RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
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: 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: rs1131690862
rs1131690862 		13 48342611 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690875
rs1131690875 		13 48377020 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 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: rs587778828
rs587778828 		1.000 0.080 13 48364911 frameshift variant -/A delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555294600
rs1555294600 		1.000 0.080 13 48465033 frameshift variant -/AA ins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555285429
rs1555285429 		1.000 0.080 13 48367532 stop gained -/AAAAATAAAGATCTAGATGCAAGATTATTTTTGGATCATGATAAAACTCTTCAGA delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555283670
rs1555283670 		1.000 0.080 13 48349012 stop gained -/ATTAG delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1131690852
rs1131690852 		1.000 0.080 13 48303925 frameshift variant -/C delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 1.000 3 2003 2015
dbSNP: rs1131690852
rs1131690852 		1.000 0.080 13 48303925 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587778830
rs587778830 		1.000 0.080 13 48373422 frameshift variant -/C delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778851
rs587778851 		1.000 0.080 13 48476704 frameshift variant -/C delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs1555279195
rs1555279195 		13 48303914 frameshift variant -/CAAAACCCCCCGAAAAACGGCCGCCACCGCCGCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 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: rs1555286570
rs1555286570 		13 48380062 frameshift variant -/GATT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 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
dbSNP: rs1555279212
rs1555279212 		1.000 0.080 13 48303958 frameshift variant -/GGAACCCCCGGCACCGCCGC delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
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: rs1555279210
rs1555279210 		1.000 0.080 13 48303957 frameshift variant -/GGAACCCCCGGCACCGCCGCCGC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131690895
rs1131690895 		13 48349024 splice donor variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2005 2005
dbSNP: rs1555286236
rs1555286236 		1.000 0.080 13 48376977 frameshift variant -/T delins
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: rs587778854
rs587778854 		1.000 0.080 13 48345161 frameshift variant -/T delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs587778824
rs587778824 		1.000 0.080 13 48307368 frameshift variant -/TA delins
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.700 0