COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
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: C0016053
Disease: Fibromyalgia
Fibromyalgia
Musculoskeletal Diseases; Nervous System Diseases 0.100 1.000 12 2007 2015
dbSNP: rs4818
rs4818
0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia
Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2012 2016
dbSNP: rs4633
rs4633
0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia
Musculoskeletal Diseases; Nervous System Diseases 0.010 < 0.001 1 2016 2016