rs397516042, 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.
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 0.700 1.000 4 2008 2013
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 0.700 1.000 3 2008 2013
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
145 0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 0.700 0
LEFT VENTRICULAR NONCOMPACTION 10
CUI: C3715165
Disease: LEFT VENTRICULAR NONCOMPACTION 10
20 0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 0.700 0
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 0.700 0