{{Rsnum
|rsid=5030849
|Gene=PAH
|Chromosome=12
|position=102852875
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|Summary=Mild Phenylketonuria
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PAH
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| 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
| id = 261600
| variant = 0006
| desc    = PHENYLKETONURIA, MILD
| rsnum   = 5030849
}}

{{omim
|id=612349
|rsnum=5030849
|variant=0006
}}

{{ClinVar
|rsid=5030849
|Reversed=1
|FwdREF=G
|FwdALT=A,C
|REF=C
|ALT=G,T
|RSPOS=103246653
|CHROM=12
|dbSNPBuildID=113
|SSR=0
|SAO=1
|VP=0x050360000000040103110100
|GENEINFO=PAH:5053
|GENE_NAME=PAH
|GENE_ID=5053
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000012.11:g.103246653C>T
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=1692; 612349.0006
|CLNSIG=5
|CLNCUI=C0031485
|CLNDBN=Phenylketonuria; not provided
|Disease=Phenylketonuria; not provided
|CLNACC=RCV000000612.1; RCV000078530.1
|Tags=RV;PM;S3D;SLO;VLD;GNO;OTHERKG;PH3;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1504:C0031485:261600:2209:716:154735006
}}

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