Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1161303371
rs1161303371
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299

2016