rs200754249, TNNT2

N. diseases: 4
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 Hypertrophic, 2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
30 0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06 0.700 1.000 13 1994 2012
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06 0.010 1.000 1 2012 2012
Restrictive cardiomyopathy
CUI: C0007196
Disease: Restrictive cardiomyopathy
30 0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06 0.010 1.000 1 2016 2016
Septal hypertrophy
CUI: C0442887
Disease: Septal hypertrophy
11 0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06 0.010 1.000 1 2016 2016