rs864622149, CHEK2

N. diseases: 5
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
1390 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 1.000 2 2011 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 1.000 1 2015 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
763 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 0
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
6 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
99 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 0