rs104894724, TNNI3

N. diseases: 4
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 RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
10 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.810 1.000 0 2003 2016
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
12 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.800 1.000 0 1997 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.740 1.000 28 1997 2016
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.730 1.000 14 1997 2017