rs727503166, MYBPC3

N. diseases: 5
Source: CLINVAR ×
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
332 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 1.000 9 2008 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 1.000 1 2009 2009
Left ventricular noncompaction
CUI: C1960469
Disease: Left ventricular noncompaction
19 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 1.000 1 2009 2009
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
172 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 0
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
96 0.851 0.080 11 47332110 frameshift variant T/- del 0.700 0