rs1195312059, ERG

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.010 GeneticVariation BEFREE Genomic DNA was analyzed by targeted analysis of the c.133C>T;p.R45W mutation for all RP or macular dystrophy-related genes. 30025130 2018
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
0.010 GeneticVariation BEFREE Genomic DNA was analyzed by targeted analysis of the c.133C>T;p.R45W mutation for all RP or macular dystrophy-related genes. 30025130 2018
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.010 GeneticVariation BEFREE Genomic DNA was analyzed by targeted analysis of the c.133C>T;p.R45W mutation for all RP or macular dystrophy-related genes. 30025130 2018