Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1223799853
rs1223799853
DNAH8 ; DNAH8-AS1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1437893220
rs1437893220
DNAH8 ; DNAH8-AS1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs144711161
rs144711161
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs145974361
rs145974361
DNAH8
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: rs1554132747
rs1554132747
DNAH8 ; DNAH8-AS1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1561836628
rs1561836628
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1562782355
rs1562782355
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs376576474
rs376576474
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs376903331
rs376903331
DNAH8 ; DNAH8-AS1
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: rs749731714
rs749731714
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs753496815
rs753496815
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		TAG 0.700 CausalMutation CLINVAR

dbSNP: rs756616538
rs756616538
DNAH8
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: rs766256391
rs766256391
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR

dbSNP: rs766707325
rs766707325
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		G 0.700 CausalMutation CLINVAR

dbSNP: rs769929539
rs769929539
DNAH8 ; DNAH8-AS1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs770372463
rs770372463
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		AT 0.700 CausalMutation CLINVAR

dbSNP: rs776176679
rs776176679
DNAH8
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR

dbSNP: rs776791493
rs776791493
DNAH8 ; DNAH8-AS1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 GeneticVariation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014