rs56816490, LMNA

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.925 0.120 1 156135913 stop gained G/A;T snv 0.700 1.000 17 1999 2012
Hereditary Motor and Sensory-Neuropathy Type II
144 0.925 0.120 1 156135913 stop gained G/A;T snv 0.700 1.000 4 2002 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.925 0.120 1 156135913 stop gained G/A;T snv 0.700 1.000 3 2002 2009
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.925 0.120 1 156135913 stop gained G/A;T snv 0.700 0