rs1060502716, CHEK2

N. diseases: 3
Source: ALL
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.
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv 0.700 1.000 14 2001 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv 0.700 1.000 2 2011 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.080 22 28695874 splice acceptor variant C/A;G;T snv 0.700 0