CHEK2, checkpoint kinase 2, 11200

N. diseases: 5; N. variants: 16
Disease: Malignant neoplasm of breast ×
Source: UNIPROT ×
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: rs200928781
rs200928781 		0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.810 1.000 8 2002 2018