rs104894724, TNNI3

N. diseases: 8
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, FAMILIAL RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
24 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.810 1.000 2 2003 2016
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
15 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.800 1.000 9 1997 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.740 1.000 30 1997 2016
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.730 1.000 17 1997 2017
Restrictive cardiomyopathy
CUI: C0007196
Disease: Restrictive cardiomyopathy
30 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2009 2016
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2003 2003
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008