ECSIT, ECSIT signaling integrator, 51295

N. diseases: 4; N. variants: 2
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: rs145036301
rs145036301 		0.851 0.120 19 11513899 missense variant A/G snv 2.7E-03 9.4E-04
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs145036301
rs145036301 		0.851 0.120 19 11513899 missense variant A/G snv 2.7E-03 9.4E-04
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		Infections 0.010 1.000 1 2018 2018
dbSNP: rs145036301
rs145036301 		0.851 0.120 19 11513899 missense variant A/G snv 2.7E-03 9.4E-04
CUI: C1955906
Disease: Lymphoma, Extranodal NK-T-Cell
Lymphoma, Extranodal NK-T-Cell 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs145036301
rs145036301 		0.851 0.120 19 11513899 missense variant A/G snv 2.7E-03 9.4E-04
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs145036301
rs145036301 		0.851 0.120 19 11513899 missense variant A/G snv 2.7E-03 9.4E-04
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs373495105
rs373495105 		19 11507836 missense variant C/A;G;T snv 2.0E-05; 2.8E-05
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		Infections 0.010 1.000 1 2015 2015