IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Disease: Liver carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913499
rs121913499
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C2239176
Disease:
Liver carcinoma 		0.710 GeneticVariation BEFREE Three cases in iCC (6.5%) and five cases in HCC (10.4%) had IDH1 mutation, all of which were Arg132Cys. 28403884 2017
dbSNP: rs121913499
rs121913499
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C2239176
Disease:
Liver carcinoma 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913499
rs121913499
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C2239176
Disease:
Liver carcinoma 		C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913499
rs121913499
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C2239176
Disease:
Liver carcinoma 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C2239176
Disease:
Liver carcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C2239176
Disease:
Liver carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs12478635
rs12478635
Entrez Id: 3417;100507475
Gene Symbol: IDH1;IDH1-AS1
IDH1;IDH1-AS1
CUI: C2239176
Disease:
Liver carcinoma 		0.010 GeneticVariation BEFREE We found that SNPs rs12478635 in IDH1 and rs11632348 in IDH2 gene exhibited significant associations with death risk in HCC patients in the dominant model (HR 1.33; 95 % CI 1.02-1.73; P = 0.037) and in recessive model (HR 1.87; 95 % CI 1.27-2.75; P = 0.001), respectively. 25355558 2014