{{Rsnum
|rsid=104894179
|Chromosome=10
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=PHYH
|position=13283713
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PHYH
}}{{omim
|id=602026
|rsnum=104894179
|variant=0004
}}{{ClinVar
|rsid=104894179
|Reversed=1
|FwdREF=A
|FwdALT=C
|REF=T
|ALT=G
|RSPOS=13325713
|CHROM=10
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=PHYH:5264
|GENE_NAME=PHYH
|GENE_ID=5264
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.13325713T>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602026.0004
|CLNSIG=5
|CLNCUI=C2749345
|CLNDBN=Refsum disease, adult, 1
|Disease=Refsum disease
|CLNACC=RCV000008022.2
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=C2749345
}}