{{Rsnum
|rsid=121917763
|Chromosome=11
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=TH
|position=2167896
|Gene_s=TH
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=191290
|rsnum=121917763
|variant=0002
}}{{ClinVar
|rsid=121917763
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=2189126
|CHROM=11
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=TH:7054
|GENE_NAME=TH
|GENE_ID=7054
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.2189126A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=191290.0002
|CLNSIG=5
|CLNCUI=C1854299
|CLNDBN=Segawa syndrome, autosomal recessive
|Disease=Segawa syndrome
|CLNACC=RCV000013118.23
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1437:C1854299:605407:101150
}}