rs397517889, LMNA

N. diseases: 3
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, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 0.700 1.000 14 2000 2014
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 0.700 1.000 9 2003 2014
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.925 0.120 1 156136093 missense variant C/T snv 7.0E-06 0.700 0