RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic screening in Iranian patients with retinoblastoma. 27983729 2017
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. 15605413 2005
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. 14722923 2004
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220 2003
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma. 12402348 2002
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. 8651278 1996
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. 7704558 1994