Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554248794
rs1554248794
PRKAR1B ; DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554248887
rs1554248887
PRKAR1B ; DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554255966
rs1554255966
DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		CCACCCTGGGT 0.700 CausalMutation CLINVAR

dbSNP: rs397514561
rs397514561
DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. 23040496

2012
dbSNP: rs765025514
rs765025514
DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs767713588
rs767713588
DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014
dbSNP: rs767713588
rs767713588
DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. 25232951

2014
dbSNP: rs878855036
rs878855036
DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR

dbSNP: rs950490534
rs950490534
DNAAF5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR