RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Retinoblastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690852
rs1131690852
Entrez Id: 5925;100862704
Gene Symbol: RB1;RB1-DT
RB1;RB1-DT
CUI: C0035335
Disease:
Retinoblastoma 		AC 0.700 CausalMutation CLINVAR Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. 26539030 2015
dbSNP: rs1131690852
rs1131690852
Entrez Id: 5925;100862704
Gene Symbol: RB1;RB1-DT
RB1;RB1-DT
CUI: C0035335
Disease:
Retinoblastoma 		AC 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
dbSNP: rs1131690852
rs1131690852
Entrez Id: 5925;100862704
Gene Symbol: RB1;RB1-DT
RB1;RB1-DT
CUI: C0035335
Disease:
Retinoblastoma 		AC 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220 2003