Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1233811324
rs1233811324
RSPH9
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014