rs137853315, FLNA

N. diseases: 3
Disease: Ehlers-Danlos Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
0.010 GeneticVariation BEFREE The findings suggest that the Ala128Val mutation causes the dual EDS-PNH phenotype. 15994863 2006