Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1001179
rs1001179
CAT
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE This study aimed to investigate the association of genetic polymorphisms of CAT C-262T (rs1001179) and GPX1 Pro198Leu (rs1050450) with different stages of liver fibrosis and development of hepatocellular carcinoma (HCC). 26990426

2016

dbSNP: rs10012
rs10012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE In overall analysis, we found that only the variant G allele of rs1056836 was associated with a significantly increased risk of HCC among the three SNPs (rs10012, rs1056836 and rs1800440). 25796598

2015

dbSNP: rs10036748
rs10036748
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE Overall, we found two risk alleles in TNIP1 for HBV-induced HCC in patients: the allele "G" of rs7708392 by genotype model ("G/C" vs. "C/C": OR 1.88, 95% CI 1.17-3, P = 0.009) and dominant model ("G/C-G/G" vs. "C/C": OR 1.69, 95% CI 1.08-2.65, P = 0.023), and the allele "C" of rs10036748 by genotype model ("C/T" vs. "T/T": OR 1.83, 95% CI 1.14-2.92, P = 0.012) and dominant model ("C/T-C/C" vs. "T/T": OR 1.65, 95% CI 1.05-2.59, P = 0.03). 30073579

2019

dbSNP: rs10052999
rs10052999
C6
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE Recipient C6 gene rs9200 polymorphism and donor C6 gene rs10052999 polymorphism are new genetic loci that affect tacrolimus metabolism in patients with HCC after OLT. 28685716

2017

dbSNP: rs10053538
rs10053538
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE This study simultaneously examined PD-1 and TIM-3 expression in liver tissues and PD1 and TIM3 polymorphisms and analyzed their correlations in 171 patients with HBV-related HCC and 34 patients with HBV-related cirrhosis.PD-1 and TIM-3 expression in liver tissues were examined by immunohistochemistry and the genotypes of PD1 rs10204525 and TIM3 rs10053538 polymorphisms were determined using genomic DNA extracted from peripheral blood as template.Both PD-1 and TIM-3 expressions in liver infiltrating lymphocytes of HCC tumor tissues were significantly higher than those in tumor adjacent tissues or cirrhotic tissues. 28033288

2016

dbSNP: rs1010273
rs1010273
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE Multivariate analysis showed that PRDM1 rs1010273 polymorphism was an independent factor associated with the overall survival of patients with HCC (odds ratio, 0.529; 95% confidence interval, 0.126-0.862; p =  0.002). 31376415

2019

dbSNP: rs10116253
rs10116253
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE However, The peak of risk of HCC was observed with allele C of rs3804099 of TLR2 and C allele of rs10116253 TLR4 (<i>p</i> < 0.001).A strong association was found with allele T of rs1816702 of TLR2 and allele A of rs5030728 of TLR4 in non responder group in comparison to responders (<i>p</i> < 0.001). 31615295

2019

dbSNP: rs1012068
rs1012068
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.760 GeneticVariation BEFREE Rs423058 upstream of PAPL, rs2834167 in IL10RB and rs1012068 in DEPDC5 were associated with chronic HBV status, HBV natural clearance and the presence of HCC (P = 0.0004–0.024), respectively. 25032264

2014

dbSNP: rs1012068
rs1012068
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.760 GeneticVariation BEFREE Recently, two GWAS variants, MICA rs2596542 and DEPDC5 rs1012068 were identified as being associated with the development of HCV-induced hepatocellular carcinoma (HCC) in Japanese patients. 30723271

2019

dbSNP: rs1012068
rs1012068
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.760 GeneticVariation BEFREE Recently, the MICA rs2596542 and DEPDC5 rs1012068 variants in Japanese individuals as well as the HCP5 rs2244546 and PNPLA3 rs738409 variants in European individuals have been found associated with hepatocellular carcinoma (HCC). 28928439

2017

dbSNP: rs1012068
rs1012068
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.760 GeneticVariation BEFREE There was a significant correlation between DEPDC5 rs1012068A/C and HBV-related HCC in the Han Chinese population. 30683632

2019

dbSNP: rs1012068
rs1012068
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.760 GeneticVariation BEFREE In a Northern Italian discovery cohort (n = 477), neither DEPDC5 rs1012068 nor MICA rs2596542 were associated with HCC (n = 150). 26517016

2016

dbSNP: rs1012068
rs1012068
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.760 GeneticVariation BEFREE The data also revealed that subjects with the T allele of both SNPs appeared to have a lower susceptibility to HCV-related cirrhosis/HCC than those with the G allele of rs1012068 (p = 0.038, OR = 1.353, 95 % CI 1.017-1.800) and C allele of rs5998152 (p = 0.043, OR = 1.342, 95 % CI 1.010-1.784). 25551790

2014

dbSNP: rs1012068
rs1012068
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.760 GeneticVariation BEFREE After controlling for the influence of sex, smoking and drinking, this study showed a significant relationship between the polymorphism of DEPDC5 rs1012068 and HBV-related HCC. 30683632

2019

dbSNP: rs1012335
rs1012335
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE The C allele at both loci was a susceptibility allele for ACLF-HBV and HCC, with the highest ORs reaching 1.653 (95% CI = 1.233, 2.216; p < 0.01 at rs1012335) in the ACLF-HBV group, and 1.659 (95% CI = 1.274, 2.159; p < 0.01 at rs1012335) in the HCC group. 20565290

2010

dbSNP: rs1014509103
rs1014509103
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE We found that six SNPs in ADAMTS4 were differential distribution between cases and controls via the primary screening analyses; however, only rs538321148 and rs1014509103 polymorphisms were further identified to modify the risk of HCC (odds ratio: 2.73 and 2.95; 95% confidence interval, 2.28-3.29 and 2.43-3.58; P-value, 5.73 × 10<sup>-27</sup> and 1.36 × 10<sup>-27</sup> , respectively). 31663692

2019

dbSNP: rs10204525
rs10204525
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 GeneticVariation BEFREE In lymphocytes from chronic HBV patients with rs10204525 genotype AA, no similar effects were observed. miR-4717 levels in peripheral lymphocytes from patients with HBV-related chronic hepatitis, cirrhosis and HCC were significantly decreased. 25895129

2015

dbSNP: rs10204525
rs10204525
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 GeneticVariation BEFREE This study simultaneously examined PD-1 and TIM-3 expression in liver tissues and PD1 and TIM3 polymorphisms and analyzed their correlations in 171 patients with HBV-related HCC and 34 patients with HBV-related cirrhosis.PD-1 and TIM-3 expression in liver tissues were examined by immunohistochemistry and the genotypes of PD1 rs10204525 and TIM3 rs10053538 polymorphisms were determined using genomic DNA extracted from peripheral blood as template.Both PD-1 and TIM-3 expressions in liver infiltrating lymphocytes of HCC tumor tissues were significantly higher than those in tumor adjacent tissues or cirrhotic tissues. 28033288

2016

dbSNP: rs10272859
rs10272859
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.710 GeneticVariation BEFREE This index rs10272859 also showed significant association with the survival of HCC patients.<b>Conclusions:</b> Our findings highlight a novel locus at 7q21.13 conferring both susceptibility and prognosis to HBV-related HCC, and suggest the <i>CDK14</i> gene to be the functional target of the 7q21.13 locus.<i></i>. 29246937

2018

dbSNP: rs1040441824
rs1040441824
PTS
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE In contrast to its inactivity in these cells, the K129E mutant was 2-3 fold more active than wild-type PTPS when transfected into COS-1 or the human hepatoma cell line Hep G2. 9222757

1997

dbSNP: rs1042489
rs1042489
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE No association between rs8073069, rs9904341 or rs1042489 in survivin gene and the risk of HCC is found in Chinese han population, but rs8073069G-rs9904341C- rs1042489T is perhaps a protective haplotype for HCC. 22214342

2012

dbSNP: rs1042522
rs1042522
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE No publication bias was found for all the meta-analysis as suggested by the Begg funnel plot and Egger tests.These results suggested that variants MDM2 SNP309 and p53 Arg72Pro are susceptibility factors for HCC; however, more studies are warranted to validate the results. 28885338

2017

dbSNP: rs1042522
rs1042522
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE The study on p53 Arg72Pro and XRCC1 Arg399Gln polymorphism in HCC patients demonstrated differences in allele frequencies compared to their controls. 23053887

2013

dbSNP: rs1042522
rs1042522
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Our data suggest that Arg72Pro polymorphism in a WT p53 context may act as a primary driver of epigenetic changes in HCC. 25889455

2015

dbSNP: rs1042522
rs1042522
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.100 GeneticVariation BEFREE Meta-analyses of available data suggest an obvious association between the TP53 Arg72Pro and HCC risk in Caucasians. 23167333

2012