Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886142
rs104886142
COL4A5
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