Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs889312
rs889312
0.010 GeneticVariation BEFREE Stratification analysis showed that MAP3K1 rs889312 AC/CC significantly reduced OS of patients with tumors smaller than or equal to 5 cm in size (HR, 3.706; 95% CI: 1.329-10.335, <i>p</i>=0.012), poorly differentiated tumors (HR, 3.002; 95% CI: 1.076-8.377, <i>p</i>=0.036) and intestinal tumors (HR, 4.780; 95% CI: 1.138-20.073, <i>p</i>=0.033). 31686841

2019

dbSNP: rs1045642
rs1045642
0.010 GeneticVariation BEFREE C3435T genotype was an independent predictive factor of good response in breast (response >50 %, i.e., Sataloff T-A and T-B): OR: 4.6 (95 % CI: 1.3-16.1), p = 0.015, for TT patients versus CT and CC patients. 23666532

2013

dbSNP: rs2287622
rs2287622
0.010 GeneticVariation BEFREE There was a trend towards significant association of V444A with CC. 21691113

2011

dbSNP: rs3740066
rs3740066
0.010 GeneticVariation BEFREE We describe a novel association between the common ABCC2 variant c.3972C>T and cholangiocarcinoma risk. 19451719

2009

dbSNP: rs11887534
rs11887534
0.010 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971

2011

dbSNP: rs3197999
rs3197999
0.010 GeneticVariation BEFREE Here, we assessed the primary sclerosing cholangitis-associated variant rs3197999 in the MST1 gene, coding for RON receptor tyrosine kinase ligand macrophage stimulating protein, in a large European cholangiocarcinoma cohort. 23422030

2013

dbSNP: rs113488022
rs113488022
0.010 GeneticVariation BEFREE BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings. 31221175

2019

dbSNP: rs121913377
rs121913377
0.010 GeneticVariation BEFREE BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings. 31221175

2019

dbSNP: rs4938723
rs4938723
0.010 GeneticVariation BEFREE MiR-34b/c rs4938723 was associated with ESCC TNM staging, differentiation degree, and lymph node metastasis (LNM) for ES CC patients (all P < 0.05). 29270777

2019

dbSNP: rs2072671
rs2072671
CDA
0.010 GeneticVariation BEFREE For CDA rs2072671 (A>C), AC and CC patients had a lower risk of neutropenia than AA patients (P=0.01, hazard ratio: 0.61, 95% confidence interval: 0.41-0.89). 30889042

2019

dbSNP: rs11635252
rs11635252
0.010 GeneticVariation BEFREE Significant decrease was identified in the total cholesterol (TC), triglyceride (TG), and weight in those with CC phenotype compared with those with CT phenotype among the cases with rs11635252 (P < .05).CRTC3 polymorphism was associated with the onset of acute coronary syndrome in Han Chinese patients, which may be related to the imbalance of the lipid metabolism. 29979427

2018

dbSNP: rs1126579
rs1126579
0.010 GeneticVariation BEFREE Of the 10 genes with multiple SNPs from which we inferred haplotypes, only one IL8RB haplotype, consisting of 3 SNPs (rs2230054, rs1126579, and rs1126580), was associated with the risk of bile duct cancer (P = 0.003) and biliary stones (P = 0.02), relative to the most frequent haplotype. 18676870

2008

dbSNP: rs1126580
rs1126580
0.010 GeneticVariation BEFREE Of the 10 genes with multiple SNPs from which we inferred haplotypes, only one IL8RB haplotype, consisting of 3 SNPs (rs2230054, rs1126579, and rs1126580), was associated with the risk of bile duct cancer (P = 0.003) and biliary stones (P = 0.02), relative to the most frequent haplotype. 18676870

2008

dbSNP: rs2230054
rs2230054
0.010 GeneticVariation BEFREE Of the 10 genes with multiple SNPs from which we inferred haplotypes, only one IL8RB haplotype, consisting of 3 SNPs (rs2230054, rs1126579, and rs1126580), was associated with the risk of bile duct cancer (P = 0.003) and biliary stones (P = 0.02), relative to the most frequent haplotype. 18676870

2008

dbSNP: rs1194919682
rs1194919682
0.010 GeneticVariation BEFREE Transforming growth factor beta (TGF-β) mRNA expression was assessed according to T869C polymorphism and CC patients presented a higher TGF-β expression but not significant when compared to other genotypes (p = 0.064). 22941282

2012

dbSNP: rs7731017
rs7731017
G 0.700 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

dbSNP: rs4986938
rs4986938
0.010 GeneticVariation BEFREE Also, the ESR2 rs4986938 (38 bp 3' of STP) GG genotype was associated with a higher risk of bile duct cancer (OR = 3.3, 95% CI 1.3-8.7) compared with the AA genotype, although this estimate was based on a small number of subjects. 20172949

2010

dbSNP: rs9679162
rs9679162
0.010 GeneticVariation BEFREE In conclusion, the G<i>ALNT14</i>-rs9679162 'TT' genotype was associated with perineural invasion and lymph node metastasis, as well as unfavorable overall survival in patients with resected cholangiocarcinoma. 28588705

2017

dbSNP: rs12979860
rs12979860
0.020 GeneticVariation BEFREE Cirrhosis and rapid virological response to peginterferon plus ribavirin determine treatment outcome in HCV-1 IL28B rs12979860 CC patients. 23936821

2013

dbSNP: rs12979860
rs12979860
0.020 GeneticVariation BEFREE Levels of ISGs and IFNL2/3 mRNAs were lower in IFNL3 rs12979860 CC patients compared with non-CC patients, and in treatment responders, compared with nonresponders. 26020282

2016

dbSNP: rs17851045
rs17851045
0.010 GeneticVariation BEFREE Next-generation sequencing detected mutations at p.Q61H (c.183A>C) of KRAS and p.E545K (c.1633G>A) of PIK3CA, keeping in line with similarity to conventional cholangiocarcinoma. 30591492

2019

dbSNP: rs17851045
rs17851045
0.010 GeneticVariation BEFREE Next-generation sequencing detected mutations at p.Q61H (c.183A>C) of KRAS and p.E545K (c.1633G>A) of PIK3CA, keeping in line with similarity to conventional cholangiocarcinoma. 30591492

2019

dbSNP: rs1003723
rs1003723
0.010 GeneticVariation BEFREE Male and female carriers of the T allele of LDLR IVS9-30C>T (rs1003723) had a 1.5-fold risk of bile duct cancer. 18296645

2008

dbSNP: rs2910164
rs2910164
0.010 GeneticVariation BEFREE We investigated rs2910164 in a large European-based cholangiocarcinoma (CCA) cohort. 22893469

2012

dbSNP: rs3024270
rs3024270
0.010 GeneticVariation BEFREE Furthermore, decreased risk of invasive bladder cancer was found in carrying rs3024270 CC patients. 29595036

2019