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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 18 1994 2015
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: rs397516456
rs397516456
TNNT2
0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 11 1994 2016
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: 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
dbSNP: rs397516463
rs397516463
TNNT2
0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 7 1994 2014
dbSNP: rs74315380
rs74315380
TNNT2
0.851 0.080 1 201364366 missense variant G/A;C snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.800 1.000 7 2000 2017
dbSNP: rs397516484
rs397516484
TNNT2
0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 6 1994 2014
dbSNP: rs727504245
rs727504245
TNNT2
0.851 0.080 1 201365261 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 5 1997 2017
dbSNP: rs727504246
rs727504246
TNNT2
0.827 0.080 1 201363330 missense variant G/A snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 4 2000 2017
dbSNP: rs121964860
rs121964860
TNNT2
0.882 0.080 1 201361988 missense variant C/A;G;T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.800 1.000 1 2000 2017
dbSNP: rs121964857
rs121964857
TNNT2
0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 0 1994 2012
dbSNP: rs121964858
rs121964858
TNNT2
0.807 0.120 1 201365244 missense variant A/C;G;T snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 0 1994 2012
dbSNP: rs863225119
rs863225119
TNNT2
0.882 0.080 1 201359632 missense variant T/A snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.800 1.000 0 2011 2011
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: 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: rs74315380
rs74315380
TNNT2
0.851 0.080 1 201364366 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.720 1.000 6 2003 2016
dbSNP: rs397516456
rs397516456
TNNT2
0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 21 1996 2016
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: rs727504246
rs727504246
TNNT2
0.827 0.080 1 201363330 missense variant G/A snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 3 2000 2004
dbSNP: rs121964857
rs121964857
TNNT2
0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 0 2003 2003
dbSNP: rs727504245
rs727504245
TNNT2
0.851 0.080 1 201365261 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.710 1.000 0 1997 1997
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: 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