Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41298838
rs41298838
TBX1
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
TBX1
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
TBX1
T 0.700 CausalMutation CLINVAR