rs59332535, LMNA

N. diseases: 5
Source: CURATED ×
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.
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
71 0.827 0.160 1 156134911 missense variant G/A snv 0.700 1.000 13 2000 2014
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
138 0.827 0.160 1 156134911 missense variant G/A snv 0.700 1.000 5 2000 2014
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
49 0.827 0.160 1 156134911 missense variant G/A snv 0.700 0
Charcot-Marie-Tooth disease, Type 2B1
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
6 0.827 0.160 1 156134911 missense variant G/A snv 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
48 0.827 0.160 1 156134911 missense variant G/A snv 0.700 0