rs60458016, LMNA

N. diseases: 5
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.
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.827 0.120 1 156136036 stop gained G/A;T snv 0.700 1.000 8 2000 2014
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.827 0.120 1 156136036 stop gained G/A;T snv 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.827 0.120 1 156136036 stop gained G/A;T snv 0.700 0
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
19 0.827 0.120 1 156136036 stop gained G/A;T snv 0.700 0
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
18 0.827 0.120 1 156136036 stop gained G/A;T snv 0.010 1.000 1 2011 2011