rs397516005, 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.
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.760 1.000 6 2002 2019
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.700 1.000 4 2002 2017
Familial Hypertrophic Cardiomyopathy Type 4
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
145 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.700 0
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
67 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.040 1.000 4 2015 2019
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.020 1.000 2 2015 2019