LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Muscular Dystrophy, Emery-Dreifuss ×
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: rs1060502215
rs1060502215 		0.925 0.120 1 156115040 missense variant G/A;T snv
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0