{{Rsnum
|rsid=10258719
|Gene=ATP6V0A4
|Chromosome=7
|position=138771243
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.3411
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ATP6V0A4
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 7.1 | 44.6 | 48.2
| HCB | 27.7 | 49.6 | 22.6
| JPT | 24.8 | 46.9 | 28.3
| YRI | 8.2 | 40.8 | 51.0
| ASW | 14.0 | 31.6 | 54.4
| CHB | 27.7 | 49.6 | 22.6
| CHD | 26.6 | 49.5 | 23.9
| GIH | 2.0 | 29.7 | 68.3
| LWK | 4.5 | 38.2 | 57.3
| MEX | 17.2 | 44.8 | 37.9
| MKK | 5.1 | 35.3 | 59.6
| TSI | 7.8 | 38.2 | 53.9
| HapMapRevision=28
}}

{{Venter SNP
|rsid=10258719
|allele=G
|frequency=0.258
|uid=1103652718662
|type=heterozygous_SNP
|hugo=ATP6V0A4
|ensembl gene=ENSG00000105929
|ensembl transcript=ENST00000310018
|sift=AFFECT FUNCTION
|disease=Defects in ATP6V0A4 are the cause of distal renal tubular acidosis with preserved hearing (RTADR) (MIM:602722). RTADR is an autosomal recessive form of distal renal tubular acidosis (dRTA), a group of disorders characterized by functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. Functional failure of alpha-intercalated cells results in metabolic acidosis accompanied by disturbances of potassium balance, urinary calcium solubility, bone physiology and growth.
}}

{{GET Evidence
|gene=ATP6V0A4
|aa_change=Val2Ala
|aa_change_short=V2A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10258719
|overall_frequency_n=7905
|overall_frequency_d=10758
|overall_frequency=0.734802
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=78
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=2
|autoscore=2
|n_web_uneval=1
}}

{{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}}