{{Rsnum
|rsid=281865077
|Chromosome=10
|position=98435267
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=HPS1
|Gene_s=HPS1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=10
|CLNACC=RCV000005601.1
|CLNALLE=1
|CLNDBN=Hermansky-Pudlak syndrome 1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1287:C2931875:203300:231500:79430
|CLNHGVS=NC_000010.10:g.100195024C>T
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1287; 604982.0007
|Disease=Hermansky-Pudlak syndrome 1
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=100195024
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=281865077
|GENEINFO=HPS1:3257
|GENE_ID=3257
|GENE_NAME=HPS1
}}