rs199474724, 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.
Emery-Dreifuss Muscular Dystrophy 3
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
4 0.851 0.120 1 156134839 missense variant G/A snv 0.800 1.000 2 2012 2017
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
18 0.851 0.120 1 156134839 missense variant G/A snv 0.700 0
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
2 0.851 0.120 1 156134839 missense variant G/A snv 0.010 1.000 1 2012 2012
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.851 0.120 1 156134839 missense variant G/A snv 0.010 1.000 1 2012 2012