Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568940507
rs1568940507
Entrez Id: 84905
Gene Symbol: ZNF341
ZNF341
CUI: C4748969
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
T 0.700 CausalMutation CLINVAR A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. 29907691 2018
dbSNP: rs376598954
rs376598954
Entrez Id: 84905
Gene Symbol: ZNF341
ZNF341
CUI: C4748969
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
G 0.700 CausalMutation CLINVAR A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. 29907691 2018
dbSNP: rs746141726
rs746141726
Entrez Id: 84905
Gene Symbol: ZNF341
ZNF341
CUI: C4748969
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
T 0.700 CausalMutation CLINVAR ZNF341 controls STAT3 expression and thereby immunocompetence. 29907690 2018
dbSNP: rs746141726
rs746141726
Entrez Id: 84905
Gene Symbol: ZNF341
ZNF341
CUI: C4748969
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
T 0.700 CausalMutation CLINVAR A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. 29907691 2018
dbSNP: rs982121798
rs982121798
Entrez Id: 84905
Gene Symbol: ZNF341
ZNF341
CUI: C4748969
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
T 0.700 CausalMutation CLINVAR ZNF341 controls STAT3 expression and thereby immunocompetence. 29907690 2018
dbSNP: rs1568945329
rs1568945329
Entrez Id: 84905
Gene Symbol: ZNF341
ZNF341
CUI: C4748969
Disease:
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
A 0.700 CausalMutation CLINVAR