rs145734640, MHRT;MYH7

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.
Myopathy, Hyaline Body, Autosomal Recessive
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
11 0.925 0.080 14 23415096 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 4.0E-06 0.800 1.000 1 2015 2015
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.925 0.080 14 23415096 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 4.0E-06 0.010 1.000 1 2015 2015
MYOPATHY, MYOSIN STORAGE (disorder)
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
15 0.925 0.080 14 23415096 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 4.0E-06 0.010 1.000 1 2015 2015