rs727503503, TNNI3

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 19 55154070 missense variant C/T snv 0.710 1.000 3 2007 2016
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.827 0.120 19 55154070 missense variant C/T snv 0.700 1.000 3 2009 2017
Restrictive cardiomyopathy
CUI: C0007196
Disease: Restrictive cardiomyopathy
30 0.827 0.120 19 55154070 missense variant C/T snv 0.700 1.000 2 2007 2009
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
24 0.827 0.120 19 55154070 missense variant C/T snv 0.010 1.000 1 2016 2016
Ventricular hypertrophy
CUI: C0340279
Disease: Ventricular hypertrophy
9 0.827 0.120 19 55154070 missense variant C/T snv 0.010 1.000 1 2016 2016