Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs555607708
rs555607708
A 0.700 CausalMutation CLINVAR

dbSNP: rs761494650
rs761494650
A 0.700 CausalMutation CLINVAR

dbSNP: rs137853011
rs137853011
0.010 GeneticVariation BEFREE This karyotype phenotype was not observed in other tested tissues or in an ovarian cancer patient with a different homozygous missense mutation in <i>CHEK2</i> (c.1283C>T; p.Ser428Phe). 30858171

2019

dbSNP: rs200928781
rs200928781
0.010 GeneticVariation BEFREE Four of the Y390C carriers have family history of breast and/or ovarian cancer. 25619829

2015

dbSNP: rs1805129
rs1805129
0.010 GeneticVariation BEFREE Mutation screening of the CHEK2 gene in 48 cases who had a first-degree relative with OvCa uncovered only del1100C and A252G variants. 15385111

2004

dbSNP: rs587780191
rs587780191
0.010 GeneticVariation BEFREE Mutation screening of the CHEK2 gene in 48 cases who had a first-degree relative with OvCa uncovered only del1100C and A252G variants. 15385111

2004