TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
Disease: Cardiomyopathy, Dilated, 1g ×
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: rs1553705079
rs1553705079 		0.925 0.160 2 178615486 splice acceptor variant T/G snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 5 2007 2015
dbSNP: rs281864927
rs281864927 		0.882 0.160 2 178527198 missense variant CCATGTTACTT/TTTTTCTTTCA mnv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 5 2002 2015
dbSNP: rs753798236
rs753798236 		0.925 0.160 2 178608479 splice acceptor variant T/G snv 2.1E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 5 2007 2015
dbSNP: rs1553712292
rs1553712292 		0.925 0.160 2 178618706 frameshift variant -/T delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 4 2012 2015
dbSNP: rs794729265
rs794729265 		0.925 0.160 2 178612355 stop gained G/A snv 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 4 2013 2017
dbSNP: rs869312112
rs869312112 		0.925 0.160 2 178590230 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 4 2012 2017
dbSNP: rs876658102
rs876658102 		0.925 0.160 2 178528527 splice donor variant C/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 4 2008 2015
dbSNP: rs1060500435
rs1060500435 		0.925 0.160 2 178546612 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2013 2017
dbSNP: rs1260821931
rs1260821931 		0.925 0.160 2 178535729 stop gained C/T snv 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2008 2014
dbSNP: rs1553488049
rs1553488049 		0.925 0.160 2 178532100 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2008 2014
dbSNP: rs1553491220
rs1553491220 		0.925 0.160 2 178533097 frameshift variant A/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2008 2014
dbSNP: rs1553491793
rs1553491793 		0.925 0.160 2 178533279 frameshift variant T/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2008 2014
dbSNP: rs1559003939
rs1559003939 		0.925 0.160 2 178531844 stop gained G/T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2008 2014
dbSNP: rs1559031280
rs1559031280 		0.925 0.160 2 178533896 frameshift variant GT/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2008 2014
dbSNP: rs1559050685
rs1559050685 		0.925 0.160 2 178535671 frameshift variant TCT/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2008 2014
dbSNP: rs1559175090
rs1559175090 		0.925 0.160 2 178548967 frameshift variant AGATCAGT/- delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2013 2017
dbSNP: rs727503607
rs727503607 		0.882 0.160 2 178605642 stop gained C/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2013 2015
dbSNP: rs727504531
rs727504531 		0.925 0.160 2 178573463 frameshift variant A/- del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2012 2015
dbSNP: rs794729305
rs794729305 		0.925 0.160 2 178535388 stop gained G/A snv 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2008 2014
dbSNP: rs869025545
rs869025545 		0.925 0.160 2 178566448 stop gained G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2013 2015
dbSNP: rs886044460
rs886044460 		0.925 0.160 2 178530477 frameshift variant -/A delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 3 2008 2014
dbSNP: rs1060500589
rs1060500589 		0.925 0.160 2 178533817 frameshift variant ATT/TATA delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 2 2013 2014
dbSNP: rs1064792916
rs1064792916 		0.925 0.160 2 178559829 frameshift variant GCCTTGACAATCAA/T delins
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 2 2013 2015
dbSNP: rs1064794266
rs1064794266 		0.925 0.160 2 178607400 splice donor variant C/A;T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 2 2013 2015
dbSNP: rs1064794472
rs1064794472 		0.925 0.160 2 178553784 frameshift variant -/A ins 7.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		Cardiovascular Diseases 0.700 1.000 2 2013 2015