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: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C1840254
Disease: ATOPY, SUSCEPTIBILITY TO (finding)
ATOPY, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C1276072
Disease: Adult atopic dermatitis
Adult atopic dermatitis 		0.010 1.000 1 2000 2000
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C4749142
Disease: MASTOCYTOSIS, INDOLENT
MASTOCYTOSIS, INDOLENT 		0.010 1.000 1 2001 2001
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 < 0.001 1 2001 2001
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 < 0.001 1 2001 2001
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		0.010 1.000 1 2001 2001
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		0.010 1.000 1 2001 2001
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0947961
Disease: Atopic disorders
Atopic disorders 		0.010 1.000 1 2003 2003
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C1148477
Disease: Deafness, Sudden
Deafness, Sudden 		0.010 1.000 1 2006 2006
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.010 1.000 1 2008 2008
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization 		0.010 1.000 1 2009 2009
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2009 2009
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		0.010 1.000 1 2010 2010
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C3899278
Disease: Early Rheumatoid Arthritis
Early Rheumatoid Arthritis 		0.010 1.000 1 2010 2010
dbSNP: rs1801275
rs1801275
IL4R
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0035450
Disease: Rheumatoid Nodule
Rheumatoid Nodule 		0.010 1.000 1 2010 2010