rs137853296, 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.
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 1.000 0.080 13 48463758 missense variant T/C snv 0.800 1.000 13 1989 2001
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.080 13 48463758 missense variant T/C snv 0.700 1.000 4 1998 2005
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 1.000 0.080 13 48463758 missense variant T/C snv 0.010 1.000 1 1998 1998