Source: ALL

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: rs730881116
rs730881116
TNNT2
0.851 0.080 1 201359216 stop gained C/T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.700 1.000 4 2003 2013
dbSNP: rs730881116
rs730881116
TNNT2
0.851 0.080 1 201359216 stop gained C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 4 2003 2013
dbSNP: rs730881116
rs730881116
TNNT2
0.851 0.080 1 201359216 stop gained C/T snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.700 1.000 4 2003 2013
dbSNP: rs730881116
rs730881116
TNNT2
0.851 0.080 1 201359216 stop gained C/T snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.700 1.000 4 2003 2013