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: rs267607227
rs267607227
DNAAF1
0.925 0.160 16 84154748 missense variant T/C;G snv
CUI: C2750790
Disease: CILIARY DYSKINESIA, PRIMARY, 13
CILIARY DYSKINESIA, PRIMARY, 13 		0.800 1.000 0 2009 2014
dbSNP: rs267607227
rs267607227
DNAAF1
0.925 0.160 16 84154748 missense variant T/C;G snv
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 1.000 1 2009 2009
dbSNP: rs267607227
rs267607227
DNAAF1
0.925 0.160 16 84154748 missense variant T/C;G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0