Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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