rs730880742, 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.
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.882 0.080 14 23424984 missense variant T/A;C;G snv 0.710 1.000 2 2003 2017
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
163 0.882 0.080 14 23424984 missense variant T/A;C;G snv 0.700 0
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.882 0.080 14 23424984 missense variant T/A;C;G snv 0.010 1.000 1 2003 2003