rs137853011, CHEK2

N. diseases: 16
Disease: Malignant neoplasm of ovary ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
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