rs58013325, 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.
Disorder of skeletal muscle
CUI: C1533847
Disease: Disorder of skeletal muscle
10 1.000 0.080 1 156137144 frameshift variant -/C delins 0.010 1.000 1 2013 2013
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 1.000 0.080 1 156137144 frameshift variant -/C delins 0.700 1.000 5 2011 2017
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 1.000 0.080 1 156137144 frameshift variant -/C delins 0.700 1.000 1 2005 2005