Gene: STAT3 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994139
rs113994139
STAT3
T 0.700 CausalMutation CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208

2018
dbSNP: rs1555563871
rs1555563871
STAT3
T 0.700 CausalMutation CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208

2018
dbSNP: rs113994139
rs113994139
STAT3
T 0.700 CausalMutation CLINVAR Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand. 27980540

2016
dbSNP: rs886039434
rs886039434
STAT3
G 0.700 GeneticVariation CLINVAR TH17 Cells in STAT3 Related Hyper-IgE Syndrome. 27226025

2016
dbSNP: rs1555563871
rs1555563871
STAT3
T 0.700 CausalMutation CLINVAR Lipase-catalyzed acylation of microbial mannosylerythritol lipids (biosurfactants) and their characterization. 23584591

2013
dbSNP: rs1567713850
rs1567713850
STAT3
A 0.700 CausalMutation CLINVAR Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. 22751495

2012
dbSNP: rs113994139
rs113994139
STAT3
T 0.700 CausalMutation CLINVAR SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function. 21792878

2011
dbSNP: rs113994139
rs113994139
STAT3
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: rs113994139
rs113994139
STAT3
T 0.700 CausalMutation CLINVAR Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 20159255

2010
dbSNP: rs886039434
rs886039434
STAT3
G 0.700 GeneticVariation CLINVAR Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. 20816194

2010
dbSNP: rs113994139
rs113994139
STAT3
T 0.700 CausalMutation CLINVAR Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. 18602572

2008
dbSNP: rs113994139
rs113994139
STAT3
T 0.700 CausalMutation CLINVAR Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. 18706697

2008
dbSNP: rs113994139
rs113994139
STAT3
T 0.700 CausalMutation CLINVAR Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. 18978467

2008
dbSNP: rs1567713850
rs1567713850
STAT3
A 0.700 CausalMutation CLINVAR Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. 18591412

2008
dbSNP: rs113994139
rs113994139
STAT3
T 0.700 CausalMutation CLINVAR STAT3 mutations in the hyper-IgE syndrome. 17881745

2007
dbSNP: rs193922716
rs193922716
STAT3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs193922717
rs193922717
STAT3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922719
rs193922719
STAT3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs193922720
rs193922720
STAT3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922721
rs193922721
STAT3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922722
rs193922722
STAT3
G 0.700 GeneticVariation CLINVAR