rs397516456, TNNT2

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, Familial Hypertrophic, 2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
30 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.800 1.000 22 1994 2016
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.710 1.000 22 1996 2016
CARDIOMYOPATHY, DILATED, 1D (disorder)
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
24 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 11 1994 2016
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
21 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 11 1994 2016
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
355 0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 6 1996 2003