COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Hematuria, Benign Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886142
rs104886142
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C0241908
Disease:
Hematuria, Benign Familial 		0.010 GeneticVariation BEFREE One of the missense mutations (p.G624D) was present not only in one family with ATS but also in five families with suspected BFH. 17396119 2007