Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757784023
rs757784023
T 0.700 CausalMutation CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300

2016

dbSNP: rs200693106
rs200693106
T 0.700 CausalMutation CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884

2015

dbSNP: rs368260932
rs368260932
T 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2015

dbSNP: rs368260932
rs368260932
T 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. 24450482

2014

dbSNP: rs1175443221
rs1175443221
A 0.700 CausalMutation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012

dbSNP: rs1554281038
rs1554281038
A 0.700 GeneticVariation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012

dbSNP: rs200693106
rs200693106
T 0.700 CausalMutation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012

dbSNP: rs201943194
rs201943194
T 0.700 CausalMutation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012

dbSNP: rs368260932
rs368260932
T 0.700 CausalMutation CLINVAR Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. 22102620

2012

dbSNP: rs532007878
rs532007878
A 0.700 CausalMutation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012

dbSNP: rs72657316
rs72657316
T 0.700 CausalMutation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012

dbSNP: rs72657321
rs72657321
T 0.700 CausalMutation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012

dbSNP: rs72657393
rs72657393
T 0.700 CausalMutation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012

dbSNP: rs886039340
rs886039340
C 0.700 GeneticVariation CLINVAR Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 22184204

2012

dbSNP: rs1175443221
rs1175443221
A 0.700 CausalMutation CLINVAR New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. 20513915

2010

dbSNP: rs1554281038
rs1554281038
A 0.700 GeneticVariation CLINVAR New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. 20513915

2010

dbSNP: rs886039340
rs886039340
C 0.700 GeneticVariation CLINVAR New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. 20513915

2010

dbSNP: rs1175443221
rs1175443221
A 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. 18022865

2008

dbSNP: rs1554281038
rs1554281038
A 0.700 GeneticVariation CLINVAR Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. 18022865

2008

dbSNP: rs886039340
rs886039340
C 0.700 GeneticVariation CLINVAR Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. 18022865

2008

dbSNP: rs1060503041
rs1060503041
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503063
rs1060503063
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503064
rs1060503064
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1164659091
rs1164659091
T 0.700 CausalMutation CLINVAR

dbSNP: rs1178187217
rs1178187217
A 0.700 GeneticVariation CLINVAR