rs587776416, PALB2

N. diseases: 5
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 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 1.000 7 2014 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 1.000 5 2014 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 1.000 3 2014 2014
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 0
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 0