Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934571
rs28934571
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912654
rs121912654
A 0.720 CausalMutation CLINVAR

dbSNP: rs28934578
rs28934578
T 0.710 CausalMutation CLINVAR

dbSNP: rs1131691003
rs1131691003
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691042
rs1131691042
T 0.700 CausalMutation CLINVAR

dbSNP: rs11540652
rs11540652
T 0.700 CausalMutation CLINVAR

dbSNP: rs28934576
rs28934576
T 0.700 CausalMutation CLINVAR

dbSNP: rs55832599
rs55832599
A 0.700 GeneticVariation CLINVAR

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE A mutation in the tumor suppressor p53 gene resulting in an Arg-->Ser substitution in position 249 is found frequently in human hepatocellular carcinomas associated with hepatitis B infection and with aflatoxin exposure. 7605578

1995

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE We report here that p53-deficient hepatoma cells (Hep3B) transfected with mutant p53-249ser (codon 249 Arg-->Ser) acquire a new phenotype with an increased in vitro survival and mitotic activity. 8174105

1994

dbSNP: rs1457582183
rs1457582183
0.010 GeneticVariation BEFREE Complete sequence analysis of these samples demonstrated a missense mutation in exon 5 (K144I) and exon 7 (V255A) from HCC samples B6-21 and B6-2, respectively. 10340391

1999

dbSNP: rs11540652
rs11540652
T 0.700 GeneticVariation CLINVAR Mutant p53 expression enhances drug resistance in a hepatocellular carcinoma cell line. 15004724

2004

dbSNP: rs121913343
rs121913343
A 0.700 GeneticVariation CLINVAR Mutant p53 expression enhances drug resistance in a hepatocellular carcinoma cell line. 15004724

2004

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE A selective mutation in TP53 (AGG-->AGT at codon 249, Arg-->Ser) has been identified as a hotspot in HCCs from such areas, reflecting DNA damage caused by aflatoxin metabolites. 15095302

2004

dbSNP: rs121912655
rs121912655
0.710 GeneticVariation BEFREE Involvement of interferon regulatory factor 1 and S100C/A11 in growth inhibition by transforming growth factor beta 1 in human hepatocellular carcinoma cells. 15205326

2004

dbSNP: rs1057519982
rs1057519982
0.010 GeneticVariation BEFREE Involvement of interferon regulatory factor 1 and S100C/A11 in growth inhibition by transforming growth factor beta 1 in human hepatocellular carcinoma cells. 15205326

2004

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Homozygosity for Pro of p53 Arg72Pro is potentially one of the genetic risk factors for HCC in Chinese population. 15633234

2005

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE Homozygosity for Pro of p53 Arg72Pro is potentially one of the genetic risk factors for HCC in Chinese population. 15633234

2005

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE Homozygosity for Pro of p53 Arg72Pro is potentially one of the genetic risk factors for HCC in Chinese population. 15633234

2005

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE The presence of the R249S mutation in exon 7 may indicate that these subjects with HCC have been exposed to aflatoxin (AFB1), and further investigation is in progress to measure AFB1-albumin adducts in the sera of these subjects. 16078640

2005

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Thus, MDM2 SNP 309 and p53 Arg72Pro are associated with the early development of HCC in Korean patients with chronic HBV infection. 18390844

2008

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE Thus, MDM2 SNP 309 and p53 Arg72Pro are associated with the early development of HCC in Korean patients with chronic HBV infection. 18390844

2008

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE Thus, MDM2 SNP 309 and p53 Arg72Pro are associated with the early development of HCC in Korean patients with chronic HBV infection. 18390844

2008

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE Overall, these results suggest that HCC containing R249S can occur in the absence of significant recent exposure to aflatoxins. 19366907

2009

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE Here, we summarize the mechanisms of R249S formation and the possible role of p.R249S protein in HCC pathogenesis. 19376640

2009