CASP8, caspase 8, 841

N. diseases: 480; N. variants: 32
Disease: Toxic Epidermal Necrolysis ×
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: rs1045485
rs1045485 		0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases 0.020 1.000 2 2012 2017
dbSNP: rs3834129
rs3834129 		0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases 0.010 1.000 1 2017 2017