Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs58932704
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.810 1.000 3 2008 2017
dbSNP: rs58932704
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 1991 2011
dbSNP: rs58932704
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs58932704
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs58932704
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.030 1.000 3 2005 2016
dbSNP: rs58932704
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.010 1.000 1 2003 2003
dbSNP: rs58932704
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.010 1.000 1 2005 2005
dbSNP: rs58932704
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		0.010 1.000 1 2003 2003