Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503095
rs1060503095
DNAAF4 ; DNAAF4-CCPG1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		AG 0.700 CausalMutation CLINVAR

dbSNP: rs1060503388
rs1060503388
CCNO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2015
dbSNP: rs1060503388
rs1060503388
CCNO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639

2014
dbSNP: rs1060503433
rs1060503433
EFTUD2 ; CCDC103 ; FAM187A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503495
rs1060503495
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060503515
rs1060503515
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1064792947
rs1064792947
RSPH1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1159887305
rs1159887305
DNAAF3 ; LOC101930593
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs116128702
rs116128702
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

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
dbSNP: rs1164659091
rs1164659091
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs116938457
rs116938457
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1175443221
rs1175443221
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012
dbSNP: rs1175443221
rs1175443221
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. 20513915

2010
dbSNP: rs1175443221
rs1175443221
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. 18022865

2008
dbSNP: rs1175877764
rs1175877764
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1178187217
rs1178187217
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs118204041
rs118204041
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs118204042
rs118204042
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs118204043
rs118204043
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. 22448264

2012
dbSNP: rs118204043
rs118204043
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 19200523

2009
dbSNP: rs1188507108
rs1188507108
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1193586811
rs1193586811
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006
dbSNP: rs1200826286
rs1200826286
DNAAF4 ; DNAAF4-CCPG1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1210953680
rs1210953680
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR