IL36RN, interleukin 36 receptor antagonist, 26525

N. diseases: 47; N. variants: 22
Disease: Generalized pustular psoriasis ×
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: rs144478519
rs144478519 		0.925 0.120 2 113062547 stop gained C/A;T snv 4.0E-06; 2.9E-03
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.810 1.000 7 2011 2016
dbSNP: rs151325121
rs151325121 		1.000 0.040 2 113062150 missense variant C/T snv 2.7E-04 9.8E-05
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 3 2011 2013
dbSNP: rs387906914
rs387906914 		1.000 0.040 2 113060902 missense variant T/C snv 2.2E-04 2.1E-05
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 3 2011 2013
dbSNP: rs397514629
rs397514629 		1.000 0.040 2 113062577 missense variant C/G;T snv 4.0E-05
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 3 2011 2013
dbSNP: rs148755083
rs148755083 		1.000 0.040 2 113060943 splice region variant T/C snv 1.0E-03 2.0E-04
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 7 2013 2017
dbSNP: rs139497891
rs139497891 		1.000 0.040 2 113062235 missense variant C/T snv 2.9E-04 1.3E-04
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 6 2013 2016
dbSNP: rs187015338
rs187015338 		1.000 0.040 2 113060926 missense variant A/G snv 1.8E-04 5.6E-05
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs199932303
rs199932303 		1.000 0.040 2 113062513 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs28938771
rs28938771 		1.000 0.040 2 113059444 synonymous variant C/A;T snv 4.0E-06; 4.9E-04
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018