rs201278114, 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.
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
145 0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04 0.700 1.000 20 1995 2017
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
67 0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04 0.700 1.000 1 2016 2016
Sudden death
CUI: C0011071
Disease: Sudden death
3 0.925 0.120 11 47352635 missense variant C/A;G snv 4.3E-06; 3.0E-04 0.700 1.000 1 2016 2016