Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 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: 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: rs3024270
rs3024270
0.010 GeneticVariation BEFREE Furthermore, decreased risk of invasive bladder cancer was found in carrying rs3024270 CC patients. 29595036

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: 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: 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: 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: 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

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: 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: 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: 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: 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: 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