Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514766
rs397514766
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777648
rs587777648
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777649
rs587777649
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs587777650
rs587777650
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4014795
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1131691476
rs1131691476
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4288261
Disease:
STAT3 Gain of Function 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1131691476
rs1131691476
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR
dbSNP: rs113994136
rs113994136
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs113994136
rs113994136
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994137
rs113994137
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs113994138
rs113994138
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555563717
rs1555563717
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555566820
rs1555566820
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4288261
Disease:
STAT3 Gain of Function 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555566820
rs1555566820
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs193922716
rs193922716
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3887645
Disease:
Job Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs193922717
rs193922717
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3887645
Disease:
Job Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs193922719
rs193922719
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3887645
Disease:
Job Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs193922720
rs193922720
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3887645
Disease:
Job Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs193922721
rs193922721
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3887645
Disease:
Job Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs193922722
rs193922722
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C3887645
Disease:
Job Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs193922721
rs193922721
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT STAT3 mutations in the hyper-IgE syndrome. 17881745 2007
dbSNP: rs193922721
rs193922721
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 17676033 2007
dbSNP: rs397514766
rs397514766
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 17676033 2007
dbSNP: rs397514766
rs397514766
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT STAT3 mutations in the hyper-IgE syndrome. 17881745 2007
dbSNP: rs1064794957
rs1064794957
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR STAT3 mutations in the hyper-IgE syndrome. 17881745 2007
dbSNP: rs113994135
rs113994135
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR STAT3 mutations in the hyper-IgE syndrome. 17881745 2007