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: rs104886186
rs104886186
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C1567741
Disease:
Alport Syndrome 		0.710 GeneticVariation BEFREE A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient. 8893151 1996
dbSNP: rs104886186
rs104886186
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C1567741
Disease:
Alport Syndrome 		A 0.710 CausalMutation CLINVAR