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: rs104894724
rs104894724
TNNI3
0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		0.810 1.000 0 2003 2016
dbSNP: rs104894729
rs104894729
TNNI3
0.827 0.080 19 55151892 missense variant C/A;G;T snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		0.810 1.000 0 2003 2010
dbSNP: rs104894730
rs104894730
TNNI3
1.000 0.040 19 55154047 missense variant T/C snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		0.810 1.000 0 2003 2005
dbSNP: rs121917760
rs121917760
TNNI3
0.925 0.040 19 55154148 missense variant A/G;T snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		0.810 1.000 0 2003 2016
dbSNP: rs397516354
rs397516354
TNNI3
0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 1.000 5 1997 2012
dbSNP: rs104894724
rs104894724
TNNI3
0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 1.000 0 1997 2017
dbSNP: rs104894725
rs104894725
TNNI3
0.882 0.080 19 55151851 missense variant T/C;G snv
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 1.000 0 1997 2017
dbSNP: rs104894727
rs104894727
TNNI3
0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 1.000 0 1997 2017
dbSNP: rs267607129
rs267607129
TNNI3
0.925 0.040 19 55151912 missense variant G/C snv
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
Cardiomyopathy, Dilated, 1FF 		0.800 1.000 0 2009 2012
dbSNP: rs267607130
rs267607130
TNNI3
0.925 0.040 19 55157052 missense variant T/G snv
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
Cardiomyopathy, Dilated, 1FF 		0.800 1.000 0 2009 2012
dbSNP: rs397516353
rs397516353
TNNI3
0.882 0.080 19 55154109 missense variant G/A snv
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 1.000 0 1997 2017
dbSNP: rs727504242
rs727504242
TNNI3
0.925 0.080 19 55154082 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.800 1.000 0 2011 2017
dbSNP: rs104894724
rs104894724
TNNI3
0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.740 1.000 28 1997 2016
dbSNP: rs104894724
rs104894724
TNNI3
0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.730 1.000 14 1997 2017
dbSNP: rs368861241
rs368861241
TNNI3
0.851 0.120 19 55154095 missense variant G/A snv 4.0E-05 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.720 1.000 14 1997 2017
dbSNP: rs104894729
rs104894729
TNNI3
0.827 0.080 19 55151892 missense variant C/A;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 13 2003 2013
dbSNP: rs104894729
rs104894729
TNNI3
0.827 0.080 19 55151892 missense variant C/A;G;T snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.710 1.000 11 2003 2013
dbSNP: rs397516357
rs397516357
TNNI3
0.851 0.120 19 55151910 missense variant C/T snv 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 0.909 11 2003 2017
dbSNP: rs727503503
rs727503503
TNNI3
0.827 0.120 19 55154070 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 2 2007 2016
dbSNP: rs397516354
rs397516354
TNNI3
0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 22 1997 2017
dbSNP: rs397516354
rs397516354
TNNI3
0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 17 1997 2017
dbSNP: rs397516353
rs397516353
TNNI3
0.882 0.080 19 55154109 missense variant G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 12 2003 2017
dbSNP: rs397516347
rs397516347
TNNI3
0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 2003 2017
dbSNP: rs397516347
rs397516347
TNNI3
0.851 0.120 19 55154157 missense variant C/T snv 4.2E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 11 2003 2014
dbSNP: rs104894729
rs104894729
TNNI3
0.827 0.080 19 55151892 missense variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 10 2003 2015