rs267607571, 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 0.882 0.160 1 156134458 missense variant G/A;T snv 0.700 1.000 17 1999 2012
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.882 0.160 1 156134458 missense variant G/A;T snv 0.700 1.000 7 2002 2017
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.882 0.160 1 156134458 missense variant G/A;T snv 0.700 1.000 2 2012 2017
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.882 0.160 1 156134458 missense variant G/A;T snv 0.700 0