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: rs111904020
rs111904020
STAT3
1.000 0.080 17 42314141 3 prime UTR variant A/C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs869312893
rs869312893
STAT3
1.000 17 42329431 missense variant A/C snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs9891119
rs9891119
STAT3
0.882 0.120 17 42355962 intron variant A/C snv 0.36
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.810 1.000 1 2013 2013
dbSNP: rs9891119
rs9891119
STAT3
0.882 0.120 17 42355962 intron variant A/C snv 0.36
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.800 1.000 1 2011 2011
dbSNP: rs9891119
rs9891119
STAT3
0.882 0.120 17 42355962 intron variant A/C snv 0.36
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2008 2008
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.870 1.000 8 2008 2016
dbSNP: rs886039434
rs886039434
STAT3
0.925 0.120 17 42322404 missense variant A/G snv
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.700 1.000 4 2010 2018
dbSNP: rs886039434
rs886039434
STAT3
0.925 0.120 17 42322404 missense variant A/G snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 1.000 4 2010 2018
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.030 1.000 3 2012 2014
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 1.000 2 2014 2015
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2014 2016
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.820 1.000 2 2010 2012
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 1.000 2 2014 2015
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.020 1.000 2 2014 2015
dbSNP: rs886039434
rs886039434
STAT3
0.925 0.120 17 42322404 missense variant A/G snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 1.000 2 2010 2016
dbSNP: rs17886724
rs17886724
STAT3
0.925 0.040 17 42344145 intron variant A/G snv 0.35
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs17886724
rs17886724
STAT3
0.925 0.040 17 42344145 intron variant A/G snv 0.35
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.700 1.000 1 2015 2015
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma 		0.010 1.000 1 2017 2017
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0017152
Disease: Gastritis
Gastritis 		0.010 1.000 1 2015 2015
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0038362
Disease: Stomatitis
Stomatitis 		0.010 1.000 1 2017 2017
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2011 2011