{{Rsnum
|rsid=397515452
|Chromosome=10
|Orientation=minus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=HPSE2
|position=98459725
|Gene_s=HPSE2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=10
|CLNACC=RCV000054516.1
|CLNALLE=1
|CLNDBN=Ochoa syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK154138:C0403555:236730:2704:236533008
|CLNHGVS=NC_000010.10:g.100219482T>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=613469.0009
|Disease=Ochoa syndrome
|FwdALT=T
|FwdREF=A
|GENEINFO=HPSE2:60495
|GENE_ID=60495
|GENE_NAME=HPSE2
|REF=T
|RSPOS=100219482
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397515452
}}