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: rs745495583
rs745495583
DNAAF1
16 84170124 frameshift variant GGAGATGGAGAGCCAGAGGGGAC/- delins 2.4E-05 5.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2009 2009