Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2243248
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C0017638
Disease: Glioma
Glioma 		0.020 1.000 2 2007 2015
dbSNP: rs79071878
rs79071878
IL4 ; LOC105379176
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.020 < 0.001 2 2016 2018
dbSNP: rs2243248
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs2243248
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs2243248
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs2243248
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs2243248
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C0263859
Disease: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs2243248
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2013 2013
dbSNP: rs2243248
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs2243248
rs2243248
IL4
0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		0.010 1.000 1 2016 2016
dbSNP: rs2243289
rs2243289
IL4 ; LOC105379176
0.882 0.240 5 132682440 intron variant A/G snv 0.26 0.23
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 1.000 1 2011 2011
dbSNP: rs2243289
rs2243289
IL4 ; LOC105379176
0.882 0.240 5 132682440 intron variant A/G snv 0.26 0.23
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2243289
rs2243289
IL4 ; LOC105379176
0.882 0.240 5 132682440 intron variant A/G snv 0.26 0.23
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs79071878
rs79071878
IL4 ; LOC105379176
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2017 2017
dbSNP: rs79071878
rs79071878
IL4 ; LOC105379176
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs79071878
rs79071878
IL4 ; LOC105379176
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral 		0.010 1.000 1 2014 2014
dbSNP: rs79071878
rs79071878
IL4 ; LOC105379176
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs79071878
rs79071878
IL4 ; LOC105379176
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs79071878
rs79071878
IL4 ; LOC105379176
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2017 2017
dbSNP: rs79908535
rs79908535
IL4 ; LOC105379176
0.882 0.280 5 132679856 missense variant G/A snv 6.8E-05 2.8E-05
CUI: C0004096
Disease: Asthma
Asthma 		0.020 1.000 2 2000 2008
dbSNP: rs79908535
rs79908535
IL4 ; LOC105379176
0.882 0.280 5 132679856 missense variant G/A snv 6.8E-05 2.8E-05
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.010 1.000 1 2008 2008
dbSNP: rs79908535
rs79908535
IL4 ; LOC105379176
0.882 0.280 5 132679856 missense variant G/A snv 6.8E-05 2.8E-05
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs2227284
rs2227284
IL4
0.732 0.480 5 132677033 intron variant T/C;G snv
CUI: C0004096
Disease: Asthma
Asthma 		0.030 1.000 3 2013 2015
dbSNP: rs2227284
rs2227284
IL4
0.732 0.480 5 132677033 intron variant T/C;G snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.020 1.000 2 2013 2018
dbSNP: rs2227284
rs2227284
IL4
0.732 0.480 5 132677033 intron variant T/C;G snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2010 2010