COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Alport Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886303
rs104886303
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
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