001 Drug abuse The results showed strong evidence of association between ADH1C Ile350Val (rs698... BeFree 22476623 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000669.5(ADH1C):c.1048A>G (p.Ile350Val) AND Alcohol dependence ClinVar Detail
No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1C (rs698) and ALDH2 ... DisGeNET Detail
An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... DisGeNET Detail
Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... DisGeNET Detail
Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... DisGeNET Detail
An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... DisGeNET Detail
Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... DisGeNET Detail
Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of... DisGeNET Detail
Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... DisGeNET Detail
An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... DisGeNET Detail
The aim of this study was to analyze the combined effect of the most frequent alcohol dehydrogenase ... DisGeNET Detail
No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1C (rs698) and ALDH2 ... DisGeNET Detail
The results showed strong evidence of association between ADH1C Ile350Val (rs698, formerly ADH1C *1/... 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
rs698 dbSNP
Genome
hg38
Position
chr4:99,339,632-99,339,632
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
136.34
Standard deviation of sample read depth (HGVD)
55.93
Number of reference allele (HGVD)
2294
Number of alternative allele (HGVD)
126
Allele Frequency (HGVD)
0.05206611570247934
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))
rs698
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0609
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1020
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
659
East Asian Heterozygous Counts (ExAC)
607
East Asian Homozygous Counts (ExAC)
26
East Asian Allele Frequency (ExAC)
0.07634383688600556
Chromosome Counts in All Race (ExAC)
120668
Allele Counts in All Race (ExAC)
41557
Heterozygous Counts in All Race (ExAC)
25451
Homozygous Counts in All Race (ExAC)
8053
Allele Frequency in All Race (ExAC)
0.3443912221964398
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