Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143740376
rs143740376
CFAP298 ; CFAP298-TCP10L
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
dbSNP: rs143740376
rs143740376
CFAP298 ; CFAP298-TCP10L
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26 		A 0.700 CausalMutation CLINVAR

dbSNP: rs143740376
rs143740376
CFAP298 ; CFAP298-TCP10L
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		A 0.700 CausalMutation CLINVAR