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: rs1131690858
rs1131690858 		13 48473391 splice region variant GAGT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1993 2015
dbSNP: rs121913303
rs121913303 		1.000 0.080 13 48381402 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 6 1994 2016
dbSNP: rs3092902
rs3092902 		1.000 0.080 13 48345110 missense variant A/T snv 3.4E-04 3.9E-04
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 6 2004 2017
dbSNP: rs387906521
rs387906521 		1.000 0.080 13 48303715 upstream gene 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 6 1989 2014
dbSNP: rs398123331
rs398123331 		1.000 0.080 13 48380062 stop gained C/A;G;T snv 7.6E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1995 2018
dbSNP: rs121913305
rs121913305 		1.000 0.080 13 48453032 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 5 1996 2016
dbSNP: rs137853293
rs137853293 		1.000 0.080 13 48465238 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 5 1989 2015
dbSNP: rs1566234123
rs1566234123 		1.000 0.080 13 48456342 frameshift variant -/A delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 5 2005 2015
dbSNP: rs587776787
rs587776787 		1.000 0.080 13 48463835 missense variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 5 1997 2012
dbSNP: rs587778842
rs587778842 		1.000 0.080 13 48362859 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 5 1994 2016
dbSNP: rs1131690882
rs1131690882 		1.000 0.080 13 48465112 splice donor variant G/A;C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 4 2005 2017
dbSNP: rs137853296
rs137853296 		1.000 0.080 13 48463758 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1998 2005
dbSNP: rs1555284956
rs1555284956 		1.000 0.080 13 48362957 missense variant G/A;C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 4 2001 2015
dbSNP: rs398123331
rs398123331 		1.000 0.080 13 48380062 stop gained C/A;G;T snv 7.6E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 4 1995 2015
dbSNP: rs587776783
rs587776783 		0.851 0.200 13 48373493 splice donor variant G/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 4 1989 2016
dbSNP: rs1131690846
rs1131690846 		13 48373424 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 3 2003 2006
dbSNP: rs1131690852
rs1131690852 		1.000 0.080 13 48303925 frameshift variant -/C delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 3 2003 2015
dbSNP: rs1131690907
rs1131690907 		13 48307407 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 3 2002 2008
dbSNP: rs121913296
rs121913296 		1.000 0.080 13 48345108 stop gained G/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 3 1996 2013
dbSNP: rs121913303
rs121913303 		1.000 0.080 13 48381402 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 3 2003 2014
dbSNP: rs121913304
rs121913304 		0.925 0.080 13 48381414 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 3 1997 2013
dbSNP: rs121913304
rs121913304 		0.925 0.080 13 48381414 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 3 2013 2015
dbSNP: rs121913305
rs121913305 		1.000 0.080 13 48453032 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 3 2003 2015
dbSNP: rs1566192530
rs1566192530 		1.000 0.080 13 48362865 frameshift variant AACAG/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 3 1997 2015
dbSNP: rs587776789
rs587776789 		0.925 0.200 13 48349024 splice donor variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 3 2002 2016