{{Rsnum
|rsid=339445
|Gene=DNAH5
|Chromosome=5
|position=13944403
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=G
|GMAF=0.08494
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=DNAH5
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.9 | 15.5 | 83.6
| HCB | 0.7 | 19.1 | 80.1
| JPT | 0.0 | 18.6 | 81.4
| YRI | 2.7 | 22.4 | 74.8
| ASW | 1.8 | 23.2 | 75.0
| CHB | 0.7 | 19.1 | 80.1
| CHD | 0.0 | 21.3 | 78.7
| GIH | 1.0 | 9.9 | 89.1
| LWK | 1.8 | 24.5 | 73.6
| MEX | 0.0 | 7.0 | 93.0
| MKK | 1.3 | 23.2 | 75.5
| TSI | 0.0 | 9.8 | 90.2
| HapMapRevision=28
}}

{{Venter SNP
|rsid=339445
|allele=C
|frequency=0.915
|uid=1103654031278
|type=homozygous_SNP
|hugo=DNAH5
|ensembl gene=ENSG00000039139
|ensembl transcript=ENST00000382416
|sift=
|disease=Defects in DNAH5 are the cause of primary ciliary dyskinesia 3 (CILD3) (MIM:608644). CILD3 is characterized by axonemal abnormalities of respiratory cilia and sperm tails leading to bronchiectasis and sinusitis, which are sometimes associated with situs inversus (Kartagener syndrome) and male sterility.
}}

{{GET Evidence
|gene=DNAH5
|aa_change=His12Gln
|aa_change_short=H12Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs339445
|overall_frequency_n=9941
|overall_frequency_d=10758
|overall_frequency=0.924057
|n_genomes=55
|n_genomes_annotated=0
|n_haplomes=97
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}