Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142763740
rs142763740
CHEK2
1.000 0.080 22 28694066 missense variant G/A;C;T snv 3.3E-04 3.1E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 17 1999 2018
dbSNP: rs142763740
rs142763740
CHEK2
1.000 0.080 22 28694066 missense variant G/A;C;T snv 3.3E-04 3.1E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0