{{Rsnum
|rsid=387907214
|Chromosome=2
|position=177521274
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=AGPS
|Gene_s=AGPS
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=2
|CLNACC=RCV000029144.1
|CLNALLE=1
|CLNDBN=Rhizomelic chondrodysplasia punctata type 3
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1838612:600121:177
|CLNHGVS=NC_000002.11:g.178386002C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=603051.0004
|Disease=Rhizomelic chondrodysplasia punctata type 3
|FwdALT=T
|FwdREF=C
|REF=C
|RSPOS=178386002
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387907214
|GENEINFO=AGPS:8540
|GENE_ID=8540
|GENE_NAME=AGPS
}}