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: rs397514766
rs397514766
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
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
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT STAT3 mutations in the hyper-IgE syndrome. 17881745

2007
dbSNP: rs193922721
rs193922721
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT STAT3 mutations in the hyper-IgE syndrome. 17881745

2007
dbSNP: rs193922721
rs193922721
STAT3
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
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: rs113994139
rs113994139
STAT3
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		T 0.700 CausalMutation CLINVAR STAT3 mutations in the hyper-IgE syndrome. 17881745

2007
dbSNP: rs113994139
rs113994139
STAT3
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		T 0.700 CausalMutation CLINVAR STAT3 mutations in the hyper-IgE syndrome. 17881745

2007