TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 ×
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: rs574660186
rs574660186 		0.807 0.200 2 178579702 stop gained G/A;C snv 1.6E-05 3.5E-05
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1213930919
rs1213930919 		0.882 0.120 2 178577785 stop gained G/A snv
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1553543413
rs1553543413 		0.807 0.200 2 178553783 frameshift variant -/T delins
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs794729340
rs794729340 		0.807 0.200 2 178570991 frameshift variant TCTT/- delins
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs869178171
rs869178171 		0.790 0.200 2 178563475 stop gained C/A snv
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs869312099
rs869312099 		0.807 0.200 2 178738361 splice acceptor variant C/T snv 4.1E-06 1.4E-05
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0