{{Rsnum
|rsid = 28940290
|Gene=SETX
|geno1 = (C;C)
|geno2 = (C;T)
|geno3 = (T;T)
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|Chromosome=9
|position=132281483
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SETX
}}{{omim
|desc=ATAXIA-OCULAR APRAXIA 2
|id=608465
|rsnum=28940290
|variant=0003
}}{{ClinVar
|rsid=28940290
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=135156870
|CHROM=9
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=SETX:23064
|GENE_NAME=SETX
|GENE_ID=23064
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.135156870G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608465.0003
|CLNSIG=5
|CLNCUI=C1853761
|CLNDBN=Spinocerebellar ataxia autosomal recessive 1
|Disease=Spinocerebellar ataxia autosomal recessive 1
|CLNACC=RCV000002376.1
|Tags=RV;PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1154:C1853761:606002:64753
}}