rs1569162748, OFD1

N. diseases: 7
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.
Bronchiectasis
CUI: C0006267
Disease: Bronchiectasis
15 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0
Ciliary Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
402 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0
Recurrent respiratory infections
CUI: C3806482
Disease: Recurrent respiratory infections
7 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0
Situs inversus totalis
CUI: C4551493
Disease: Situs inversus totalis
8 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0