{{Rsnum
|rsid = 28939675
|Gene = TBX1
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Chromosome=22
|position=19763273
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TBX1
}}{{omim
|desc=CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
|id=602054
|rsnum=28939675
|variant=0001
}}

{{ClinVar
|rsid=28939675
|Reversed=0
|FwdREF=T
|FwdALT=A
|REF=T
|ALT=A
|RSPOS=19750796
|CHROM=22
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=TBX1:6899
|GENE_NAME=TBX1
|GENE_ID=6899
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000022.10:g.19750796T>A
|CLNORIGIN=0
|CLNSIG=5
|Tags=PM;PMC;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000007999.2
|CLNDBN=Conotruncal anomaly face syndrome/velocardiofacial syndrome
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=602054.0001
|Disease=Conotruncal anomaly face syndrome/velocardiofacial syndrome
}}

{{PMID|16854283}} [Single nucleotide polymorphism and haplotype in TBX1 gene of patients with conotruncal defects: analysis of 130 cases].

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