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: rs1566174065
rs1566174065 		1.000 0.080 13 48303947 frameshift variant C/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566174074
rs1566174074 		1.000 0.080 13 48303952 frameshift variant -/TGCCGCCGCGGAACCCCCGGCACCGC delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566174147
rs1566174147 		1.000 0.080 13 48304003 frameshift variant -/A delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566186087
rs1566186087 		1.000 0.080 13 48342631 frameshift variant -/A ins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566186125
rs1566186125 		1.000 0.080 13 48342704 frameshift variant TA/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566186836
rs1566186836 		1.000 0.080 13 48345079 splice acceptor variant G/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566186840
rs1566186840 		1.000 0.080 13 48345087 stop gained A/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566186889
rs1566186889 		1.000 0.080 13 48345163 stop gained -/TGAT delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566192557
rs1566192557 		1.000 0.080 13 48362896 frameshift variant T/- del
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566197747
rs1566197747 		1.000 0.080 13 48376996 stop gained A/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566199125
rs1566199125 		1.000 0.080 13 48380246 splice region variant G/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566233014
rs1566233014 		1.000 0.080 13 48453034 frameshift variant -/G delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566233076
rs1566233076 		1.000 0.080 13 48453086 stop gained C/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1566237098
rs1566237098 		1.000 0.080 13 48463794 frameshift variant -/T delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
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: rs387906520
rs387906520 		1.000 0.080 13 48303724 upstream gene variant G/T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs387906521
rs387906521 		1.000 0.080 13 48303715 upstream gene variant G/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587776779
rs587776779 		1.000 0.080 13 48473388 splice donor variant G/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587776780
rs587776780 		1.000 0.080 13 48456351 splice donor variant T/C snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587776781
rs587776781 		1.000 0.080 13 48465030 frameshift variant G/- del
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587776782
rs587776782 		1.000 0.080 13 48367604 splice donor variant G/A;T snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587776784
rs587776784 		1.000 0.080 13 48453053 frameshift variant AATCTGCTTG/- delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587776785
rs587776785 		1.000 0.080 13 48456338 stop gained TTTATAAAA/- del
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587776786
rs587776786 		1.000 0.080 13 48464997 splice acceptor variant G/A snv
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587776790
rs587776790 		1.000 0.080 13 48303953 frameshift variant -/GCTGCCGCCGCGGAACCCCCGGC delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0