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: rs267607225
rs267607225
DNAAF1
1.000 0.120 16 84159744 stop gained C/T snv 1.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2009 2009
dbSNP: rs267607225
rs267607225
DNAAF1
1.000 0.120 16 84159744 stop gained C/T snv 1.6E-05
CUI: C2750790
Disease: CILIARY DYSKINESIA, PRIMARY, 13
CILIARY DYSKINESIA, PRIMARY, 13 		0.700 0