COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
Disease: Neural Tube Defects ×
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: rs737865
rs737865 		0.763 0.240 22 19942598 intron variant A/G snv 0.23
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2014 2015
dbSNP: rs1445081098
rs1445081098 		0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4633
rs4633 		0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs749437638
rs749437638 		0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015