DNAAF3, dynein axonemal assembly factor 3, 352909

N. diseases: 84; N. variants: 11
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder) ×
Source: ALL
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: rs397515395
rs397515395 		0.925 0.160 19 55161684 frameshift variant -/A delins 7.3E-06; 7.3E-06
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0