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: rs59301204
rs59301204
LMNA
0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 8 2007 2018
dbSNP: rs59301204
rs59301204
LMNA
0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0