TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: Hyperlipoproteinemia Type IIa ×
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: rs104894724
rs104894724 		0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs267607127
rs267607127 		0.882 0.120 19 55151860 missense variant C/T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs368861241
rs368861241 		0.851 0.120 19 55154095 missense variant G/A snv 4.0E-05 7.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003