rs878854378, TTN;TTN-AS1

N. diseases: 33
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Atrial Flutter
CUI: C0004239
Disease: Atrial Flutter
2 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Atrial reentry tachycardia
CUI: C4023223
Disease: Atrial reentry tachycardia
2 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Re-entrant atrioventricular tachycardia
CUI: C0340477
Disease: Re-entrant atrioventricular tachycardia
2 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Reduced muscle collagen VI
CUI: C4021054
Disease: Reduced muscle collagen VI
2 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Scapular muscle atrophy
CUI: C3805969
Disease: Scapular muscle atrophy
2 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Abnormal eyelid morphology
CUI: C4021803
Disease: Abnormal eyelid morphology
3 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Muscle Weakness Upper Limb
CUI: C1698196
Disease: Muscle Weakness Upper Limb
3 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Asymmetry of the thorax
CUI: C1858033
Disease: Asymmetry of the thorax
4 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Down-sloping shoulders
CUI: C1856872
Disease: Down-sloping shoulders
4 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Shoulder girdle weakness
CUI: C0427063
Disease: Shoulder girdle weakness
4 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Slowed saccades
CUI: C1321329
Disease: Slowed saccades
4 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Left-Sided Heart Failure
CUI: C0023212
Disease: Left-Sided Heart Failure
5 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Reflex, Ankle, Absent
CUI: C0558845
Disease: Reflex, Ankle, Absent
5 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Respiratory Depression
CUI: C0235063
Disease: Respiratory Depression
5 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Congenital torticollis
CUI: C0079352
Disease: Congenital torticollis
6 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Restrictive ventilatory defect
CUI: C3277226
Disease: Restrictive ventilatory defect
8 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Acne
CUI: C0702166
Disease: Acne
11 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
12 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Difficulty standing
CUI: C0241237
Disease: Difficulty standing
14 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Absent reflex
CUI: C0234146
Disease: Absent reflex
16 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
17 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0