Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
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: 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: rs3219476
rs3219476
0.010 GeneticVariation BEFREE MYH rs3219476 and rs3219472 polymorphisms and risk of cholangiocarcinoma. 23138270

2013

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

2013

dbSNP: rs104886003
rs104886003
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: 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: rs2076310
rs2076310
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: 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: rs8004738
rs8004738
0.010 GeneticVariation BEFREE To assess the 'common' Z and S alleles as well as the promoter variant rs8004738 for association with cholangiocarcinoma. 21138453

2011

dbSNP: rs761937143
rs761937143
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: rs3769839
rs3769839
G 0.700 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

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: 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: rs1799782
rs1799782
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: rs25487
rs25487
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: rs25489
rs25489
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: 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: 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