rs397516074, 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.
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
145 0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05 0.800 1.000 52 1995 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05 0.720 1.000 33 1998 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05 0.700 1.000 19 1998 2014
LEFT VENTRICULAR NONCOMPACTION 10
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
20 0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05 0.700 0
Biventricular hypertrophy
CUI: C0281788
Disease: Biventricular hypertrophy
3 0.827 0.120 11 47348424 missense variant C/T snv 1.7E-05 4.2E-05 0.010 1.000 1 2012 2012