{{Rsnum
|rsid=398122843
|Chromosome=3
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PTH1R
|position=46901797
|Gene_s=PTH1R
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=3
|CLNACC=RCV000014751.18
|CLNALLE=1
|CLNDBN=Chondrodysplasia Blomstrand type
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1859148:215045:50945
|CLNHGVS=NC_000003.11:g.46943287G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=168468.0003
|Disease=Chondrodysplasia Blomstrand type
|FwdALT=A
|FwdREF=G
|GENEINFO=PTH1R:5745
|GENE_ID=5745
|GENE_NAME=PTH1R
|REF=G
|RSPOS=46943287
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=398122843
}}