COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
Disease: Temporomandibular Joint Disorders ×
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: rs165656
rs165656 		0.925 0.200 22 19961340 intron variant G/A;C;T snv
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs165774
rs165774 		0.807 0.120 22 19965038 3 prime UTR variant G/A snv 0.27
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4818
rs4818 		0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5993882
rs5993882 		22 19950010 intron variant T/C;G snv
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6269
rs6269 		0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9332377
rs9332377 		0.882 0.120 22 19968169 intron variant C/A;T snv
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2020 2020