rs104886142, COL4A5

N. diseases: 10
Disease: Andersen Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
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