rs397515960, MYBPC3

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.
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.925 0.080 11 47337791 frameshift variant -/C delins 0.700 0
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.925 0.080 11 47337791 frameshift variant -/C delins 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.925 0.080 11 47337791 frameshift variant -/C delins 0.700 0