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: 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
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: 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: rs1131690864
rs1131690864 		1.000 0.080 13 48362953 missense variant A/G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2011 2013
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: rs1461382798
rs1461382798 		1.000 0.080 13 48380164 splice acceptor variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2005 2007
dbSNP: rs1555286250
rs1555286250 		1.000 0.080 13 48377034 missense variant G/C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2008 2011
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: rs1555294636
rs1555294636 		1.000 0.080 13 48465370 splice donor variant T/C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2007 2011
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
dbSNP: rs1566194415
rs1566194415 		1.000 0.080 13 48367606 splice region variant A/G snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 2 2003 2008
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: 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: rs1555279210
rs1555279210 		1.000 0.080 13 48303957 frameshift variant -/GGAACCCCCGGCACCGCCGCCGC delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2011 2011
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: rs1555282811
rs1555282811 		1.000 0.080 13 48342717 splice region variant A/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1566187856
rs1566187856 		1.000 0.080 13 48347864 splice donor variant G/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1566194323
rs1566194323 		1.000 0.080 13 48367502 frameshift variant TTCT/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2011 2011
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: rs1566199059
rs1566199059 		1.000 0.080 13 48380185 frameshift variant TT/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2011 2011