rs397516354, TNNI3

N. diseases: 7
Source: CLINVAR ×
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, 7
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
12 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.800 1.000 5 1997 2012
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 22 1997 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 17 1997 2017
Cardiomyopathy, Dilated, 1FF
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
5 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 5 2003 2012
CARDIOMYOPATHY, DILATED, 2A (disorder)
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
2 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 5 2003 2012
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
10 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 5 2003 2012
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
172 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 0