Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553496850
rs1553496850
STAT1
C 0.700 GeneticVariation CLINVAR Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 27114460

2016