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 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 1.000 11 1997 2008
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 1.000 4 1989 2016
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 0
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 0
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
125 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 0