Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745501336
rs745501336
Entrez Id: 339122;100534599
Gene Symbol: RAB43;ISY1-RAB43
RAB43;ISY1-RAB43
CUI: C0220630
Disease:
Adult Liver Carcinoma
0.010 GeneticVariation BEFREE Sanger DNA sequencing confirmed a mutation (c: 128810106C > T, p: A158T) occurred in one allele of Rab43 gene from the proband, that heterozygous mutation also was verified in the genome of the proband's deceased father with liver cancer, but not in his healthy mother and sister. 31226964 2019
dbSNP: rs745501336
rs745501336
Entrez Id: 339122;100534599
Gene Symbol: RAB43;ISY1-RAB43
RAB43;ISY1-RAB43
CUI: C0279000
Disease:
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 GeneticVariation BEFREE Sanger DNA sequencing confirmed a mutation (c: 128810106C > T, p: A158T) occurred in one allele of Rab43 gene from the proband, that heterozygous mutation also was verified in the genome of the proband's deceased father with liver cancer, but not in his healthy mother and sister. 31226964 2019
dbSNP: rs745501336
rs745501336
Entrez Id: 339122;100534599
Gene Symbol: RAB43;ISY1-RAB43
RAB43;ISY1-RAB43
CUI: C0345904
Disease:
Malignant neoplasm of liver
0.010 GeneticVariation BEFREE Sanger DNA sequencing confirmed a mutation (c: 128810106C > T, p: A158T) occurred in one allele of Rab43 gene from the proband, that heterozygous mutation also was verified in the genome of the proband's deceased father with liver cancer, but not in his healthy mother and sister. 31226964 2019