{{Rsnum
|rsid = 28934580
|Gene = TH
|geno1 = (A;A)
|geno2 = (A;G)
|geno3 = (G;G)
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|Chromosome=11
|position=2166693
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TH
}}{{omim
|desc=SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
|id=191290
|rsnum=28934580
|variant=0004
}}
{{ neighbor
| rsid = 28934581
| distance = 302
}}

{{ClinVar
|rsid=28934580
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=2187923
|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.2187923C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=191290.0004
|CLNSIG=5
|CLNCUI=C1854299
|CLNDBN=Segawa syndrome, autosomal recessive
|Disease=Segawa syndrome
|CLNACC=RCV000013121.15
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1437:C1854299:605407:101150
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}