{{Rsnum
|rsid=398122361
|Chromosome=6
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=DSE
|position=116431086
|Gene_s=DSE
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=6
|CLNACC=RCV000074436.3
|CLNALLE=1
|CLNDBN=Ehlers-Danlos syndrome, musculocontractural type 2
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN181762:615539:2953
|CLNHGVS=NC_000006.11:g.116752249C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605942.0001
|Disease=Ehlers-Danlos syndrome
|FwdALT=T
|FwdREF=C
|GENEINFO=DSE:29940
|GENE_ID=29940
|GENE_NAME=DSE
|REF=C
|RSPOS=116752249
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=398122361
}}