Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4796793
rs4796793
STAT3
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation BEFREE A significant association was found between rs4796793 alleles and tumor response [G vs. C, odds ratio (OR) 3.25, 95 % confidence interval (CI) 1.30-8.07]. 26833481

2016
dbSNP: rs2293152
rs2293152
STAT3
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 GeneticVariation BEFREE A significantly increased frequency of the GG genotype of the STAT3 rs2293152 was observed in patients with BD (Bonferroni-corrected P value = 0.021). 22205606

2012
dbSNP: rs744166
rs744166
STAT3
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.010 GeneticVariation BEFREE A statistically significant association of the STAT3 rs744166(∗)G allele with PsA was observed (P-value=1.36×10(-3), OR 1.35). 23127549

2013
dbSNP: rs7211777
rs7211777
STAT3
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE According to Akaike's information criterion, the best model to describe the relationship between the haplotypes and BC was based on the SNPs rs6503691 (STAT5B) and rs7211777 (STAT3). 17639043

2007
dbSNP: rs7211777
rs7211777
STAT3
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 GeneticVariation BEFREE According to Akaike's information criterion, the best model to describe the relationship between the haplotypes and BC was based on the SNPs rs6503691 (STAT5B) and rs7211777 (STAT3). 17639043

2007
dbSNP: rs869312892
rs869312892
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 GeneticVariation UNIPROT Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
dbSNP: rs587777650
rs587777650
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 GeneticVariation UNIPROT Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
dbSNP: rs587777649
rs587777649
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 GeneticVariation UNIPROT Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
dbSNP: rs587777648
rs587777648
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 GeneticVariation UNIPROT Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
dbSNP: rs869312892
rs869312892
STAT3
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		A 0.700 CausalMutation CLINVAR Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
dbSNP: rs869312892
rs869312892
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 Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. 25038750

2014
dbSNP: rs8074524
rs8074524
STAT3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 GeneticVariation BEFREE Additionally, rs10758669 and rs2293152 in Crohn's disease and rs8074524, rs3816769, and rs10758669 in ulcerative colitis were associated with the requirement of immunsuppression. 27852544

2016
dbSNP: rs3816769
rs3816769
STAT3
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 GeneticVariation BEFREE Additionally, rs10758669 and rs2293152 in Crohn's disease and rs8074524, rs3816769, and rs10758669 in ulcerative colitis were associated with the requirement of immunsuppression. 27852544

2016
dbSNP: rs2293152
rs2293152
STAT3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 GeneticVariation BEFREE Additionally, rs10758669 and rs2293152 in Crohn's disease and rs8074524, rs3816769, and rs10758669 in ulcerative colitis were associated with the requirement of immunsuppression. 27852544

2016
dbSNP: rs744166
rs744166
STAT3
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.020 GeneticVariation BEFREE Allele A of STAT3 SNP rs744166 A>G was significantly more frequent in both HT and GD patients, while allele G was significantly more frequent in the control group. 26204395

2015
dbSNP: rs744166
rs744166
STAT3
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 GeneticVariation BEFREE Allele A of STAT3 SNP rs744166 A>G was significantly more frequent in both HT and GD patients, while allele G was significantly more frequent in the control group. 26204395

2015
dbSNP: rs744166
rs744166
STAT3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.870 GeneticVariation BEFREE Allelic association analysis (two-tailed) showed that three of the five targeted SNPs were significantly associated with overall susceptibility for CD (ZNF365, r10995271, P = 0.001; PTPN2, rs1893217, P = 0.005; STAT3, rs744166, P = 0.01). 20222910

2010
dbSNP: rs869312892
rs869312892
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 GeneticVariation UNIPROT An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. 28073828

2017
dbSNP: rs587777650
rs587777650
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 GeneticVariation UNIPROT An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. 28073828

2017
dbSNP: rs587777649
rs587777649
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 GeneticVariation UNIPROT An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. 28073828

2017
dbSNP: rs587777648
rs587777648
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 GeneticVariation UNIPROT An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. 28073828

2017
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. 28073828

2017
dbSNP: rs12942547
rs12942547
STAT3
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs12942547
rs12942547
STAT3
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016