rs104894727, 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 HYPERTROPHIC, 7
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
12 0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06 0.800 1.000 0 1997 2017
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
332 0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06 0.700 1.000 7 2002 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06 0.700 1.000 4 2002 2016
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
172 0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06 0.700 0