rs886043118, STAT1

N. diseases: 5
Disease: IMMUNODEFICIENCY 31B ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
IMMUNODEFICIENCY 31B
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
0.700 CausalMutation CLINVAR A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature. 27117246 2018
IMMUNODEFICIENCY 31B
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016