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: rs1566235515
rs1566235515 		1.000 0.080 13 48459835 splice donor variant T/C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2007 2007
dbSNP: rs427686
rs427686 		1.000 0.080 13 48384180 intron variant C/T snv 0.77
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs483352690
rs483352690 		1.000 0.080 13 48456349 missense variant G/A;C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.710 1.000 1 2011 2011
dbSNP: rs587776788
rs587776788 		1.000 0.080 13 48380179 inframe deletion ACA/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2011 2011
dbSNP: rs587778846
rs587778846 		1.000 0.080 13 48377035 splice donor variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2007 2007
dbSNP: rs768305224
rs768305224 		1.000 0.080 13 48360053 stop gained C/A;T snv 4.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9568036
rs9568036 		1.000 0.080 13 48397800 intron variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2017 2017
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