rs281874727, COL4A5

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alport Syndrome
CUI: C1567741
Disease: Alport Syndrome
0.700 CausalMutation CLINVAR
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
0.010 GeneticVariation BEFREE The early onset retinopathy was associated with a severe mutation (Q1383X). 18343956 2008