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: rs397515340
rs397515340
0.923 0.143 6 43670919 inframe deletion AGAA/A in-del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 4 2009 2017
dbSNP: rs775136764
rs775136764
6 43650369 splice region variant T/A,C snp 4.0E-06; 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1 2017 2017