Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74315379
rs74315379
TNNT2
0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.800 1.000 12 2000 2017
dbSNP: rs74315379
rs74315379
TNNT2
0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.720 1.000 12 2001 2016
dbSNP: rs74315379
rs74315379
TNNT2
0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 12 2001 2013
dbSNP: rs74315379
rs74315379
TNNT2
0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 10 2001 2015
dbSNP: rs74315379
rs74315379
TNNT2
0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.700 1.000 10 2001 2015