{{Rsnum
|rsid=2255543
|Gene=HGD
|Chromosome=3
|position=120670469
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.2635
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=HGD
}}{{Venter SNP
|rsid=2255543
|allele=A
|frequency=
|uid=1103656210399
|type=homozygous_SNP
|hugo=HGD
|ensembl gene=ENSG00000113924
|ensembl transcript=ENST00000283871
|sift=TOLERATED
|disease=Defects in HGD are the cause of alkaptonuria (AKU) (MIM:203500). AKU is an autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations of AKU are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.
}}

{{ population diversity
| geno1 = (A;A)
| geno2 = (A;T)
| geno3 = (T;T)
| CEU | 10.0 | 40.0 | 50.0
| CHB | 17.8 | 37.8 | 44.4
| JPT | 15.6 | 44.4 | 40.0
| YRI | 0.0 | 28.3 | 71.7
}}

{{GET Evidence
|gene=HGD
|aa_change=Gln80His
|aa_change_short=Q80H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2255543
|overall_frequency_n=8007
|overall_frequency_d=10750
|overall_frequency=0.744837
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=83
|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=3
|n_web_uneval=2
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}