rs121913624, 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 0.851 0.080 14 23429278 missense variant C/A;G;T snv 0.800 1.000 76 1961 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.080 14 23429278 missense variant C/A;G;T snv 0.740 1.000 26 1990 2018
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.851 0.080 14 23429278 missense variant C/A;G;T snv 0.710 1.000 14 1990 2018
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.851 0.080 14 23429278 missense variant C/A;G;T snv 0.030 1.000 3 2014 2018