TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: Hypertrophic obstructive cardiomyopathy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607128
rs267607128 		0.882 0.040 19 55157097 missense variant G/A snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.020 1.000 2 2012 2015
dbSNP: rs104894724
rs104894724 		0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs104894729
rs104894729 		0.827 0.080 19 55151892 missense variant C/A;G;T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs730881082
rs730881082 		0.925 0.040 19 55151850 missense variant T/A snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs747522089
rs747522089 		1.000 0.040 19 55154820 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs77615401
rs77615401 		0.925 0.040 19 55156239 missense variant G/A snv 1.4E-03 6.8E-03
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2008 2008