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: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C0702166
Disease: Acne
Acne 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C0702166
Disease: Acne
Acne 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C4023223
Disease: Atrial reentry tachycardia
Atrial reentry tachycardia 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C4023223
Disease: Atrial reentry tachycardia
Atrial reentry tachycardia 		0.700 0
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
0.882 0.120 2 178577785 stop gained G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
0.882 0.120 2 178577785 stop gained G/A snv
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		0.700 0
dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
0.882 0.160 2 178535594 frameshift variant -/GT delins
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0
dbSNP: rs1553644307
rs1553644307
TTN ; TTN-AS1
0.925 0.160 2 178591418 stop gained T/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1553663867
rs1553663867
TTN ; TTN-AS1
0.925 0.160 2 178598969 frameshift variant G/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1553707780
rs1553707780
TTN ; TTN-AS1
0.925 0.040 2 178616928 frameshift variant T/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559051231
rs1559051231
TTN ; TTN-AS1
2 178535728 stop gained C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559192617
rs1559192617
TTN ; TTN-AS1
2 178550977 frameshift variant CTTGTCATAAT/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559262463
rs1559262463
TTN ; TTN-AS1
2 178558000 frameshift variant A/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559448864
rs1559448864
TTN ; TTN-AS1
2 178575386 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559469421
rs1559469421
TTN ; TTN-AS1
2 178577230 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559556267
rs1559556267
TTN ; TTN-AS1
2 178588040 frameshift variant CTGCA/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1559712733
rs1559712733
TTN ; TTN-AS1
2 178604300 splice acceptor variant CCAGATCTAGAAATTAGA/AG delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0