Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434303
rs121434303
FBLN5
0.020 GeneticVariation BEFREE The results identified structural differences for the disease-causing cutis laxa mutants and for one AMD variant (G412E), suggesting that this may also be pathogenic. 20007835

2010
dbSNP: rs121434303
rs121434303
FBLN5
0.020 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