Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747797219
rs747797219
CHEK2
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 GeneticVariation BEFREE For UADT cancer risk, associations were observed for the homozygous carriers of the variant alleles of MGMT L84F [odds ratio (OR) 2.35, 95% confidence interval (CI) 1.32-4.20], MGMT 171C > T (OR 2.24, 95% CI 1.20-4.17) and OGG1 S326C (OR 2.07, 95% CI 1.15-3.73) whilst three variants were associated with a protective effect (XPA 23G > A, P for trend 0.022, APEX Q51H, P for trend 0.036, CHEK2 intron 9-200T > C, P for trend 0.009). 17040931

2007
dbSNP: rs747797219
rs747797219
CHEK2
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 GeneticVariation BEFREE One germline TP53 mutation (c.408A > T/p.Gln136His) and two somatic mutations (c.1022T > G/p.Phe341Cys and c.108-109ins22/p.His37fsX13) are novel to human cancer. 16941491

2006