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, 13
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
6 0.851 0.080 3 52453993 missense variant G/A snv 7.0E-06 0.800 1.000 5 2001 2011
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.080 3 52453993 missense variant G/A snv 7.0E-06 0.710 1.000 12 2008 2018
Restrictive cardiomyopathy
CUI: C0007196
Disease: Restrictive cardiomyopathy
30 0.851 0.080 3 52453993 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
Septal hypertrophy
CUI: C0442887
Disease: Septal hypertrophy
11 0.851 0.080 3 52453993 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016