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: rs587782245
rs587782245
CHEK2
1.000 0.080 22 28724978 frameshift variant T/- delins 2.0E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2007 2017
dbSNP: rs587782245
rs587782245
CHEK2
1.000 0.080 22 28724978 frameshift variant T/- delins 2.0E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 1 2007 2007