Disease: IMMUNODEFICIENCY 31B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307649
rs1085307649
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C3151088
Disease:
IMMUNODEFICIENCY 31B 		T 0.700 GeneticVariation CLINVAR Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 27114460 2016