rs104886142, COL4A5

N. diseases: 10
Disease: Hematuria, Benign Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hematuria, Benign Familial
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