rs104894503, TPM1

N. diseases: 9
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 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 28 1994 2019
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
CUI: C1861863
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
7 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 10 1994 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.740 1.000 14 1994 2015
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.070 1.000 7 2000 2011
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.030 1.000 3 1994 2012
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
67 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.020 1.000 2 2007 2019
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2004 2004
Hypertrophic cardiomyopathy without obstruction
CUI: C0340425
Disease: Hypertrophic cardiomyopathy without obstruction
3 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2008 2008
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
37 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2004 2004