Disease: CILIARY DYSKINESIA, PRIMARY, 17 ×
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: rs145457535
rs145457535 		0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.800 1.000 6 2012 2018
dbSNP: rs587776910
rs587776910 		0.925 0.160 17 44902466 frameshift variant -/G delins
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 0