{{Rsnum
|rsid=397514719
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=B3GALT6
|position=1232471
|Gene_s=B3GALT6,SDF4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=1
|CLNACC=RCV000054394.1
|CLNALLE=1
|CLNDBN=Spondyloepimetaphyseal dysplasia with joint laxity
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0432243:271640:254100000
|CLNHGVS=NC_000001.11:g.1232471A>G
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_016547.2:c.-733T>C; NM_080605.3:c.193A>G; 615291.0005
|Disease=Spondyloepimetaphyseal dysplasia with joint laxity
|FwdALT=C
|FwdREF=T
|GENEINFO=B3GALT6:126792; SDF4:51150
|GENE_ID=126792; 51150
|GENE_NAME=B3GALT6; SDF4
|REF=A
|RSPOS=1232471
|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=397514719
|CLNORIGIN=1
}}