TBX1, T-box transcription factor 1, 6899

N. diseases: 20; N. variants: 9
Disease: DiGeorge Syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1555895466
rs1555895466
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0012236
Disease:
DiGeorge Syndrome 		T 0.700 CausalMutation CLINVAR