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: rs57207746
rs57207746
LMNA
0.925 0.120 1 156134860 missense variant G/A snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 1.000 5 2000 2017
dbSNP: rs57207746
rs57207746
LMNA
0.925 0.120 1 156134860 missense variant G/A snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.010 1.000 1 2006 2006