rs397516059, MYBPC3

N. diseases: 5
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, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 1.000 1 2009 2009
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 0
Familial dilated cardiomyopathy
CUI: C0340427
Disease: Familial dilated cardiomyopathy
47 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 0
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
145 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 0