Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929474
rs28929474
0.010 GeneticVariation BEFREE rs28929474 was significantly enriched in the cholangiocarcinoma group (4.1 vs. 1.7%; OR 2.46, 95% CI 1.14-5.32; Bonferroni corrected p(c) = 0.036), reinforced by Armitage trend testing (OR 2.53; p(c) = 0.032). 21138453

2011

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: rs7903146
rs7903146
0.010 GeneticVariation BEFREE rs7903146 C>T polymorphism appeared to modulate the risk of MACE: 5-year prevalence was 0.8% in CC patients, 7.2% in CT patients and 9.7% in TT patients (P<.001). 28299838

2017

dbSNP: rs2266788
rs2266788
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: 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: 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: 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: 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: rs5275
rs5275
0.010 GeneticVariation BEFREE Differentiation of the type 1 EC is significantly and independently influenced by rs5275 polymorphism. rs5275 CC patients have a lower risk to present a G2-G3 EC. 25900875

2015

dbSNP: rs34612342
rs34612342
0.010 GeneticVariation BEFREE DNA from patients with HCC (n=48) or cholangiocarcinoma (n=84) compared to non-cancerous controls (n=308) were genotyped for the Y165C and G382D mutations in MYH. 16292541

2006

dbSNP: rs36053993
rs36053993
0.010 GeneticVariation BEFREE DNA from patients with HCC (n=48) or cholangiocarcinoma (n=84) compared to non-cancerous controls (n=308) were genotyped for the Y165C and G382D mutations in MYH. 16292541

2006

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: rs2106261
rs2106261
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: rs3024270
rs3024270
0.010 GeneticVariation BEFREE Furthermore, decreased risk of invasive bladder cancer was found in carrying rs3024270 CC patients. 29595036

2019

dbSNP: rs3769839
rs3769839
G 0.700 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

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

2018

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: rs763569821
rs763569821
0.010 GeneticVariation BEFREE However, the frequency of primary liver carcinoma (PLC) with biliary differentiation, such as cholangiocarcinoma (CC) and combined hepatocholangiocarcinoma (CHCC), in GH remains unclear We analyzed the histologic type of 20 PLCs occurring in the background of GH; all patients were homozygotic for the C282Y mutation. 11710692

2001

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

2016

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 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: 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: 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: rs3219476
rs3219476
0.010 GeneticVariation BEFREE MYH rs3219476 and rs3219472 polymorphisms and risk of cholangiocarcinoma. 23138270

2013