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: rs876657637
rs876657637
DNAL1
1.000 14 73671556 frameshift variant TATCTTT/- delins 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		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