Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771663107
rs771663107
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013
dbSNP: rs771663107
rs771663107
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009