rs28928901, 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.
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
74 0.882 0.120 1 156134829 missense variant C/T snv 0.700 0
Emery-Dreifuss Muscular Dystrophy 3
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
4 0.882 0.120 1 156134829 missense variant C/T snv 0.700 0
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
18 0.882 0.120 1 156134829 missense variant C/T snv 0.700 0