{{Rsnum
|rsid=104894173
|Chromosome=10
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PHYH
|position=13288428
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PHYH
}}{{omim
|id=602026
|rsnum=104894173
|variant=0008
}}{{ClinVar
|rsid=104894173
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=13330428
|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.13330428C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602026.0008
|CLNSIG=5
|CLNCUI=C2749345
|CLNDBN=Refsum disease, adult, 1
|Disease=Refsum disease
|CLNACC=RCV000008025.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=C2749345
}}