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: 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
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: 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: 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: rs28939675
rs28939675
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C4016770
Disease:
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28939675
rs28939675
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1857586
Disease:
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT
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: rs1555895466
rs1555895466
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0012236
Disease:
DiGeorge Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs41298838
rs41298838
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0012236
Disease:
DiGeorge Syndrome 		0.700 GeneticVariation UNIPROT Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2. 11195019 2001
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: rs1274480565
rs1274480565
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0013069
Disease:
Double Outlet Right Ventricle 		0.010 GeneticVariation BEFREE Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV, c.98C > T (Ala33Val) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy. 23427188 2013
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Practical guidelines for managing adults with 22q11.2 deletion syndrome. 25569435 2015
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. 1349199 1992
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion. 24998776 2014
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 17273972 2007
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. 11748311 2001
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: 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: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Velo-cardio-facial syndrome: 30 Years of study. 18636631 2008
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome. 23996541 2013
dbSNP: rs1555896474
rs1555896474
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR 22q11 deletion syndrome: current perspective. 26056486 2015
dbSNP: rs2238776
rs2238776
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C2697758
Disease:
Interleukin 10 Measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide associated loci influencing interleukin (IL)-10, IL-1Ra, and IL-6 levels in African Americans. 22205395 2012
dbSNP: rs1329122220
rs1329122220
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0028754
Disease:
Obesity 		0.010 GeneticVariation BEFREE Even though transmission disequilibrium test (TDT) further supported the association of P352T and +2,004 -/inst T with obesity, none of these nominal associations remained significant after a multiple testing Bonferroni correction. 20075856 2010
dbSNP: rs2238776
rs2238776
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0600139
Disease:
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. 25217961 2014
dbSNP: rs41297816
rs41297816
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0036341
Disease:
Schizophrenia 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015