{{Rsnum
|rsid=137853248
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=HSPG2
|position=21864874
|Gene_s=HSPG2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=142461
|variant=0002
|rsnum=137853248
}}{{ClinVar
|rsid=137853248
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=21864874
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000a05000002110100
|GENEINFO=HSPG2:3339
|GENE_NAME=HSPG2
|GENE_ID=3339
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.21864874C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_005529.5:c.4595G>A; 142461.0002
|CLNSIG=5
|CLNCUI=C0036391
|CLNDBN=Schwartz Jampel syndrome type 1
|Disease=Schwartz Jampel syndrome type 1
|CLNACC=RCV000016053.20
|Tags=RV;PM;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C0036391:255800:ORPHA800
}}