FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Disease: Filaminopathy, autosomal dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748416758
rs748416758
Entrez Id: 2318;110806300
Gene Symbol: FLNC;FLNC-AS1
FLNC;FLNC-AS1
CUI: C1836050
Disease:
Filaminopathy, autosomal dominant 		T 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016