{{Rsnum
|rsid=267607149
|position=109784385
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=TRPV4
|Gene_s=TRPV4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=minus
}}{{ClinVar
|ALT=T
|CHROM=12
|CLNACC=RCV000005303.1; RCV000005304.1; RCV000023424.1
|CLNALLE=1
|CLNDBN=Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepiphyseal dysplasia Maroteaux type; Metatrophic dysplasia
|CLNDSDB=MedGen:OMIM:Orphanet; MedGen:OMIM:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0265280:184252:93314; C3159322:184095:613678:263482:389165004; C0265281:156530:2635:22764001
|CLNHGVS=NC_000012.11:g.110222190C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=605427.0018
|Disease=Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia Maroteaux type; Metatrophic dysplasia
|FwdALT=A
|FwdREF=G
|GENEINFO=TRPV4:59341
|GENE_ID=59341
|GENE_NAME=TRPV4
|REF=C
|RSPOS=110222190
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=267607149
}}