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: rs45586240
rs45586240
TNNT2
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.700 1.000 3 2009 2017
dbSNP: rs45586240
rs45586240
TNNT2
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 3 2009 2017
dbSNP: rs45586240
rs45586240
TNNT2
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 3 2009 2017
dbSNP: rs45586240
rs45586240
TNNT2
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs45586240
rs45586240
TNNT2
0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0