rs730880336, 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.
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.925 0.040 11 47346254 frameshift variant -/TGCCG delins 4.0E-06 0.700 1.000 1 2005 2005
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.925 0.040 11 47346254 frameshift variant -/TGCCG delins 4.0E-06 0.700 0
Left ventricular noncompaction
CUI: C1960469
Disease: Left ventricular noncompaction
26 0.925 0.040 11 47346254 frameshift variant -/TGCCG delins 4.0E-06 0.700 0