Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854457
rs878854457
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826

2002
dbSNP: rs878854446
rs878854446
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs878854445
rs878854445
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		C 0.700 CausalMutation CLINVAR

dbSNP: rs878854444
rs878854444
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878854441
rs878854441
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs878854436
rs878854436
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878854435
rs878854435
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs876657683
rs876657683
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. 19675306

2010
dbSNP: rs876657637
rs876657637
DNAL1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 21496787

2011
dbSNP: rs869320683
rs869320683
RSPH4A
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 23798057

2013
dbSNP: rs864622512
rs864622512
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		TA 0.700 CausalMutation CLINVAR

dbSNP: rs863224531
rs863224531
CCDC39
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs863224519
rs863224519
CCDC40 ; MIR1268B
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs863224504
rs863224504
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863224503
rs863224503
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826

2002
dbSNP: rs863224503
rs863224503
DNAH5
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
dbSNP: rs863223325
rs863223325
CCDC65
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 GeneticVariation CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884

2015
dbSNP: rs863223325
rs863223325
CCDC65
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 GeneticVariation CLINVAR Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
dbSNP: rs863223325
rs863223325
CCDC65
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 GeneticVariation CLINVAR CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. 23991085

2013
dbSNP: rs79833450
rs79833450
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). 21143860

2010
dbSNP: rs79833450
rs79833450
DNAI1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 11231901

2001
dbSNP: rs797045085
rs797045085
DNAH11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs786205052
rs786205052
DNAAF1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs78484669
rs78484669
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs781469274
rs781469274
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