Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. 28258222 2017
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 28597685 2017
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 26604104 2016
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 26604104 2016
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation. 26242301 2016
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 26604104 2016
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. 26743090 2016
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 26604104 2016
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		C 0.800 GeneticVariation CLINVAR Orf Infection in a Patient with Stat1 Gain-of-Function. 25367169 2015
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR Orf Infection in a Patient with Stat1 Gain-of-Function. 25367169 2015
dbSNP: rs387906758
rs387906758
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). 26255980 2015
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		A 0.800 CausalMutation CLINVAR A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. 26494717 2015
dbSNP: rs387906759
rs387906759
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs387906760
rs387906760
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs387906761
rs387906761
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs387906762
rs387906762
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs387906763
rs387906763
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs387906764
rs387906764
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs387906765
rs387906765
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs387906766
rs387906766
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs387906767
rs387906767
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs387906768
rs387906768
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs587777628
rs587777628
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015
dbSNP: rs587777629
rs587777629
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3279990
Disease:
CANDIDIASIS, FAMILIAL, 7 		0.800 GeneticVariation UNIPROT A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. 26514428 2015