{{Rsnum
|rsid=12735723
|Gene=PPOX
|Chromosome=1
|position=161169143
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.004132
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=PPOX
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 93.8 | 6.2 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=VARIEGATE PORPHYRIA, HOMOZYGOUS
|id=600923
|rsnum=12735723
|variant=0013
}}

{{Venter SNP
|rsid=12735723
|allele=G
|frequency=0.025
|uid=1103675240750
|type=homozygous_SNP
|hugo=PPOX
|ensembl gene=ENSG00000143224
|ensembl transcript=ENST00000352210
|sift=TOLERATED
|disease=Defects in PPOX are the cause of porphyria variegata (VP) (MIM:176200). It is characterized by skin hyperpigmentation and hair hypertrichosis, associated with acute attacks, like those of acute intermittent porphyria.
}}

{{ClinVar
|rsid=12735723
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=161169143
|CHROM=1
|GMAF=0.0041
|dbSNPBuildID=121
|SSR=0
|SAO=1
|VP=0x050360000a05040517110101
|GENEINFO=PPOX:5498
|GENE_NAME=PPOX
|GENE_ID=5498
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.161169143C>G
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;SLO;NSM;REF;ASP;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9959; 0.004132
|CLNACC=RCV000009241.2
|CLNDBN=Variegate porphyria, homozygous
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001122764.1:c.767C>G; 600923.0013
|COMMON=1
|Disease=Variegate porphyria
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}