Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312894
rs869312894
STAT3
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		T 0.700 CausalMutation CLINVAR Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. 25359994

2015