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: rs72552322
rs72552322
CHEK2
0.925 0.120 22 28725070 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2002 2017
dbSNP: rs72552322
rs72552322
CHEK2
0.925 0.120 22 28725070 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs72552322
rs72552322
CHEK2
0.925 0.120 22 28725070 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO 		0.700 0