Source: CLINVAR

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: rs28933091
rs28933091
LMNA
0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.800 1.000 0 1999 2017
dbSNP: rs28933091
rs28933091
LMNA
0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 5 1999 2007
dbSNP: rs28933091
rs28933091
LMNA
0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.710 1.000 0 2001 2001
dbSNP: rs28933091
rs28933091
LMNA
0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 2001 2013