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: rs200928781
rs200928781
CHEK2
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 		0.810 1.000 5 2002 2018
dbSNP: rs200928781
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2011 2016