Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514710
rs397514710
IRF8
0.810 GeneticVariation UNIPROT Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. 25122610

2014
dbSNP: rs397514710
rs397514710
IRF8
0.810 GeneticVariation BEFREE Autosomal recessive IRF8 deficiency is caused by mutation K108E and associated with severe disease with complete depletion of monocytes and dendritic cells. 23468103

2013
dbSNP: rs397514710
rs397514710
IRF8
0.810 GeneticVariation UNIPROT IRF8 mutations and human dendritic-cell immunodeficiency. 21524210

2011
dbSNP: rs397514710
rs397514710
IRF8
G 0.810 CausalMutation CLINVAR

dbSNP: rs774835569
rs774835569
IRF8 ; MIR6774
T 0.700 CausalMutation CLINVAR

dbSNP: rs771694484
rs771694484
IFNG ; IFNG-AS1
0.010 GeneticVariation BEFREE Autosomal recessive IRF8 deficiency is caused by mutation K108E and associated with severe disease with complete depletion of monocytes and dendritic cells. 23468103

2013