RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Retinoblastoma ×
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: rs587776791
rs587776791 		1.000 0.080 13 48471962 intron variant A/G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778823
rs587778823 		1.000 0.080 13 48303979 inframe insertion GCC/-;GCCGCC delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778824
rs587778824 		1.000 0.080 13 48307368 frameshift variant -/TA delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778825
rs587778825 		1.000 0.080 13 48342638 frameshift variant GT/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778826
rs587778826 		1.000 0.080 13 48347832 stop gained G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778827
rs587778827 		1.000 0.080 13 48362888 frameshift variant A/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778828
rs587778828 		1.000 0.080 13 48364911 frameshift variant -/A delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778829
rs587778829 		1.000 0.080 13 48368534 frameshift variant CA/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778830
rs587778830 		1.000 0.080 13 48373422 frameshift variant -/C delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778831
rs587778831 		1.000 0.080 13 48376917 splice acceptor variant G/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778832
rs587778832 		1.000 0.080 13 48380198 frameshift variant TT/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778833
rs587778833 		1.000 0.080 13 48456298 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778834
rs587778834 		1.000 0.080 13 48459700 missense variant C/A;T snv 4.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778835
rs587778835 		1.000 0.080 13 48463821 missense variant C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778836
rs587778836 		1.000 0.080 13 48465012 frameshift variant -/TGAT delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778837
rs587778837 		1.000 0.080 13 48465331 frameshift variant G/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778838
rs587778838 		1.000 0.080 13 48473359 splice acceptor variant G/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778839
rs587778839 		1.000 0.080 13 48476845 splice donor variant T/C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778840
rs587778840 		1.000 0.080 13 48307359 frameshift variant A/- del
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778841
rs587778841 		1.000 0.080 13 48345137 frameshift variant TGCT/- del
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778843
rs587778843 		1.000 0.080 13 48364969 stop gained G/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778844
rs587778844 		1.000 0.080 13 48367575 frameshift variant A/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778845
rs587778845 		1.000 0.080 13 48373443 stop gained T/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778847
rs587778847 		1.000 0.080 13 48379607 missense variant G/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778849
rs587778849 		1.000 0.080 13 48463788 stop gained A/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0