Source: CLINVAR

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: rs761494650
rs761494650
CHEK2
0.925 0.160 22 28734637 stop gained G/A snv 4.0E-06; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2017 2017
dbSNP: rs761494650
rs761494650
CHEK2
0.925 0.160 22 28734637 stop gained G/A snv 4.0E-06; 8.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs761494650
rs761494650
CHEK2
0.925 0.160 22 28734637 stop gained G/A snv 4.0E-06; 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0