chr12:111774029:T>C Detail (hg38) (ALDH2)

Information

Genome

Assembly Position
hg19 chr12:112,211,833-112,211,833 View the variant detail on this assembly version.
hg38 chr12:111,774,029-111,774,029

HGVS

Type Transcript Protein
RefSeq NM_000690.3:c.114+6933T>C
NM_001204889.1:c.114+6933T>C
Ensemble ENST00000261733.7:c.114+6933T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.920
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 100650 OMIM
HGNC 404 HGNC
Ensembl ENSG00000111275 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47263267 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
0.001 Squamous cell carcinoma of the head and neck Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95... BeFree 21940907 Detail
0.002 Squamous cell carcinoma of the head and neck Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95... BeFree 21940907 Detail
0.121 Cerebrovascular accident Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE colla... GWASCAT 23041239 Detail
Annotation

Annotations

DescrptionSourceLinks
Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95% CI, 0.6-0.9) and A... DisGeNET Detail
Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95% CI, 0.6-0.9) and A... DisGeNET Detail
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-an... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2238151 dbSNP
Genome
hg38
Position
chr12:111,774,029-111,774,029
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2238151
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.92
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15419
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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