LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Charcot-Marie-Tooth disease, Type 2B1 ×
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: rs59885338
rs59885338 		0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2002 2008
dbSNP: rs11575937
rs11575937 		0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs59332535
rs59332535 		0.827 0.160 1 156134911 missense variant G/A snv
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0