Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2293152
rs2293152
STAT3
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.020 GeneticVariation BEFREE While rs2293152</span> (GC) was protective, rs2293152 (CC) increased the susceptibility to ulcerative colitis (p=0.009, p=0.001). 27852544

2016
dbSNP: rs9891119
rs9891119
STAT3
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 GeneticVariation BEFREE When we tested the hypothesis of a relation between the gene variants and the clinical and histological spectrum of NAFLD by multinomial analysis, a sig</span>nificant association was observed with rs9891119 (P=0.02). 18789715

2008
dbSNP: rs744166
rs744166
STAT3
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.820 GeneticVariation BEFREE We observed a nominally significant, albeit weak association between rs744166 and MS susceptibility (odds ratio = 1.09, P = 0.012) in our sample. 22095036

2012
dbSNP: rs2291282
rs2291282
STAT3
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 GeneticVariation BEFREE We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, rs2291281, and rs2291282 of STAT3 gene in 667 patients with autoimmune thyroid disease (417 Graves' disease (GD) and 250 Hashimoto's thyroiditis (HT)) and 301 healthy controls. 24081513

2013
dbSNP: rs2291282
rs2291282
STAT3
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 GeneticVariation BEFREE We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, rs2291281, and rs2291282 of STAT3 gene in 667 patients with autoimmune thyroid disease (417 Graves' disease (GD) and 250 Hashimoto's thyroiditis (HT)) and 301 healthy controls. 24081513

2013
dbSNP: rs2291282
rs2291282
STAT3
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		0.010 GeneticVariation BEFREE We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, rs2291281, and rs2291282 of STAT3 gene in 667 patients with autoimmune thyroid disease (417 Graves' disease (GD) and 250 Hashimoto's thyroiditis (HT)) and 301 healthy controls. 24081513

2013
dbSNP: rs744166
rs744166
STAT3
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation BEFREE We found that rs744166 in STAT3 was associated with colon cancer risk in two studies; however, the direction of the observation was reversed in TP53 mutant tumors possibly due to a nullification of the effect by mutant p53. 25132422

2014
dbSNP: rs744166
rs744166
STAT3
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 GeneticVariation BEFREE We found that rs744166 in STAT3 was associated with colon cancer risk in two studies; however, the direction of the observation was reversed in TP53 mutant tumors possibly due to a nullification of the effect by mutant p53. 25132422

2014
dbSNP: rs744166
rs744166
STAT3
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 GeneticVariation BEFREE We found that rs744166 in STAT3 was associated with colon cancer risk in two studies; however, the direction of the observation was reversed in TP53 mutant tumors possibly due to a nullification of the effect by mutant p53. 25132422

2014
dbSNP: rs1053005
rs1053005
STAT3
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 GeneticVariation BEFREE We first explored the associations between two common variants (rs1053004 and rs1053005) and PC risk in 774 PC cases and 777 controls. 27577070

2016
dbSNP: rs1053005
rs1053005
STAT3
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 GeneticVariation BEFREE We first explored the associations between two common variants (rs1053004 and rs1053005) and PC risk in 774 PC cases and 777 controls. 27577070

2016
dbSNP: rs769031989
rs769031989
STAT3
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 GeneticVariation BEFREE We developed liver cancer cell lines that endogenously expressed a mutant form of TP53 (R249S) or overexpressed mutant forms of STAT3 (D170Y, K348E, and Y640F) or JAK1 (S703I and L910P) and tested the abilities of pharmacologic agents to reduce activity. 31560893

2019
dbSNP: rs769031989
rs769031989
STAT3
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		0.010 GeneticVariation BEFREE We developed liver cancer cell lines that endogenously expressed a mutant form of TP53 (R249S) or overexpressed mutant forms of STAT3 (D170Y, K348E, and Y640F) or JAK1 (S703I and L910P) and tested the abilities of pharmacologic agents to reduce activity. 31560893

2019
dbSNP: rs769031989
rs769031989
STAT3
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 GeneticVariation BEFREE We developed liver cancer cell lines that endogenously expressed a mutant form of TP53 (R249S) or overexpressed mutant forms of STAT3 (D170Y, K348E, and Y640F) or JAK1 (S703I and L910P) and tested the abilities of pharmacologic agents to reduce activity. 31560893

2019
dbSNP: rs744166
rs744166
STAT3
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.030 GeneticVariation BEFREE We could confirm the susceptibility of STAT3 rs744166 TT homozygotes for UC (OR: 1.483, 95% CI: 1.103-1.992, P = 0.009). 22269120

2012
dbSNP: rs9891119
rs9891119
STAT3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		A 0.810 GeneticVariation GWASDB We confirmed associations of Crohn's disease with variants in MHC (rs7765379, P = 2.11 × 10(-59)), TNFSF15 (rs6478106, P = 3.87 × 10(-45)), and STAT3 (rs9891119, P = 2.24 × 10(-14)). 23266558

2013
dbSNP: rs9891119
rs9891119
STAT3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		A 0.810 GeneticVariation GWASCAT We confirmed associations of Crohn's disease with variants in MHC (rs7765379, P = 2.11 × 10(-59)), TNFSF15 (rs6478106, P = 3.87 × 10(-45)), and STAT3 (rs9891119, P = 2.24 × 10(-14)). 23266558

2013
dbSNP: rs9891119
rs9891119
STAT3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.810 GeneticVariation BEFREE We confirmed associations of Crohn's disease with variants in MHC (rs7765379, P = 2.11 × 10(-59)), TNFSF15 (rs6478106, P = 3.87 × 10(-45)), and STAT3 (rs9891119, P = 2.24 × 10(-14)). 23266558

2013
dbSNP: rs113994136
rs113994136
STAT3
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.020 GeneticVariation BEFREE We and others have shown that the minor, nonconserved allele Gln381 of the Arg381Gln single-nucleotide polymorphism (rs11209026G>A) of the IL-23 receptor gene (IL23R) protects against psoriasis. 23563201

2013
dbSNP: rs113994135
rs113994135
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients. 24452316

2014
dbSNP: rs113994135
rs113994135
STAT3
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		A 0.700 CausalMutation CLINVAR Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients. 24452316

2014
dbSNP: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 CausalMutation CLINVAR Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients. 20032313

2010
dbSNP: rs1053023
rs1053023
STAT3
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.010 GeneticVariation BEFREE Two-locus (rs1053004/rs1053023) haplotype analysis revealed increased frequency of CG and CA haplotypes in RM patients, of which only CA haplotype (Pc = 0.020) remained positively associated with RM after applying the Bonferroni correction. 20059466

2010
dbSNP: rs34846688
rs34846688
STAT3
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		CTT 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418

2019
dbSNP: rs744166
rs744166
STAT3
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		0.010 GeneticVariation BEFREE To determine the frequency of the genotype of signal transducer and activator of transcription protein 3 (STAT3) rs744166, sirtuin (SIRT1) rs12778366, fibroblast growth factor (FGFR2) rs2981582, and advanced glycosylation end product-specific receptor (RAGE) rs1800625 gene polymorphisms in patients with laryngeal squamous cell carcinoma (LSCC). 31781300

2019