{{Rsnum
|rsid=121434598
|Chromosome=3
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=PTH1R
|position=46902542
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PTH1R
}}{{omim
|id=168468
|rsnum=121434598
|variant=0002
}}{{ClinVar
|rsid=121434598
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=46944032
|CHROM=3
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=PTH1R:5745
|GENE_NAME=PTH1R
|GENE_ID=5745
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.46944032A>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=168468.0002
|CLNSIG=5
|CLNCUI=C0265295
|CLNDBN=Metaphyseal chondrodysplasia, Jansen type
|Disease=Metaphyseal chondrodysplasia
|CLNACC=RCV000014750.24
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0265295:156400:33067:24629003
}}