LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607634
rs267607634 		0.925 0.120 1 156136045 missense variant G/A;C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2012 2017