Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777650
rs587777650
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs587777649
rs587777649
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs587777648
rs587777648
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs397514766
rs397514766
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.800 CausalMutation CLINVAR

dbSNP: rs193922722
rs193922722
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs193922721
rs193922721
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922720
rs193922720
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922719
rs193922719
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs193922717
rs193922717
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922716
rs193922716
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555566820
rs1555566820
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555566820
rs1555566820
STAT3
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555563717
rs1555563717
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs113994138
rs113994138
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113994137
rs113994137
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113994136
rs113994136
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113994136
rs113994136
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

dbSNP: rs1131691476
rs1131691476
STAT3
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1131691476
rs1131691476
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1053004
rs1053004
STAT3
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.030 GeneticVariation BEFREE <b>Conclusions:</b> The meta-analysis showed that <i>STAT3</i> rs1053004 polymorphism may be the risk for developing chronic HBV infection but not associated with HCC. 31160486

2019
dbSNP: rs1053004
rs1053004
STAT3
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 GeneticVariation BEFREE <b>Conclusions:</b> The meta-analysis showed that <i>STAT3</i> rs1053004 polymorphism may be the risk for developing chronic HBV infection but not associated with HCC. 31160486

2019
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR 54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Barcelona, Spain, October 1-3, 2015: Abstracts. 26394394

2015
dbSNP: rs113994136
rs113994136
STAT3
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		0.010 GeneticVariation BEFREE Inflammatory disease protective R381Q IL23 receptor polymorphism results in decreased primary CD4+ and CD8+ human T-cell functional responses. 21606346

2011
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID). 29180260

2018
dbSNP: rs1064794957
rs1064794957
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation. 26343524

2015