TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray. 26884814 2016
dbSNP: rs74315522
rs74315522
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease:
Shprintzen syndrome 		0.800 GeneticVariation UNIPROT Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. 27467454 2016
dbSNP: rs41298838
rs41298838
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0012236
Disease:
DiGeorge Syndrome 		0.700 GeneticVariation UNIPROT Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. 27467454 2016
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening. 27617111 2015
dbSNP: rs749275495
rs749275495
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0266642
Disease:
Situs ambiguus 		0.010 GeneticVariation BEFREE Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively. 30007050 2018
dbSNP: rs749275495
rs749275495
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1389018
Disease:
Atrioventricular Septal Defect 		0.010 GeneticVariation BEFREE Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively. 30007050 2018
dbSNP: rs749275495
rs749275495
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1389016
Disease:
ATRIOVENTRICULAR CANAL DEFECT 		0.010 GeneticVariation BEFREE Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively. 30007050 2018
dbSNP: rs12165908
rs12165908
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0010068
Disease:
Coronary heart disease 		0.010 GeneticVariation BEFREE Genotype analyses revealed that minor alleles in <i>TBX1</i>: rs12165908 C > G [odds ratio (OR) = 2.64; 95% confidence interval (CI) = 1.87-3.73, <i>p</i> = 3.03 × 10<sup>-8</sup>] and <i>GATA6</i>: rs143085291 C > T (OR = 2.49; 95% CI = 1.18-5.29, <i>p</i> = 0.01) increased CHD risk significantly. 31013439 2019
dbSNP: rs41298006
rs41298006
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C3274516
Disease:
Single Ventricle Defect 		0.010 GeneticVariation BEFREE The minor allele C in <i>GATA4</i>: rs17153694 T > C increased the risk of tetralogy of Fallot, whereas minor alleles in <i>TBX1</i>: rs41298006 G>A, <i>FGF10</i>: rs75629618 C>T, <i>FGF10:</i> rs10461755 G>A, <i>FGF10:</i> rs75632187 A>G, and <i>FGF10:</i> rs12518964 G > A were associated with increased risk of single ventricle. 31013439 2019
dbSNP: rs41298006
rs41298006
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0152424
Disease:
Common ventricle 		0.010 GeneticVariation BEFREE The minor allele C in <i>GATA4</i>: rs17153694 T > C increased the risk of tetralogy of Fallot, whereas minor alleles in <i>TBX1</i>: rs41298006 G>A, <i>FGF10</i>: rs75629618 C>T, <i>FGF10:</i> rs10461755 G>A, <i>FGF10:</i> rs75632187 A>G, and <i>FGF10:</i> rs12518964 G > A were associated with increased risk of single ventricle. 31013439 2019
dbSNP: rs1978060
rs1978060
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese. 31417091 2019
dbSNP: rs1978060
rs1978060
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese. 31417091 2019