Disease: IMMUNODEFICIENCY 31A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553496850
rs1553496850
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C4013950
Disease:
IMMUNODEFICIENCY 31A 		C 0.700 GeneticVariation CLINVAR Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 27114460 2016