{{Rsnum
|rsid=121908385
|Chromosome=10
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=HPS1
|position=98417671
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=HPS1,PYROXD2
}}{{omim
|id=604982
|rsnum=121908385
|variant=0003
}}{{ClinVar
|rsid=121908385
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=100177428
|CHROM=10
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050160000000000002110100
|GENEINFO=HPS1:3257
|GENE_NAME=HPS1
|GENE_ID=3257
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.100177428C>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000005597.1
|CLNDBN=Hermansky-Pudlak syndrome 1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1287:C2931875:203300:231500:79430
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1287; 604982.0003
|Disease=Hermansky-Pudlak syndrome 1
}}