Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775696136
rs775696136
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
TA 0.700 GeneticVariation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014

dbSNP: rs775696136
rs775696136
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
TA 0.700 CausalMutation CLINVAR Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 21270641

2011

dbSNP: rs775696136
rs775696136
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
TA 0.700 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006

dbSNP: rs775696136
rs775696136
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
TA 0.700 GeneticVariation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006