TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 78; N. variants: 567
Disease: Cardiomyopathy, Dilated ×
Source: CLINVAR ×
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: rs727504452
rs727504452 		2 178702186 frameshift variant CTGCCGTGCT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 5 2002 2012
dbSNP: rs397517580
rs397517580 		2 178621517 stop gained G/A snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 3 2012 2015
dbSNP: rs727503602
rs727503602 		1.000 0.040 2 178604049 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 3 2012 2015
dbSNP: rs727503607
rs727503607 		0.882 0.160 2 178605642 stop gained C/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 3 2012 2014
dbSNP: rs1064793814
rs1064793814 		2 178559769 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1553742630
rs1553742630 		1.000 0.080 2 178633900 frameshift variant -/C ins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs397517749
rs397517749 		2 178552313 frameshift variant T/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs397517750
rs397517750 		2 178552121 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs397517776
rs397517776 		0.925 0.160 2 178539765 frameshift variant CT/- del 2.1E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs727503546
rs727503546 		2 178547178 frameshift variant TCTT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs727503552
rs727503552 		2 178557838 frameshift variant G/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs727503586
rs727503586 		0.925 0.160 2 178589508 stop gained A/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs727504531
rs727504531 		0.925 0.160 2 178573463 frameshift variant A/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs727504660
rs727504660 		2 178564253 frameshift variant AA/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs727504843
rs727504843 		2 178718815 stop gained C/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs730880343
rs730880343 		2 178568710 frameshift variant -/G delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs794729338
rs794729338 		1.000 0.080 2 178574146 stop gained CATATGC/TA delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs869312037
rs869312037 		2 178770484 frameshift variant CA/- delins 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs112240298
rs112240298 		2 178538945 splice donor variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553479603
rs1553479603 		2 178528524 splice donor variant ACTGGCAGGTTGTTTTTAAACCATTCGATT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553577362
rs1553577362 		2 178564611 frameshift variant G/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553603152
rs1553603152 		1.000 0.040 2 178570586 stop gained G/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553603456
rs1553603456 		2 178570689 frameshift variant C/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553607425
rs1553607425 		2 178572745 frameshift variant C/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553691320
rs1553691320 		2 178609440 frameshift variant T/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0