{{Rsnum
|rsid=397514717
|Chromosome=1
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=B3GALT6
|position=1232972
|Gene_s=B3GALT6,SDF4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=1
|CLNACC=RCV000054391.1
|CLNALLE=1
|CLNDBN=Spondyloepimetaphyseal dysplasia with joint laxity
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0432243:271640:254100000
|CLNHGVS=NC_000001.11:g.1232972C>T
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_016547.2:c.-1234G>A; NM_080605.3:c.694C>T; 615291.0002
|Disease=Spondyloepimetaphyseal dysplasia with joint laxity
|FwdALT=A
|FwdREF=G
|GENEINFO=B3GALT6:126792; SDF4:51150
|GENE_ID=126792; 51150
|GENE_NAME=B3GALT6; SDF4
|REF=C
|RSPOS=1232972
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;NSM;REF;R5;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060020a05000002110100
|WGT=1
|dbSNPBuildID=136
|rsid=397514717
|CLNORIGIN=1
}}