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: rs1560079213
rs1560079213
TTC14 ; CCDC39
3 180616697 splice acceptor variant T/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2011 2013
dbSNP: rs1007345781
rs1007345781
TTC14 ; CCDC39
3 180616604 frameshift variant GT/- delins 8.7E-06 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2013 2013
dbSNP: rs1553800956
rs1553800956
TTC14 ; CCDC39
3 180616551 stop gained C/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0
dbSNP: rs587778821
rs587778821
TTC14 ; CCDC39
3 180616873 frameshift variant TAC/A delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 0