rs137853297, RB1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.710 GeneticVariation BEFREE To describe the documented growth, clinical course, and histopathology of retinoblastomas in an untreated and otherwise normal right eye of a 27-year-old white male with a g.153211T>A (p.Tyr606X) mutation in the retinoblastoma 1 gene, whose left eye was enucleated at age 2 years for 2 retinoblastomas. 16631255 2006
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.710 CausalMutation CLINVAR