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: rs1569162748
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		0.700 0
dbSNP: rs1569162748
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.700 0
dbSNP: rs1569162748
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.700 0
dbSNP: rs1569162748
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1569162748
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.700 0
dbSNP: rs1569162748
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs1569162748
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 0