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: rs387907021
rs387907021
DNAL1
0.925 0.160 14 73689432 missense variant A/G snv
CUI: C3151460
Disease: CILIARY DYSKINESIA, PRIMARY, 16
CILIARY DYSKINESIA, PRIMARY, 16 		0.800 1.000 0 2011 2011
dbSNP: rs387907021
rs387907021
DNAL1
0.925 0.160 14 73689432 missense variant A/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 2011 2011
dbSNP: rs387907021
rs387907021
DNAL1
0.925 0.160 14 73689432 missense variant A/G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0