rs104886142, COL4A5

N. diseases: 10
Disease: ARTERIAL TORTUOSITY SYNDROME ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ARTERIAL TORTUOSITY SYNDROME
CUI: C1859726
Disease: ARTERIAL TORTUOSITY 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