rs28933091, LMNA

N. diseases: 4
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.
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.882 0.160 1 156134474 missense variant C/A;G snv 0.800 1.000 20 1999 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.882 0.160 1 156134474 missense variant C/A;G snv 0.710 1.000 5 1999 2007
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.882 0.160 1 156134474 missense variant C/A;G snv 0.710 1.000 1 2001 2001
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.882 0.160 1 156134474 missense variant C/A;G snv 0.700 1.000 5 2001 2013