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: rs121964856
rs121964856
TNNT2
0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 18 1994 2015
dbSNP: rs121964856
rs121964856
TNNT2
0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 18 1994 2015
dbSNP: rs121964856
rs121964856
TNNT2
0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 18 1994 2015
dbSNP: rs121964856
rs121964856
TNNT2
0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.730 1.000 17 1994 2020
dbSNP: rs45578238
rs45578238
TNNT2
0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 15 2000 2019
dbSNP: rs45578238
rs45578238
TNNT2
0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 13 2000 2013
dbSNP: rs45578238
rs45578238
TNNT2
0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 13 2000 2013
dbSNP: rs45578238
rs45578238
TNNT2
0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.700 1.000 13 2000 2013
dbSNP: rs397516457
rs397516457
TNNT2
0.851 0.080 1 201365291 missense variant C/A;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 12 1999 2017
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: 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: 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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		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: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 10 2001 2015
dbSNP: rs111377893
rs111377893
TNNT2
0.925 0.080 1 201359622 splice donor variant C/A;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 9 1994 2011
dbSNP: rs397516470
rs397516470
TNNT2
0.851 0.080 1 201363377 inframe deletion CTC/- delins
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.700 1.000 9 1995 2016
dbSNP: rs397516470
rs397516470
TNNT2
0.851 0.080 1 201363377 inframe deletion CTC/- delins
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 9 1995 2016
dbSNP: rs397516470
rs397516470
TNNT2
0.851 0.080 1 201363377 inframe deletion CTC/- delins
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 9 1995 2016
dbSNP: rs121964855
rs121964855
TNNT2
0.851 0.080 1 201365638 missense variant A/T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 1994 2008
dbSNP: rs121964855
rs121964855
TNNT2
0.851 0.080 1 201365638 missense variant A/T snv 4.0E-06
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 8 1994 2013
dbSNP: rs121964855
rs121964855
TNNT2
0.851 0.080 1 201365638 missense variant A/T snv 4.0E-06
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 8 1994 2013
dbSNP: rs121964855
rs121964855
TNNT2
0.851 0.080 1 201365638 missense variant A/T snv 4.0E-06
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 8 1994 2013
dbSNP: rs397516457
rs397516457
TNNT2
0.851 0.080 1 201365291 missense variant C/A;T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 8 1991 2017
dbSNP: rs397516457
rs397516457
TNNT2
0.851 0.080 1 201365291 missense variant C/A;T snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 8 1991 2017
dbSNP: rs397516457
rs397516457
TNNT2
0.851 0.080 1 201365291 missense variant C/A;T snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 8 1991 2017