rs104886303, COL4A5

N. diseases: 4
Disease: X-linked hydrocephalus syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
X-linked hydrocephalus syndrome
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
0.010 GeneticVariation BEFREE The L1649R mutation in the COL4A5 gene causes a relatively mild form of XLAS characterized by late-onset renal failure and less frequent, severe temporal macular thinning relative to other COL4A5 mutations. 23572034 2013