{{Rsnum
|rsid=281865080
|Chromosome=10
|position=98430623
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=HPS1
|Gene_s=HPS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=plus
}}{{ClinVar
|ALT=G
|CHROM=10
|CLNACC=RCV000020197.1
|CLNALLE=1
|CLNDBN=Hermansky-Pudlak syndrome 1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1287:C2931875:203300:231500:79430
|CLNHGVS=NC_000010.10:g.100190380A>G
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1287
|Disease=Hermansky-Pudlak syndrome 1
|FwdALT=G
|FwdREF=A
|REF=A
|RSPOS=100190380
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=281865080
|GENEINFO=HPS1:3257
|GENE_ID=3257
|GENE_NAME=HPS1
}}