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: rs201133219
rs201133219
CCDC114
1.000 19 48297995 splice region variant C/T snv 8.0E-05 7.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2013 2013
dbSNP: rs201133219
rs201133219
CCDC114
1.000 19 48297995 splice region variant C/T snv 8.0E-05 7.0E-05
CUI: C3540844
Disease: CILIARY DYSKINESIA, PRIMARY, 20
CILIARY DYSKINESIA, PRIMARY, 20 		0.700 0