{{Rsnum
|rsid=30168
|Gene=DNAH5
|Chromosome=5
|position=13718980
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.4421
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=DNAH5
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 22.1 | 37.2 | 40.7
| HCB | 15.4 | 45.6 | 39.0
| JPT | 16.8 | 56.6 | 26.5
| YRI | 37.4 | 49.7 | 12.9
| ASW | 14.0 | 56.1 | 29.8
| CHB | 15.4 | 45.6 | 39.0
| CHD | 15.6 | 49.5 | 34.9
| GIH | 24.8 | 45.5 | 29.7
| LWK | 29.1 | 40.0 | 30.9
| MEX | 13.8 | 50.0 | 36.2
| MKK | 12.8 | 51.9 | 35.3
| TSI | 23.5 | 50.0 | 26.5
| HapMapRevision=28
}}

{{Venter SNP
|rsid=30168
|allele=A
|frequency=0.342
|uid=1103654030867
|type=homozygous_SNP
|hugo=DNAH5
|ensembl gene=ENSG00000039139
|ensembl transcript=ENST00000382416
|sift=AFFECT FUNCTION
|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.
}}

{{PMID Auto
|PMID=19197363
|Title=A genome-wide investigation of SNPs and CNVs in schizophrenia.
|OA=1
}}

{{GET Evidence
|gene=DNAH5
|aa_change=Ala4134Val
|aa_change_short=A4134V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs30168
|overall_frequency_n=4957
|overall_frequency_d=10758
|overall_frequency=0.460773
|n_genomes=38
|n_genomes_annotated=0
|n_haplomes=51
|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=2
|autoscore=2
|webscore=N
}}

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