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: rs9535023
rs9535023 		1.000 0.080 13 48380039 intron variant A/G;T snv 4.2E-02
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
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: 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: rs376886420
rs376886420 		1.000 0.080 13 48453114 splice region variant A/C;G snv 2.4E-05
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778870
rs587778870 		1.000 0.080 13 48345145 stop gained C/G;T snv 2.4E-05
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
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: 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: 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: rs1258442224
rs1258442224 		1.000 0.080 13 48381245 splice acceptor variant A/C;T snv 8.6E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2007 2007
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: 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
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: 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: rs587778861
rs587778861 		1.000 0.080 13 48465033 stop gained T/A;C snv 4.0E-06
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
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: 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: 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: 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: 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: 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: 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