{{Rsnum
|rsid=28938169
|Gene=PHYH
|Chromosome=10
|position=13298236
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.107
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PHYH
}}{{omim
|desc=REFSUM DISEASE
|id=602026
|rsnum=28938169
|variant=0006
}}{{ClinVar
|rsid=28938169
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=13340236
|CHROM=10
|GMAF=0.1067
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050160000000170516110100
|GENEINFO=PHYH:5264
|GENE_NAME=PHYH
|GENE_ID=5264
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.13340236G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602026.0006
|CLNSIG=2
|CLNCUI=C2749345
|CLNDBN=Phytanic acid storage disease
|Disease=Phytanic acid storage disease
|CLNACC=RCV000008020.1
|Tags=RV;PM;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.893; 0.107
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1270:NBK1353:C0034960:266500:600964:773:25362006
|COMMON=1
}}{{GET Evidence
|gene=PHYH
|aa_change=Pro29Ser
|aa_change_short=P29S
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs28938169
|overall_frequency_n=1671
|overall_frequency_d=10758
|overall_frequency=0.155326
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualityscore_severity=0
|qualityscore_treatability=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.006
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|max_or_disease_name=Refsum Disease
|max_or_case_pos=6
|max_or_case_neg=65
|max_or_control_pos=10
|max_or_control_neg=182
|max_or_or=1.680
|autoscore=4
|webscore=N
|n_web_uneval=5
|variant_evidence=0
|clinical_importance=0
|summary_short=Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.
}}

{{on chip | 23andMe v4}}