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: 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: 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: 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: rs587776791
rs587776791 		1.000 0.080 13 48471962 intron variant A/G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587781256
rs587781256 		1.000 0.080 13 48380087 intron variant ACTTTTAGTAAAAAATTTTTT/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
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: 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: 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: 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: 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: 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: 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: 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: 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: rs1131690908
rs1131690908 		1.000 0.080 13 48473383 stop gained C/A;G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 1995 1995
dbSNP: rs121913298
rs121913298 		1.000 0.080 13 48349012 stop gained T/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2014 2014
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: rs1555282775
rs1555282775 		1.000 0.080 13 48342617 stop gained A/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1566196458
rs1566196458 		1.000 0.080 13 48373460 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2014 2014
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