rs28933098, MYH7;MHRT

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.
MYOPATHY, MYOSIN STORAGE (disorder)
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
15 0.882 0.160 14 23415021 missense variant G/A;T snv 0.810 1.000 4 2003 2007
X-Linked Emery-Dreifuss Muscular Dystrophy
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
33 0.882 0.160 14 23415021 missense variant G/A;T snv 0.800 1.000 1 2007 2007
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.882 0.160 14 23415021 missense variant G/A;T snv 0.700 1.000 6 2003 2010
Disorder of skeletal muscle
CUI: C1533847
Disease: Disorder of skeletal muscle
10 0.882 0.160 14 23415021 missense variant G/A;T snv 0.010 1.000 1 2003 2003