Source: CURATED

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: rs1553485330
rs1553485330
TTN ; TTN-AS1
2 178531129 frameshift variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1991 2014
dbSNP: rs727504452
rs727504452
TTN ; TTN-AS1
2 178702186 frameshift variant CTGCCGTGCT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 5 2002 2012
dbSNP: rs397517580
rs397517580
TTN ; TTN-AS1
2 178621517 stop gained G/A snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 3 2012 2015
dbSNP: rs1064793814
rs1064793814
TTN ; TTN-AS1
2 178559769 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs1489486
rs1489486
TTN
2 178820256 intron variant A/G snv 0.83
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs200655768
rs200655768
TTN ; TTN-AS1
2 178711222 synonymous variant G/A;T snv
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.700 1.000 1 2017 2017
dbSNP: rs35770984
rs35770984
TTN ; TTN-AS1
2 178761353 intron variant T/A snv 0.27
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs397517587
rs397517587
TTN ; TTN-AS1
2 178618768 stop gained G/A;T snv 4.1E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs397517664
rs397517664
TTN ; TTN-AS1
2 178581650 stop gained G/T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs397517749
rs397517749
TTN ; TTN-AS1
2 178552313 frameshift variant T/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2006 2006
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: rs55863869
rs55863869
TTN
2 178782819 synonymous variant A/G snv 8.2E-02 5.1E-02
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2017 2017
dbSNP: rs727503546
rs727503546
TTN ; TTN-AS1
2 178547178 frameshift variant TCTT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2013 2013
dbSNP: rs727503552
rs727503552
TTN ; TTN-AS1
2 178557838 frameshift variant G/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs727504660
rs727504660
TTN ; TTN-AS1
2 178564253 frameshift variant AA/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
dbSNP: rs727504843
rs727504843
TTN ; TTN-AS1
2 178718815 stop gained C/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2012 2012
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: rs7561149
rs7561149
TTN ; CCDC141
2 178825129 intron variant T/C snv 0.33
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2014 2014
dbSNP: rs869312037
rs869312037
TTN ; TTN-AS1
2 178770484 frameshift variant CA/- delins 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2015 2015
dbSNP: rs922984
rs922984
TTN ; TTN-AS1
2 178751160 missense variant T/C snv 0.82 0.80
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2018 2018
dbSNP: rs1057518851
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs112240298
rs112240298
TTN ; TTN-AS1
2 178538945 splice donor variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1198364572
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1408345511
rs1408345511
TTN ; TTN-AS1
2 178740175 frameshift variant G/- delins 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1553479603
rs1553479603
TTN ; TTN-AS1
2 178528524 splice donor variant ACTGGCAGGTTGTTTTTAAACCATTCGATT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0