rs786203053, CHEK2

N. diseases: 2
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.080 22 28699926 frameshift variant C/-;CC delins 0.700 1.000 1 2017 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 1.000 0.080 22 28699926 frameshift variant C/-;CC delins 0.700 0