rs121434353
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121434354
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555600214
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
Reduced natural killer cell activity
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555600214
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555600214
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
Unexplained fevers
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555600214
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
Histiocytosis haematophagic
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555600214
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
Hepatomegaly
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555601754
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555601863
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
Histiocytosis haematophagic
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555601863
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
Hepatomegaly
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555601863
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
Unexplained fevers
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555601863
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555601863
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
Reduced natural killer cell activity
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1567816070
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
GTCCA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1567818219
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
TCGGACAAGGTA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1567818774
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs763117746
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs796065024
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs796065025
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs796065026
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
GA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121434352
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
|
14622600 |
2003 |
rs201908137
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
|
14622600 |
2003 |
rs754882266
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
|
14622600 |
2003 |
rs777759523
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
T |
0.700 |
CausalMutation |
CLINVAR |
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
|
14622600 |
2003 |
rs121434352
|
Entrez Id: |
201294 |
Gene Symbol: |
UNC13D |
UNC13D
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
|
16278825 |
2006 |