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: rs267607639
rs267607639
LMNA
0.882 0.200 1 156136939 missense variant T/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607639
rs267607639
LMNA
0.882 0.200 1 156136939 missense variant T/C snv
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		0.010 1.000 1 2003 2003
dbSNP: rs267607639
rs267607639
LMNA
0.882 0.200 1 156136939 missense variant T/C snv
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.010 1.000 1 2003 2003