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: rs752924362
rs752924362
DNAI2
1.000 0.160 17 74309345 stop gained G/A;C snv 1.6E-04; 4.0E-06
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.700 1.000 3 2013 2015
dbSNP: rs752924362
rs752924362
DNAI2
1.000 0.160 17 74309345 stop gained G/A;C snv 1.6E-04; 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2013 2015