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: 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: rs149061352
rs149061352
TTN
1.000 0.080 2 178785717 missense variant G/A;T snv 4.4E-05; 4.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs751398376
rs751398376
TTN ; TTN-AS1
1.000 0.080 2 178609836 missense variant C/A;G snv 1.2E-05; 4.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		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: rs2288327
rs2288327
TTN ; TTN-AS1
1.000 0.080 2 178546938 intron variant A/G snv 0.23 0.22
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.700 1.000 3 2018 2018
dbSNP: rs12614435
rs12614435
TTN ; TTN-AS1
1.000 0.080 2 178624999 intron variant A/G snv 0.18
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.700 1.000 1 2018 2018
dbSNP: rs35504893
rs35504893
TTN ; TTN-AS1
1.000 0.080 2 178556567 non coding transcript exon variant C/T snv 0.24
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.700 1.000 1 2018 2018
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: rs397517792
rs397517792
TTN ; TTN-AS1
1.000 0.120 2 178764802 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		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