{{Rsnum
|rsid=28942100
|Gene=HGD
|Chromosome=3
|position=120644405
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HGD
}}{{omim
|desc=ALKAPTONURIA
|id=607474
|rsnum=28942100
|variant=0001
}}

{{ClinVar
|rsid=28942100
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=120363252
|CHROM=3
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000016110100
|GENEINFO=HGD:3081
|GENE_NAME=HGD
|GENE_ID=3081
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.120363252G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1454; 607474.0001
|CLNSIG=5
|CLNCUI=C0002066
|CLNDBN=Alkaptonuria
|Disease=Alkaptonuria
|CLNACC=RCV000003315.2
|Tags=RV;PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1454:C0002066:203500:56
|COMMON=0
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}