rs58932704, LMNA

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.776 0.200 1 156136413 missense variant C/T snv 0.810 1.000 3 2008 2017
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.776 0.200 1 156136413 missense variant C/T snv 0.700 1.000 5 1991 2011
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
CUI: C1834653
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
6 0.776 0.200 1 156136413 missense variant C/T snv 0.700 1.000 1 2016 2016
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.776 0.200 1 156136413 missense variant C/T snv 0.700 0
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
18 0.776 0.200 1 156136413 missense variant C/T snv 0.030 1.000 3 2005 2016
Familial generalized lipodystrophy
CUI: C0221032
Disease: Familial generalized lipodystrophy
15 0.776 0.200 1 156136413 missense variant C/T snv 0.010 1.000 1 2003 2003
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
16 0.776 0.200 1 156136413 missense variant C/T snv 0.010 1.000 1 2005 2005
Generalized Lipodystrophy
CUI: C4317112
Disease: Generalized Lipodystrophy
5 0.776 0.200 1 156136413 missense variant C/T snv 0.010 1.000 1 2003 2003