Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852677
rs137852677
STAT1
0.800 GeneticVariation UNIPROT Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. 22573496

2012
dbSNP: rs137852679
rs137852679
STAT1
0.800 GeneticVariation UNIPROT Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. 22573496

2012
dbSNP: rs137852680
rs137852680
STAT1
0.800 GeneticVariation UNIPROT Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. 22573496

2012
dbSNP: rs587777704
rs587777704
STAT1
0.800 GeneticVariation UNIPROT Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. 22573496

2012
dbSNP: rs587777705
rs587777705
STAT1
0.800 GeneticVariation UNIPROT Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. 22573496

2012
dbSNP: rs137852677
rs137852677
STAT1
0.800 GeneticVariation UNIPROT Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. 16934001

2006
dbSNP: rs137852679
rs137852679
STAT1
0.800 GeneticVariation UNIPROT Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. 16934001

2006
dbSNP: rs137852680
rs137852680
STAT1
0.800 GeneticVariation UNIPROT Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. 16934001

2006
dbSNP: rs587777704
rs587777704
STAT1
0.800 GeneticVariation UNIPROT Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. 16934001

2006
dbSNP: rs587777705
rs587777705
STAT1
0.800 GeneticVariation UNIPROT Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. 16934001

2006
dbSNP: rs137852677
rs137852677
STAT1
0.800 GeneticVariation UNIPROT Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. 11452125

2001
dbSNP: rs137852679
rs137852679
STAT1
0.800 GeneticVariation UNIPROT Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. 11452125

2001
dbSNP: rs137852680
rs137852680
STAT1
0.800 GeneticVariation UNIPROT Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. 11452125

2001
dbSNP: rs587777704
rs587777704
STAT1
0.800 GeneticVariation UNIPROT Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. 11452125

2001
dbSNP: rs587777705
rs587777705
STAT1
0.800 GeneticVariation UNIPROT Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. 11452125

2001
dbSNP: rs137852677
rs137852677
STAT1
G 0.800 CausalMutation CLINVAR

dbSNP: rs137852679
rs137852679
STAT1
A 0.800 CausalMutation CLINVAR

dbSNP: rs137852680
rs137852680
STAT1
G 0.800 CausalMutation CLINVAR

dbSNP: rs587777704
rs587777704
STAT1
C 0.800 CausalMutation CLINVAR

dbSNP: rs587777705
rs587777705
STAT1
C 0.800 CausalMutation CLINVAR

dbSNP: rs387906758
rs387906758
STAT1
C 0.700 GeneticVariation CLINVAR Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. 28258222

2017
dbSNP: rs587777630
rs587777630
STAT1
A 0.700 CausalMutation CLINVAR A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 28597685

2017
dbSNP: rs1085307649
rs1085307649
STAT1
T 0.700 GeneticVariation CLINVAR Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 27114460

2016
dbSNP: rs1553496850
rs1553496850
STAT1
C 0.700 GeneticVariation CLINVAR Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 27114460

2016
dbSNP: rs387906758
rs387906758
STAT1
C 0.700 GeneticVariation CLINVAR The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 26604104

2016