LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Progeria Syndrome, Childhood-Onset ×
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: rs60652225
rs60652225 		0.851 0.200 1 156130679 missense variant T/C;G snv
CUI: C2750285
Disease: Progeria Syndrome, Childhood-Onset
Progeria Syndrome, Childhood-Onset 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs60864230
rs60864230 		0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06
CUI: C2750285
Disease: Progeria Syndrome, Childhood-Onset
Progeria Syndrome, Childhood-Onset 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs730882262
rs730882262 		0.851 0.160 1 156135293 missense variant T/C;G snv
CUI: C2750285
Disease: Progeria Syndrome, Childhood-Onset
Progeria Syndrome, Childhood-Onset 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0