{{Rsnum
|rsid=104894647
|Chromosome=17
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SOX9
|position=72122804
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SOX9
}}{{omim
|id=608160
|rsnum=104894647
|variant=0006
}}{{ClinVar
|rsid=104894647
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=70118945
|CHROM=17
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=SOX9:6662
|GENE_NAME=SOX9
|GENE_ID=6662
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.70118945A>G
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000002618.1
|CLNDBN=Acampomelic campomelic dysplasia
|CLNDSDB=MedGen
|CLNDSDBID=C1861923
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608160.0006
|Disease=Acampomelic campomelic dysplasia
}}