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: rs147718607
rs147718607
CCDC114
0.925 0.160 19 48303953 missense variant C/T snv 2.4E-04 2.2E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2013 2013
dbSNP: rs147718607
rs147718607
CCDC114
0.925 0.160 19 48303953 missense variant C/T snv 2.4E-04 2.2E-04
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 1.000 2 2013 2013
dbSNP: rs147718607
rs147718607
CCDC114
0.925 0.160 19 48303953 missense variant C/T snv 2.4E-04 2.2E-04
CUI: C3540844
Disease: CILIARY DYSKINESIA, PRIMARY, 20
CILIARY DYSKINESIA, PRIMARY, 20 		0.700 0