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: rs387907152
rs387907152
DNAAF3
0.925 0.160 19 55165427 stop gained G/A snv 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2012 2012
dbSNP: rs387907152
rs387907152
DNAAF3
0.925 0.160 19 55165427 stop gained G/A snv 7.0E-06
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 0
dbSNP: rs387907152
rs387907152
DNAAF3
0.925 0.160 19 55165427 stop gained G/A snv 7.0E-06
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		0.700 0