DNAAF2, dynein axonemal assembly factor 2, 55172

N. diseases: 44; N. variants: 15
Disease: CILIARY DYSKINESIA, PRIMARY, 10 ×
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: rs397515341
rs397515341 		0.925 0.160 14 49633935 frameshift variant -/CCACGCAGGTATCGTG delins 7.8E-06; 7.8E-06 2.8E-05
CUI: C2675867
Disease: CILIARY DYSKINESIA, PRIMARY, 10
CILIARY DYSKINESIA, PRIMARY, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0