rs61672878, LMNA

N. diseases: 3
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 0.776 0.200 1 156136094 missense variant G/A;T snv 0.710 1.000 0 2004 2004
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
138 0.776 0.200 1 156136094 missense variant G/A;T snv 0.700 1.000 11 2000 2016
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
48 0.776 0.200 1 156136094 missense variant G/A;T snv 0.700 0