Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs989235687
rs989235687
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
T 0.700 GeneticVariation CLINVAR

dbSNP: rs972753865
rs972753865
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
C 0.700 GeneticVariation CLINVAR

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

dbSNP: rs944647296
rs944647296
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
T 0.700 GeneticVariation CLINVAR

dbSNP: rs914675446
rs914675446
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: rs914675446
rs914675446
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: rs902750903
rs902750903
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR

dbSNP: rs902156961
rs902156961
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
TCCCC 0.700 CausalMutation CLINVAR

dbSNP: rs886059965
rs886059965
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
A 0.700 CausalMutation CLINVAR

dbSNP: rs886043448
rs886043448
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
T 0.700 CausalMutation CLINVAR A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. 24150548

2014

dbSNP: rs886039340
rs886039340
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
C 0.700 GeneticVariation CLINVAR New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. 20513915

2010

dbSNP: rs886039340
rs886039340
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
C 0.700 GeneticVariation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012

dbSNP: rs886039340
rs886039340
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
C 0.700 GeneticVariation CLINVAR Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. 18022865

2008

dbSNP: rs879253744
rs879253744
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
T 0.700 CausalMutation CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778

2013

dbSNP: rs878855280
rs878855280
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
C 0.700 CausalMutation CLINVAR

dbSNP: rs878855279
rs878855279
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
T 0.700 CausalMutation CLINVAR

dbSNP: rs878855078
rs878855078
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
A 0.700 CausalMutation CLINVAR

dbSNP: rs878855042
rs878855042
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
CT 0.700 CausalMutation CLINVAR

dbSNP: rs878855041
rs878855041
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
T 0.700 CausalMutation CLINVAR

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

dbSNP: rs878854968
rs878854968
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR

dbSNP: rs878854459
rs878854459
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878854458
rs878854458
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
CT 0.700 CausalMutation CLINVAR

dbSNP: rs878854457
rs878854457
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: rs878854457
rs878854457
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. 22416021

2012