rs121908707, 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.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 0.700 1.000 2 2011 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 0.700 1.000 1 2015 2015
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 0.700 0