Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204043
rs118204043
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
T 0.700 CausalMutation CLINVAR Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. 22448264

2012

dbSNP: rs118204043
rs118204043
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
T 0.700 CausalMutation CLINVAR Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 19200523

2009