rs587776789, RB1

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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 13 48349024 splice donor variant G/A;T snv 0.700 1.000 10 1995 2017
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 0.925 0.200 13 48349024 splice donor variant G/A;T snv 0.700 1.000 3 2002 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
50 0.925 0.200 13 48349024 splice donor variant G/A;T snv 0.700 0