CHEK2, checkpoint kinase 2, 11200

N. diseases: 48; N. variants: 209
Disease: Carcinoma, Ovarian Epithelial ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864622149
rs864622149 		0.851 0.160 22 28710005 splice donor variant C/A;G;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0