rs2754158, MYH7

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.
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
163 0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05 0.800 1.000 17 2004 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 16 2004 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 8 2004 2017
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05 0.700 0