rs4680, COMT;MIR4761

N. diseases: 249
Disease: Shprintzen syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Shprintzen syndrome
CUI: C0220704
Disease: Shprintzen syndrome
0.020 GeneticVariation BEFREE The COMT Val158Met polymorphism was genotyped for 26 adults with VCFS on whom DNA was available. 17493297 2008
Shprintzen syndrome
CUI: C0220704
Disease: Shprintzen syndrome
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