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: rs1050717570
rs1050717570
1.000 0.080 13 48381393 missense variant C/T snv 7.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1060503067
rs1060503067
1.000 0.080 13 48459756 stop gained G/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1060503074
rs1060503074
1.000 0.080 13 48373494 splice donor variant T/G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1060503075
rs1060503075
1.000 0.080 13 48463818 frameshift variant CCTC/- del
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1060503077
rs1060503077
1.000 0.080 13 48367521 stop gained G/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1060503079
rs1060503079
1.000 0.080 13 48377030 stop gained C/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1060503087
rs1060503087
1.000 0.080 13 48379651 splice donor variant G/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1060503088
rs1060503088
1.000 0.080 13 48452981 intron variant T/G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1064792974
rs1064792974
1.000 0.080 13 48303948 frameshift variant GCCGCCGCTGCCGCCGCGGAACCCCCGGC/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1131690842
rs1131690842
1.000 0.080 13 48453001 frameshift variant T/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1131690843
rs1131690843
1.000 0.080 13 48342714 missense variant G/A;C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1276653645
rs1276653645
1.000 0.080 13 48303991 frameshift variant C/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs137853295
rs137853295
1.000 0.080 13 48459750 stop gained G/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555279212
rs1555279212
1.000 0.080 13 48303958 frameshift variant -/GGAACCCCCGGCACCGCCGC delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555283482
rs1555283482
1.000 0.080 13 48347833 frameshift variant A/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555283670
rs1555283670
1.000 0.080 13 48349012 stop gained -/ATTAG delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555285429
rs1555285429
1.000 0.080 13 48367532 stop gained -/AAAAATAAAGATCTAGATGCAAGATTATTTTTGGATCATGATAAAACTCTTCAGA delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555286220
rs1555286220
1.000 0.080 13 48376940 frameshift variant AA/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555286236
rs1555286236
1.000 0.080 13 48376977 frameshift variant -/T delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555286503
rs1555286503
1.000 0.080 13 48379592 splice acceptor variant A/G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555286611
rs1555286611
1.000 0.080 13 48380201 frameshift variant A/- del
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555286695
rs1555286695
1.000 0.080 13 48381381 frameshift variant GAAATGAT/- del
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555286707
rs1555286707
1.000 0.080 13 48381420 frameshift variant -/TG delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555294600
rs1555294600
1.000 0.080 13 48465033 frameshift variant -/AA ins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555294626
rs1555294626
1.000 0.080 13 48465329 frameshift variant AAGG/TTT delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
Neoplasms; Eye Diseases 0.700 0