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: 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: 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: 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: 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: 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: 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: rs1131690851
rs1131690851 		1.000 0.080 13 48379606 missense variant G/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2007 2017
dbSNP: rs1131690881
rs1131690881 		1.000 0.080 13 48473395 splice region variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2005 2017
dbSNP: rs1131690901
rs1131690901 		1.000 0.080 13 48364897 frameshift variant A/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2014 2017
dbSNP: rs1566235470
rs1566235470 		1.000 0.080 13 48459792 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2017 2017
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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs1131690860
rs1131690860 		1.000 0.080 13 48367493 splice acceptor variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2007 2016
dbSNP: rs1555286568
rs1555286568 		1.000 0.080 13 48380051 splice acceptor variant A/C;G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2007 2016
dbSNP: rs1555295354
rs1555295354 		1.000 0.080 13 48476843 missense variant G/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2014 2016