rs56984562, LMNA

N. diseases: 6
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 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.810 1.000 24 1999 2017
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.700 1.000 14 2003 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.700 1.000 4 2003 2010
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.700 1.000 2 2012 2017
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
42 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
37 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010