rs104886303, COL4A5

N. diseases: 4
Disease: Alport Syndrome ×
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
0.010 GeneticVariation BEFREE The L1649R mutation is a relatively common cause of Alport syndrome in the western United States, in part because of the rapid growth and migratory expansion of mid-nineteenth-century pioneer populations carrying the gene. 8651292 1996