rs397515912, 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 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05 0.700 1.000 20 2006 2017
Wolff-Parkinson-White Syndrome, CTCAE
CUI: C1963282
Disease: Wolff-Parkinson-White Syndrome, CTCAE
2 0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05 0.700 1.000 20 2006 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.925 0.080 11 47342611 missense variant C/A;G;T snv 1.2E-05; 3.2E-05 0.700 1.000 8 2008 2017