{{Rsnum
|rsid=387907102
|Chromosome=8
|position=56980038
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=IMPAD1
|Gene_s=IMPAD1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=8
|CLNACC=RCV000024086.1
|CLNALLE=1
|CLNDBN=Chondrodysplasia with joint dislocations, GPAPP type
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3279757:614078:280586
|CLNHGVS=NC_000008.10:g.57892597T>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=614010.0002
|Disease=Chondrodysplasia with joint dislocations
|FwdALT=C
|FwdREF=A
|REF=T
|RSPOS=57892597
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387907102
|GENEINFO=IMPAD1:54928
|GENE_ID=54928
|GENE_NAME=IMPAD1
}}