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 23418249 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 23 1992 2014
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.882 0.080 14 23418249 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 18 2003 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.882 0.080 14 23418249 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 12 2003 2017