Source: CLINVAR

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: rs397517750
rs397517750
TTN ; TTN-AS1
2 178552121 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs752856716
rs752856716
TTN ; TTN-AS1
2 178632349 frameshift variant -/A delins 1.3E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs755261062
rs755261062
TTN ; TTN-AS1
2 178592593 frameshift variant -/A delins 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025552
rs869025552
TTN ; TTN-AS1
2 178602411 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025557
rs869025557
TTN ; TTN-AS1
2 178576604 frameshift variant -/A delins 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312082
rs869312082
TTN ; TTN-AS1
2 178552577 frameshift variant -/A ins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312122
rs869312122
TTN ; TTN-AS1
1.000 0.120 2 178535516 frameshift variant -/A ins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs876657673
rs876657673
TTN ; TTN-AS1
2 178739618 frameshift variant -/A delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312049
rs869312049
TTN ; TTN-AS1
2 178609274 frameshift variant -/AA delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553742630
rs1553742630
TTN ; TTN-AS1
1.000 0.080 2 178633900 frameshift variant -/C ins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2015 2015
dbSNP: rs869312063
rs869312063
TTN ; TTN-AS1
2 178553149 frameshift variant -/C delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312107
rs869312107
TTN ; TTN-AS1
2 178618314 frameshift variant -/CA delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs730880343
rs730880343
TTN ; TTN-AS1
2 178568710 frameshift variant -/G delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2014 2014
dbSNP: rs869312083
rs869312083
TTN ; TTN-AS1
2 178546865 frameshift variant -/G delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs876657666
rs876657666
TTN ; TTN-AS1
0.925 0.160 2 178588815 frameshift variant -/G delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312067
rs869312067
TTN ; TTN-AS1
2 178539796 frameshift variant -/GTTT delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312116
rs869312116
TTN ; TTN-AS1
2 178571248 frameshift variant -/GTTT delins 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553741321
rs1553741321
TTN ; TTN-AS1
2 178633304 frameshift variant -/T delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs397517626
rs397517626
TTN ; TTN-AS1
1.000 0.040 2 178598977 frameshift variant -/T delins 4.1E-06 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs730880365
rs730880365
TTN ; TTN-AS1
1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs774604740
rs774604740
TTN ; TTN-AS1
1.000 0.040 2 178570016 frameshift variant -/T delins 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025556
rs869025556
TTN ; TTN-AS1
2 178740362 frameshift variant -/T delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869025558
rs869025558
TTN ; TTN-AS1
2 178570817 frameshift variant -/T delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312045
rs869312045
TTN ; TTN-AS1
2 178620853 frameshift variant -/T delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs869312056
rs869312056
TTN ; TTN-AS1
2 178571825 frameshift variant -/T delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0