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: rs200488444
rs200488444
DNAI1
1.000 0.160 9 34490011 splice acceptor variant G/C snv 4.1E-04 4.5E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2006 2006
dbSNP: rs200488444
rs200488444
DNAI1
1.000 0.160 9 34490011 splice acceptor variant G/C snv 4.1E-04 4.5E-04
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 0