Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434353
rs121434353
UNC13D
G 0.700 CausalMutation CLINVAR

dbSNP: rs121434354
rs121434354
UNC13D
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555600214
rs1555600214
UNC13D
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555601754
rs1555601754
UNC13D
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555601863
rs1555601863
UNC13D
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1567816070
rs1567816070
UNC13D
GTCCA 0.700 CausalMutation CLINVAR

dbSNP: rs1567818219
rs1567818219
UNC13D
TCGGACAAGGTA 0.700 CausalMutation CLINVAR

dbSNP: rs1567818774
rs1567818774
UNC13D
A 0.700 CausalMutation CLINVAR

dbSNP: rs763117746
rs763117746
UNC13D
A 0.700 CausalMutation CLINVAR

dbSNP: rs796065024
rs796065024
UNC13D
T 0.700 CausalMutation CLINVAR

dbSNP: rs796065025
rs796065025
UNC13D
T 0.700 CausalMutation CLINVAR

dbSNP: rs796065026
rs796065026
UNC13D
GA 0.700 CausalMutation CLINVAR

dbSNP: rs766657895
rs766657895
UNC13D
A 0.700 CausalMutation CLINVAR A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function. 21755595

2012
dbSNP: rs764196809
rs764196809
UNC13D
A 0.700 CausalMutation CLINVAR Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. 20823128

2010
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party. 24935083

2015
dbSNP: rs777759523
rs777759523
UNC13D
T 0.700 CausalMutation CLINVAR Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. 19704116

2009
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. 21931115

2011
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report. 23669735

2014
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3). 25573973

2015
dbSNP: rs777759523
rs777759523
UNC13D
T 0.700 CausalMutation CLINVAR First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3). 25573973

2015
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3). 25573973

2015
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea. 25553300

2015
dbSNP: rs1274685768
rs1274685768
UNC13D
A 0.700 GeneticVariation CLINVAR Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. 23180437

2013
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. 23180437

2013
dbSNP: rs764196809
rs764196809
UNC13D
A 0.700 CausalMutation CLINVAR Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. 26342526

2016