rs397516037, MYBPC3

N. diseases: 4
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.
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 0.700 1.000 5 2001 2011
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 0.700 1.000 5 2001 2008
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
145 0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 0.700 0
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
67 0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 0.700 0