RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587776783
rs587776783
0.851 0.200 13 48373493 splice donor variant G/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.700 0
dbSNP: rs137853294
rs137853294
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.700 0