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: rs864622149
rs864622149
CHEK2
0.851 0.160 22 28710005 splice donor variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2011 2014
dbSNP: rs864622149
rs864622149
CHEK2
0.851 0.160 22 28710005 splice donor variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs864622149
rs864622149
CHEK2
0.851 0.160 22 28710005 splice donor variant C/A;G;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.700 0
dbSNP: rs864622149
rs864622149
CHEK2
0.851 0.160 22 28710005 splice donor variant C/A;G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 0
dbSNP: rs864622149
rs864622149
CHEK2
0.851 0.160 22 28710005 splice donor variant C/A;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0