Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.710 1.000 1 2005 2005
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.050 0.800 5 2009 2019
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.040 0.750 4 2013 2019
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.020 1.000 2 2005 2013
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 2013 2013
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.010 1.000 1 2012 2012
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart 		0.010 1.000 1 2017 2017
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.010 1.000 1 2005 2005
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 1.000 1 2019 2019
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0344911
Disease: Left ventricular dilatation
Left ventricular dilatation 		0.010 < 0.001 1 2012 2012