Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs571919972
rs571919972
A 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013

dbSNP: rs575017579
rs575017579
A 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013

dbSNP: rs727504802
rs727504802
G 0.700 GeneticVariation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013

dbSNP: rs753130398
rs753130398
T 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013

dbSNP: rs753614861
rs753614861
T 0.700 GeneticVariation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013

dbSNP: rs753614861
rs753614861
T 0.700 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013

dbSNP: rs771663107
rs771663107
A 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013

dbSNP: rs773711154
rs773711154
A 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013

dbSNP: rs397515540
rs397515540
G 0.700 CausalMutation CLINVAR Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. 22416021

2012

dbSNP: rs571919972
rs571919972
A 0.700 CausalMutation CLINVAR Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. 22416021

2012

dbSNP: rs769458738
rs769458738
T 0.700 CausalMutation CLINVAR High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950

2012

dbSNP: rs878854457
rs878854457
G 0.700 CausalMutation CLINVAR Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. 22416021

2012

dbSNP: rs727502975
rs727502975
C 0.700 GeneticVariation CLINVAR Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 21270641

2011

dbSNP: rs775696136
rs775696136
TA 0.700 CausalMutation CLINVAR Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 21270641

2011

dbSNP: rs1304504006
rs1304504006
A 0.700 GeneticVariation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009

dbSNP: rs148891849
rs148891849
A 0.700 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009

dbSNP: rs200901816
rs200901816
A 0.700 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009

dbSNP: rs548521732
rs548521732
C 0.700 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009

dbSNP: rs574586008
rs574586008
T 0.700 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009

dbSNP: rs575017579
rs575017579
A 0.700 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009

dbSNP: rs727502971
rs727502971
T 0.700 GeneticVariation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009

dbSNP: rs771663107
rs771663107
A 0.700 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009

dbSNP: rs1060501460
rs1060501460
T 0.700 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006

dbSNP: rs1060501461
rs1060501461
C 0.700 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006

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

2006