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: rs137853294
rs137853294 		0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.800 1.000 26 1989 2017
dbSNP: rs137853292
rs137853292 		1.000 0.080 13 48452997 missense variant C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.800 1.000 19 1989 2017
dbSNP: rs137853296
rs137853296 		1.000 0.080 13 48463758 missense variant T/C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.800 1.000 13 1989 2001
dbSNP: rs121434309
rs121434309 		1.000 0.040 13 48411859 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.800 1.000 1 2008 2008
dbSNP: rs879255262
rs879255262 		1.000 0.040 13 48412236 missense variant T/A;C snv
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.800 1.000 1 2008 2008
dbSNP: rs121913302
rs121913302 		1.000 0.080 13 48379624 stop gained C/T snv 7.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.710 1.000 7 1996 2016
dbSNP: rs137853297
rs137853297 		1.000 0.080 13 48456207 stop gained T/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.710 1.000 1 2006 2006
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: rs200844292
rs200844292 		1.000 0.080 13 48364961 missense variant G/A snv 3.7E-04 2.8E-04
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 19 1989 2017
dbSNP: rs767011440
rs767011440 		1.000 0.080 13 48368550 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 19 1989 2017
dbSNP: rs587776783
rs587776783 		0.851 0.200 13 48373493 splice donor variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 1997 2008
dbSNP: rs1131690863
rs1131690863 		1.000 0.080 13 48362847 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 10 1994 2016
dbSNP: rs3092891
rs3092891 		1.000 0.080 13 48379594 stop gained C/T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1989 2017
dbSNP: rs587776789
rs587776789 		0.925 0.200 13 48349024 splice donor variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1995 2017
dbSNP: rs587778842
rs587778842 		1.000 0.080 13 48362859 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1994 2015
dbSNP: rs121913301
rs121913301 		1.000 0.080 13 48368549 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 1995 2015
dbSNP: rs121913302
rs121913302 		1.000 0.080 13 48379624 stop gained C/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 1996 2018
dbSNP: rs121913300
rs121913300 		1.000 0.080 13 48367512 stop gained C/G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1994 2017
dbSNP: rs121913301
rs121913301 		1.000 0.080 13 48368549 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 8 1995 2016
dbSNP: rs137853293
rs137853293 		1.000 0.080 13 48465238 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1989 2015
dbSNP: rs137853294
rs137853294 		0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1992 2017
dbSNP: rs587778850
rs587778850 		1.000 0.080 13 48473391 splice donor variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 8 2003 2017
dbSNP: rs1131690863
rs1131690863 		1.000 0.080 13 48362847 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 1994 2013
dbSNP: rs121913300
rs121913300 		1.000 0.080 13 48367512 stop gained C/G;T snv 1.2E-05
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 7 1994 2017
dbSNP: rs3092891
rs3092891 		1.000 0.080 13 48379594 stop gained C/T snv 4.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 7 1989 2016