Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315522
rs74315522
TBX1
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: rs74315522
rs74315522
TBX1
0.800 GeneticVariation UNIPROT Practical guidelines for managing adults with 22q11.2 deletion syndrome. 25569435

2015
dbSNP: rs74315522
rs74315522
TBX1
0.800 GeneticVariation UNIPROT We report a novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex. 17273972

2007
dbSNP: rs74315522
rs74315522
TBX1
0.800 GeneticVariation UNIPROT Role of TBX1 in human del22q11.2 syndrome. 14585638

2003
dbSNP: rs74315522
rs74315522
TBX1
G 0.800 CausalMutation CLINVAR

dbSNP: rs28939675
rs28939675
TBX1
0.700 GeneticVariation UNIPROT Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 17273972

2007
dbSNP: rs28939675
rs28939675
TBX1
0.700 GeneticVariation UNIPROT Role of TBX1 in human del22q11.2 syndrome. 14585638

2003
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.020 GeneticVariation BEFREE The COMT Val158Met polymorphism was genotyped for 26 adults with VCFS on whom DNA was available. 17493297

2008
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.020 GeneticVariation BEFREE Fifty-five unrelated individuals with VCFS underwent psychiatric evaluation and were genotyped for the COMT 158Val/Met polymorphism coding for COMT high/low-activity alleles. 16734939

2007