{{Rsnum
|rsid=104893921
|Chromosome=5
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=SLC26A2
|position=149980954
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SLC26A2
}}{{omim
|id=606718
|rsnum=104893921
|variant=0009
}}{{ClinVar
|rsid=104893921
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=149360517
|CHROM=5
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=SLC26A2:1836
|GENE_NAME=SLC26A2
|GENE_ID=1836
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.149360517A>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;OTHERKG;LSD;OM
|CLNACC=RCV000004311.1; RCV000055758.1
|CLNDBN=Diastrophic dysplasia, broad bone-platyspondylic variant; Diastrophic dysplasia
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1857255; NBK1350:C0220726:222600:628:58561002
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1350; 606718.0009
|Disease=Diastrophic dysplasia; Diastrophic dysplasia
}}