Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853312
rs137853312
FLNA
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.010 GeneticVariation BEFREE In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son. 16596676

2006
dbSNP: rs137853316
rs137853316
FLNA
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		0.010 GeneticVariation BEFREE We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1. 16596676

2006