rs58034145, LMNA

N. diseases: 10
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 0.827 0.160 1 156134830 missense variant A/C snv 0.710 1.000 1 2005 2005
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.827 0.160 1 156134830 missense variant A/C snv 0.050 0.800 5 2009 2019
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
18 0.827 0.160 1 156134830 missense variant A/C snv 0.040 0.750 4 2013 2019
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.827 0.160 1 156134830 missense variant A/C snv 0.020 1.000 2 2005 2013
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2013 2013
Conduction disorder of the heart
CUI: C0264886
Disease: Conduction disorder of the heart
11 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2017 2017
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2019 2019
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2012 2012
Left ventricular dilatation
CUI: C0344911
Disease: Left ventricular dilatation
3 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1 2012 2012
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2005 2005