Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1444391928
rs1444391928
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		GA 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