TYK2, tyrosine kinase 2, 7297

N. diseases: 172; N. variants: 22
Disease: Adult type dermatomyositis ×
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: rs17000730
rs17000730 		0.882 0.120 19 10380572 5 prime UTR variant T/C snv 5.0E-03
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2304256
rs2304256 		0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs280501
rs280501 		0.882 0.120 19 10380646 upstream gene variant C/T snv 0.20
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs280519
rs280519 		0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017