LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Emery-Dreifuss Muscular Dystrophy 3 ×
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: rs199474724
rs199474724 		0.851 0.120 1 156134839 missense variant G/A snv
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2012 2017
dbSNP: rs11575937
rs11575937 		0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28928901
rs28928901 		0.882 0.120 1 156134829 missense variant C/T snv
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386134243
rs386134243 		0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0