Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312892
rs869312892
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994 2015
dbSNP: rs869312892
rs869312892
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C4721531
Disease:
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