Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4680
rs4680
COMT ; MIR4761
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.020 GeneticVariation BEFREE We studied whether a functional polymorphism in the COMT gene (Val(158) Met) influences striatal D(2/3) R binding ratios (D(2/3) R BP(ND) ) in 15 adults with 22q11 deletion syndrome and hemizygous for this gene, using single photon emission computed tomography and the selective D(2/3) radioligand [(123) I]IBZM. 21465565

2011
dbSNP: rs4680
rs4680
COMT ; MIR4761
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.020 GeneticVariation BEFREE No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. 16513880

2006
dbSNP: rs450046
rs450046
PRODH ; DGCR6
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.010 GeneticVariation BEFREE PRODH rs450046 and proline x COMT Val¹⁵⁸ Met interaction effects on intelligence and startle in adults with 22q11 deletion syndrome. 26068888

2015