Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906632
rs387906632
GATA2
A 0.700 CausalMutation CLINVAR Multiple Opportunistic Infections in a Woman with GATA2 Mutation. 27894982

2017
dbSNP: rs387906632
rs387906632
GATA2
A 0.700 CausalMutation CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222

2013
dbSNP: rs387906632
rs387906632
GATA2
A 0.700 CausalMutation CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158

2011