LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Disease: Charcot-Marie-Tooth Disease ×
Source: BEFREE ×
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: rs59885338
rs59885338 		0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.730 1.000 3 2003 2008
dbSNP: rs1057515421
rs1057515421 		0.925 0.120 1 156136284 stop gained C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2003 2008