Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.030 GeneticVariation BEFREE Their frequent BRAF V600E mutations support their neoplastic nature, but not necessarily their progression to ICC. 27627051

2017

dbSNP: rs121913377
rs121913377
0.030 GeneticVariation BEFREE Their frequent BRAF V600E mutations support their neoplastic nature, but not necessarily their progression to ICC. 27627051

2017

dbSNP: rs113488022
rs113488022
0.030 GeneticVariation BEFREE They also support the hypothesis that mutated BDA might precede the development of the subset of intrahepatic cholangiocarcinomas harbouring BRAF V600E mutations. 25704541

2015

dbSNP: rs121913377
rs121913377
0.030 GeneticVariation BEFREE They also support the hypothesis that mutated BDA might precede the development of the subset of intrahepatic cholangiocarcinomas harbouring BRAF V600E mutations. 25704541

2015

dbSNP: rs113488022
rs113488022
0.030 GeneticVariation BEFREE In conclusion, we demonstrate that BRAF V600E</span> mutation is a rare event in biliary tract cancer, accounting for only 1% of all subtypes, and is restricted to intrahepatic cholangiocarcinoma. 24309328

2014

dbSNP: rs121913377
rs121913377
0.030 GeneticVariation BEFREE In conclusion, we demonstrate that BRAF V600E</span> mutation is a rare event in biliary tract cancer, accounting for only 1% of all subtypes, and is restricted to intrahepatic cholangiocarcinoma. 24309328

2014

dbSNP: rs397507444
rs397507444
0.020 GeneticVariation BEFREE This study suggests that the A1298C-MTHFR polymorphism contributes to the genetic risk for both CIN and ICC, whereas the Arg72Pro-p53 polymorphism only contributes to the risk for CIN. 24474455

2014

dbSNP: rs397507444
rs397507444
0.020 GeneticVariation BEFREE Interestingly, women with the MTHFR A1298C polymorphisms had a marginally increased susceptibility to invasive cancer (ICC) when compared with no carriers but no statistically significant difference in the dominant model (P = 0.06, OR = 1.21, 95% CI = 0.99-1.49) and AC vs. AA (P = 0.09, OR = 1.21, 95% CI = 0.97-1.51). 23285018

2012

dbSNP: rs1406835103
rs1406835103
0.010 GeneticVariation BEFREE Recently, we proposed type 1/2 (large/small duct types) classification of ICC based on mucin productivity and immunophenotypes (S100P, N-cadherin, and NCAM). 30349952

2019

dbSNP: rs768617095
rs768617095
0.010 GeneticVariation BEFREE In this study, tissue expression of BAP-1, PBRM-1, S100P, and miR-31 was investigated in ICC and correlated with clinical-pathological features. 30377796

2019

dbSNP: rs121913530
rs121913530
0.010 GeneticVariation BEFREE Molecular studies showed one mucinous iCC with KRAS G12C mutation and no BRAF or IDH1/2 mutations. 29698701

2018

dbSNP: rs183606230
rs183606230
0.010 GeneticVariation BEFREE The combined evaluation of histology of CD and protein expression status of CRP, CDH2, TFF1 and S100P might help subtyping and predicting clinical outcomes of iCCA. 28608943

2018

dbSNP: rs368054556
rs368054556
0.010 GeneticVariation BEFREE MYST3 mutation at Q1388H detected in intrahepatic cholangiocarcinoma is reported for the first time. 29559246

2018

dbSNP: rs754332870
rs754332870
0.010 GeneticVariation BEFREE Molecular studies showed one mucinous iCC with KRAS G12C mutation and no BRAF or IDH1/2 mutations. 29698701

2018

dbSNP: rs121913499
rs121913499
0.010 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: rs121913500
rs121913500
0.010 GeneticVariation BEFREE Immunohistochemistry using monoclonal antibody MsMab-2 is useful to detect IDH1 R132L in intrahepatic cholangiocarcinoma. 27595804

2016

dbSNP: rs2257205
rs2257205
0.010 GeneticVariation BEFREE RNF43 reduced expression in ICC, and the reduction of RNF43 messenger RNA expression was significantly correlated with the presence of rs2257205 and RNF43 somatic mutations, confirming that all RNF43 somatic mutations in ICC are inactivating. 26980022

2016

dbSNP: rs1042522
rs1042522
0.010 GeneticVariation BEFREE We performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women. 24474455

2014

dbSNP: rs1131691014
rs1131691014
0.010 GeneticVariation BEFREE We performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women. 24474455

2014

dbSNP: rs1217691063
rs1217691063
0.010 GeneticVariation BEFREE We performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women. 24474455

2014

dbSNP: rs878854066
rs878854066
0.010 GeneticVariation BEFREE We performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women. 24474455

2014

dbSNP: rs879253942
rs879253942
0.010 GeneticVariation BEFREE We performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women. 24474455

2014

dbSNP: rs762846821
rs762846821
0.010 GeneticVariation BEFREE Tissue-specific activation of Kras(G12D) alone resulted in the development of invasive IHCC with low penetrance and long latency. 22266220

2012

dbSNP: rs758272654
rs758272654
0.010 GeneticVariation BEFREE GNAS1 T393C is a novel independent host factor for disease progression in patients with ICC. 17356712

2007