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.
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
Restrictive ventilatory defect
CUI: C3277226
Disease: Restrictive ventilatory defect
8 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
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
Syncope
CUI: C0039070
Disease: Syncope
45 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