Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs867160952
rs867160952
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		T 0.700 GeneticVariation CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158

2011