rs730881687, CHEK2

N. diseases: 4
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 1.000 0.080 22 28710060 splice acceptor variant C/A;T snv 1.2E-05; 1.6E-05 0.700 1.000 4 2015 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.080 22 28710060 splice acceptor variant C/A;T snv 1.2E-05; 1.6E-05 0.700 1.000 2 2016 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 1.000 0.080 22 28710060 splice acceptor variant C/A;T snv 1.2E-05; 1.6E-05 0.010 1.000 1 2019 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 1.000 0.080 22 28710060 splice acceptor variant C/A;T snv 1.2E-05; 1.6E-05 0.010 1.000 1 2019 2019