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: rs58327533
rs58327533
LMNA
1.000 0.120 1 156114991 missense variant C/G;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 0
dbSNP: rs58327533
rs58327533
LMNA
1.000 0.120 1 156114991 missense variant C/G;T snv
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.010 1.000 1 2009 2009
dbSNP: rs58327533
rs58327533
LMNA
1.000 0.120 1 156114991 missense variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.010 1.000 1 2009 2009
dbSNP: rs58327533
rs58327533
LMNA
1.000 0.120 1 156114991 missense variant C/G;T snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2009 2009