Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515540
rs397515540
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014

dbSNP: rs397515540
rs397515540
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013

dbSNP: rs397515540
rs397515540
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. 22416021

2012

dbSNP: rs397515540
rs397515540
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006