rs267607124, TNNC1

N. diseases: 6
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, 13
CUI: C2750472
Disease: Cardiomyopathy, Familial Hypertrophic, 13
6 0.807 0.080 3 52451410 missense variant G/A;C;T snv 4.0E-05; 4.0E-06; 1.3E-04 0.700 1.000 5 2001 2011
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.807 0.080 3 52451410 missense variant G/A;C;T snv 4.0E-05; 4.0E-06; 1.3E-04 0.060 1.000 6 2008 2017
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.807 0.080 3 52451410 missense variant G/A;C;T snv 4.0E-05; 4.0E-06; 1.3E-04 0.040 1.000 4 2009 2017
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.807 0.080 3 52451410 missense variant G/A;C;T snv 4.0E-05; 4.0E-06; 1.3E-04 0.010 1.000 1 2011 2011
Restrictive cardiomyopathy
CUI: C0007196
Disease: Restrictive cardiomyopathy
30 0.807 0.080 3 52451410 missense variant G/A;C;T snv 4.0E-05; 4.0E-06; 1.3E-04 0.010 1.000 1 2016 2016
Septal hypertrophy
CUI: C0442887
Disease: Septal hypertrophy
11 0.807 0.080 3 52451410 missense variant G/A;C;T snv 4.0E-05; 4.0E-06; 1.3E-04 0.010 1.000 1 2016 2016