{{Rsnum
|rsid=267606657
|Chromosome=5
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=ANKH
|position=14741837
|Gene_s=ANKH
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=5
|CLNACC=RCV000005512.1
|CLNALLE=1
|CLNDBN=Craniometaphyseal dysplasia, autosomal dominant
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1461:C1852502:123000:1522
|CLNHGVS=NC_000005.9:g.14741946A>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605145.0013
|Disease=Craniometaphyseal dysplasia
|FwdALT=G
|FwdREF=T
|GENEINFO=ANKH:56172
|GENE_ID=56172
|GENE_NAME=ANKH
|REF=A
|RSPOS=14741946
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267606657
}}