Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3769839
rs3769839
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
G 0.700 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

dbSNP: rs7731017
rs7731017
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
G 0.700 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

dbSNP: rs12979860
rs12979860
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs12979860
rs12979860
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs1003723
rs1003723
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs1045642
rs1045642
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs104886003
rs104886003
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs1126579
rs1126579
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs113488022
rs113488022
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 GeneticVariation BEFREE BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings. 31221175

2019

dbSNP: rs11635252
rs11635252
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs11887534
rs11887534
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs1194919682
rs1194919682
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs1217691063
rs1217691063
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 GeneticVariation BEFREE Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population. 17201138

2007

dbSNP: rs121913377
rs121913377
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 GeneticVariation BEFREE BRAF inhibitors showed activity in BRAF V600E mutated cholangiocarcinomas and pancreatic carcinomas in non-first line settings. 31221175

2019

dbSNP: rs17851045
rs17851045
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs1799782
rs1799782
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 GeneticVariation BEFREE We genotyped five non-synonymous single-nucleotide polymorphisms of three genes, including the human homolog of the 8-oxoguanine glycosylase 1 Ser326Cys, X-ray repair cross-complementing protein 1 Arg194Trp, Arg280His and Arg399Gln and poly (adenosine diphosphate ribose) polymerase 1 Val762Ala in 87-94 matched case-control pairs, and examined relations between those polymorphisms and the risk of cholangiocarcinoma. 24049014

2013

dbSNP: rs2072671
rs2072671
CDA
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs2076310
rs2076310
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 GeneticVariation BEFREE Relative to individuals with the RXR-beta C51T (rs2076310) CC genotype, those having the TT genotype had a 1.6-fold risk for bile duct cancer [odds ratio (OR) = 1.67; 95% confidence interval (CI) = 0.99-2.84], with a more pronounced association among men (OR = 2.30; 95% CI = 1.14-4.65; P interaction = 0.07). 18375961

2008

dbSNP: rs2106261
rs2106261
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 GeneticVariation BEFREE Further, neutrophil/lymphocyte (N/L) ratio, C-reactive protein (CRP), and interleukin-6 (IL-6) expression levels were lower in PAF patients with the ZFHX3 SNP rs2106261 minor allele (TT+TC) than in CC patients (N/L ratio: CC 2.22 ± 0.08, TT+TC 1.98 ± 0.06, p = 0.018; CRP: CC 0.103 ± 0.009 mg/dl, TT+TC 0.076 ±0.007 mg/dl, p = 0.016; IL-6: CC 60.3 ± 3.0 pg/ml, TT+TC 52.8 ± 2.3 pg/ml, p = 0.04). 30180182

2018

dbSNP: rs2230054
rs2230054
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
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: rs2266788
rs2266788
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 GeneticVariation BEFREE Also, homozygous risk allele of rs2266788 (CC) significantly associated with risk of MI and UA in patients of chronic stable angina (CSA) patients. 29309886

2018

dbSNP: rs2287622
rs2287622
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 GeneticVariation BEFREE There was a trend towards significant association of V444A with CC. 21691113

2011

dbSNP: rs2289278
rs2289278
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 GeneticVariation BEFREE In children sensitized to certain allergens, a genetic predisposition (rs2289278 genotype CC) significantly increased the risk of AD. 26712523

2016