{{Rsnum
|rsid=267606985
|Chromosome=12
|position=27963693
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PTHLH
|Gene_s=PTHLH
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=G
|CHROM=12
|CLNACC=RCV000014745.18
|CLNALLE=1
|CLNDBN=Brachydactyly type E2
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3150644:613382:93387
|CLNHGVS=NC_000012.11:g.28116626A>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=168470.0001
|Disease=Brachydactyly type E2
|FwdALT=C
|FwdREF=T
|GENEINFO=PTHLH:5744
|GENE_ID=5744
|GENE_NAME=PTHLH
|REF=A
|RSPOS=28116626
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606985
}}