rs397516347, 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, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05 0.700 1.000 11 2003 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05 0.700 1.000 11 2003 2014
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
15 0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05 0.700 1.000 5 1997 2005
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05 0.700 0
Asymmetric Septal Hypertrophy
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
7 0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05 0.010 1.000 1 2012 2012