Gene: DNAH5 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1161303371
rs1161303371
DNAH5
G 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299

2016
dbSNP: rs138890576
rs138890576
DNAH5
G 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299

2016
dbSNP: rs548521732
rs548521732
DNAH5
C 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: rs575017579
rs575017579
DNAH5
A 0.700 CausalMutation CLINVAR Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. 27618201

2016
dbSNP: rs752925056
rs752925056
DNAH5
AT 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299

2016
dbSNP: rs753130398
rs753130398
DNAH5
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: rs753130398
rs753130398
DNAH5
T 0.700 CausalMutation CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299

2016
dbSNP: rs773711154
rs773711154
DNAH5
A 0.700 CausalMutation CLINVAR Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. 27779714

2016
dbSNP: rs1305797678
rs1305797678
DNAH5
G 0.700 GeneticVariation CLINVAR The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. 24905662

2015
dbSNP: rs200901816
rs200901816
DNAH5
A 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2015
dbSNP: rs727502973
rs727502973
DNAH5
C 0.700 GeneticVariation CLINVAR Ciliary function and motor protein composition of human fallopian tubes. 26373788

2015
dbSNP: rs727502973
rs727502973
DNAH5
C 0.700 CausalMutation CLINVAR Ciliary function and motor protein composition of human fallopian tubes. 26373788

2015
dbSNP: rs769458738
rs769458738
DNAH5
T 0.700 CausalMutation CLINVAR Ciliary function and motor protein composition of human fallopian tubes. 26373788

2015
dbSNP: rs1443540935
rs1443540935
DNAH5
G 0.700 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs397515540
rs397515540
DNAH5
G 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs571919972
rs571919972
DNAH5
A 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs575017579
rs575017579
DNAH5
A 0.700 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs727502973
rs727502973
DNAH5
C 0.700 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs727502973
rs727502973
DNAH5
C 0.700 GeneticVariation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs752925056
rs752925056
DNAH5
AT 0.700 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014
dbSNP: rs769458738
rs769458738
DNAH5
T 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs775696136
rs775696136
DNAH5
TA 0.700 GeneticVariation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs886043448
rs886043448
DNAH5
T 0.700 CausalMutation CLINVAR A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. 24150548

2014
dbSNP: rs1304504006
rs1304504006
DNAH5
A 0.700 GeneticVariation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
dbSNP: rs397515540
rs397515540
DNAH5
G 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013