rs1131690882, RB1

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.
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 1.000 0.080 13 48465112 splice donor variant G/A;C snv 0.700 1.000 4 2005 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.080 13 48465112 splice donor variant G/A;C snv 0.700 1.000 1 2005 2005