{{Rsnum
|rsid=121912633
|Gene=TRPV4
|Chromosome=12
|position=109792396
|Orientation=minus
|GMAF=0.0004591
|Gene_s=TRPV4
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{omim
|id=605427
|rsnum=121912633
|variant=0002
}}{{ClinVar
|rsid=121912633
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=110230201
|CHROM=12
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000016110100
|GENEINFO=TRPV4:59341
|GENE_NAME=TRPV4
|GENE_ID=59341
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.110230201C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=605427.0002
|CLNSIG=5
|CLNCUI=C0432227
|CLNDBN=Brachyrachia (short spine dysplasia)
|Disease=Brachyrachia (short spine dysplasia)
|CLNACC=RCV000005281.1
|Tags=RV;PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0432227:113500:1293:254087001
|COMMON=0
}}