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: rs1233811324
rs1233811324
6 43645215 stop gained C/A snv 1.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 1 2014 2014
dbSNP: rs1436804091
rs1436804091
6 43650430 stop gained C/T snv 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs775136764
rs775136764
6 43650369 splice region variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 0
dbSNP: rs397515340
rs397515340
0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.700 1.000 3 2009 2013