rs104894729, 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.
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
24 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.810 1.000 2 2003 2010
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.710 1.000 13 2003 2013
Restrictive cardiomyopathy
CUI: C0007196
Disease: Restrictive cardiomyopathy
30 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.710 1.000 11 2003 2013
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.700 1.000 10 2003 2015
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.010 1.000 1 2005 2005