rs267607639, LMNA

N. diseases: 3
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 0.882 0.200 1 156136939 missense variant T/C snv 0.700 1.000 2 2012 2017
Familial generalized lipodystrophy
CUI: C0221032
Disease: Familial generalized lipodystrophy
15 0.882 0.200 1 156136939 missense variant T/C snv 0.010 1.000 1 2003 2003
Generalized Lipodystrophy
CUI: C4317112
Disease: Generalized Lipodystrophy
5 0.882 0.200 1 156136939 missense variant T/C snv 0.010 1.000 1 2003 2003