Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338766
rs80338766
FBLN5
0.030 GeneticVariation BEFREE We have recently reported a case of cutis laxa caused by a fibulin-5 missense mutation (p.C217R). 20613779

2010
dbSNP: rs80338766
rs80338766
FBLN5
0.030 GeneticVariation BEFREE A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. 18185537

2008
dbSNP: rs80338766
rs80338766
FBLN5
0.030 GeneticVariation BEFREE Fibulin 5 secretion was significantly reduced (P<0.001) for four ARMD (p.G412E, p.G267S, p.I169 T, and p.Q124P) and two cutis laxa (p.S227P, p.C217R) mutations. 16652333

2006