rs104886088, COL4A5

N. diseases: 3
Disease: Alport Syndrome, X-Linked ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alport Syndrome, X-Linked
CUI: C1567742
Disease: Alport Syndrome, X-Linked
0.010 GeneticVariation BEFREE Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. 1376965 1992