COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
Disease: 22q11 Deletion Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.020 1.000 2 2006 2011