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: rs786202497
rs786202497
CHEK2
0.882 0.200 22 28719423 frameshift variant C/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2011 2014
dbSNP: rs786202497
rs786202497
CHEK2
0.882 0.200 22 28719423 frameshift variant C/- del
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		0.700 0
dbSNP: rs786202497
rs786202497
CHEK2
0.882 0.200 22 28719423 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs786202497
rs786202497
CHEK2
0.882 0.200 22 28719423 frameshift variant C/- del
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.700 0