COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
Disease: Malignant neoplasm of lung ×
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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.040 1.000 4 2012 2018
dbSNP: rs4633
rs4633 		0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs746764639
rs746764639 		0.882 0.080 22 19962714 missense variant T/C snv 2.4E-05 3.5E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs757163626
rs757163626 		0.827 0.120 22 19962726 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008