Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863223325
rs863223325
0.925 0.160 12 48918751 frameshift variant AT/- delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2013 2015