TYK2, tyrosine kinase 2, 7297

N. diseases: 172; N. variants: 22
Disease: Lupus Erythematosus, Systemic ×
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: rs2304256
rs2304256 		0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.770 1.000 9 2009 2019
dbSNP: rs34536443
rs34536443 		0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.730 1.000 4 2015 2019
dbSNP: rs11085725
rs11085725 		0.851 0.160 19 10351837 intron variant C/T snv 0.24
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11085727
rs11085727 		1.000 0.080 19 10355447 intron variant C/T snv 0.24
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs34725611
rs34725611 		1.000 0.080 19 10366391 intron variant A/G snv 0.28 0.23
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12720270
rs12720270 		0.851 0.240 19 10365084 intron variant G/A snv 0.21 0.16
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.030 1.000 3 2009 2019
dbSNP: rs280500
rs280500 		0.882 0.200 19 10379726 5 prime UTR variant A/G snv 0.20
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2015 2019
dbSNP: rs12720356
rs12720356 		0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs280519
rs280519 		0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs35018800
rs35018800 		0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs8108236
rs8108236 		0.925 0.120 19 10355156 intron variant G/A snv 9.3E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2015 2015