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: rs267607581
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 4 1996 2017
dbSNP: rs267607581
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 4 1996 2017
dbSNP: rs267607581
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.700 0
dbSNP: rs267607581
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0