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: 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: rs727504275
rs727504275
TNNI3
0.925 0.040 19 55151856 missense variant C/A;T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 5 2005 2010
dbSNP: rs727504243
rs727504243
TNNI3
1.000 0.040 19 55151857 missense variant G/A;T snv 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs267607127
rs267607127
TNNI3
0.882 0.120 19 55151860 missense variant C/T snv
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.700 0
dbSNP: rs727504365
rs727504365
TNNI3
1.000 0.040 19 55151865 missense variant A/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 1 2011 2011
dbSNP: rs727504285
rs727504285
TNNI3
1.000 0.080 19 55151875 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2005 2017
dbSNP: rs104894727
rs104894727
TNNI3
0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2002 2017
dbSNP: rs104894727
rs104894727
TNNI3
0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 4 2002 2016
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: rs104894727
rs104894727
TNNI3
0.882 0.080 19 55151881 missense variant C/A;T snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
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: 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
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: rs727503499
rs727503499
TNNI3
1.000 0.040 19 55151893 missense variant G/A snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 1.000 2 2010 2011
dbSNP: rs104894728
rs104894728
TNNI3
0.925 0.040 19 55151898 missense variant T/C snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		0.700 0
dbSNP: rs104894728
rs104894728
TNNI3
0.925 0.040 19 55151898 missense variant T/C snv
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.700 0
dbSNP: rs727503500
rs727503500
TNNI3
1.000 0.040 19 55151899 missense variant C/A snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 1 2003 2003
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: rs397516357
rs397516357
TNNI3
0.851 0.120 19 55151910 missense variant C/T snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 2003 2017
dbSNP: rs397516357
rs397516357
TNNI3
0.851 0.120 19 55151910 missense variant C/T snv 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
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: rs397516356
rs397516356
TNNI3
19 55151917 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs397516355
rs397516355
TNNI3
19 55154035 stop gained C/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2017
dbSNP: rs397516351
rs397516351
TNNI3
0.925 0.080 19 55154045 inframe deletion TTC/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2003 2017