Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853064
rs137853064
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
0.800 GeneticVariation UNIPROT Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. 24316379 2014
dbSNP: rs137853065
rs137853065
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
0.800 GeneticVariation UNIPROT Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. 24316379 2014
dbSNP: rs137853064
rs137853064
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
0.800 GeneticVariation UNIPROT Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. 21057262 2010
dbSNP: rs137853065
rs137853065
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
0.800 GeneticVariation UNIPROT Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. 21057262 2010
dbSNP: rs137853064
rs137853064
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
0.800 GeneticVariation UNIPROT Structural basis for the multiple interactions of the MyD88 TIR domain in TLR4 signaling. 19506249 2009
dbSNP: rs137853065
rs137853065
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
0.800 GeneticVariation UNIPROT Structural basis for the multiple interactions of the MyD88 TIR domain in TLR4 signaling. 19506249 2009
dbSNP: rs137853064
rs137853064
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
0.800 GeneticVariation UNIPROT Pyogenic bacterial infections in humans with MyD88 deficiency. 18669862 2008
dbSNP: rs137853065
rs137853065
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
0.800 GeneticVariation UNIPROT Pyogenic bacterial infections in humans with MyD88 deficiency. 18669862 2008
dbSNP: rs137853064
rs137853064
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
T 0.800 CausalMutation CLINVAR
dbSNP: rs137853065
rs137853065
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
C 0.800 CausalMutation CLINVAR
dbSNP: rs746651350
rs746651350
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
C 0.700 CausalMutation CLINVAR
dbSNP: rs878852993
rs878852993
Entrez Id: 30;4615
Gene Symbol: ACAA1;MYD88
ACAA1;MYD88
CUI: C2677092
Disease:
MYD88 Deficiency
C 0.700 CausalMutation CLINVAR
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.100 GeneticVariation BEFREE MYD88 p.L265P and CD79B p.Y196C/H mutations were analyzed in diffuse large B-cell lymphoma (DLBCL) patients whose tumor samples were available (N = 29). 31436356 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0024419
Disease:
Waldenstrom Macroglobulinemia
0.100 GeneticVariation BEFREE <i>Results</i>: MYD88 L265P mutations were detected in 22 of 29 samples from 14 patients with diffuse large B-cell lymphomas and one patient with lymphoplasmacytoid lymphoma. 31603365 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0334633
Disease:
Malignant lymphoma - lymphoplasmacytic
0.100 GeneticVariation BEFREE MYD88 L265P is the most common mutation in lymphoplasmacytic lymphoma/Waldenström macroglobulinemia (LPL/WM) and one of the most frequent in poor-prognosis subtypes of diffuse large B-cell lymphoma (DLBCL). 31698464 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0024299
Disease:
Lymphoma
0.100 GeneticVariation BEFREE MYD88 L265P MUTATION DETECTION IN THE AQUEOUS HUMOR OF PATIENTS WITH VITREORETINAL LYMPHOMA. 30204732 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0334633
Disease:
Malignant lymphoma - lymphoplasmacytic
0.100 GeneticVariation BEFREE The diagnosis of WM is established by the presence of lymphoplasmacytic lymphoma in the bone marrow or other organs, a monoclonal IgM paraproteinemia and the recurrent MYD88 L265P somatic mutation. 31591468 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.100 GeneticVariation BEFREE High frequencies of the hotspot <i>MYD88</i>(L265P) mutation are observed in extranodal diffuse large B-cell lymphoma and Waldenström macroglobulinemia, thereby demonstrating this mutation's potential as a disease marker. 31699794 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0024419
Disease:
Waldenstrom Macroglobulinemia
0.100 GeneticVariation BEFREE Detection of MYD88 L265P mutation by next-generation deep sequencing in peripheral blood mononuclear cells of Waldenström's macroglobulinemia and IgM monoclonal gammopathy of undetermined significance. 31483817 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.100 GeneticVariation BEFREE MYD88 L265P is the most common mutation in lymphoplasmacytic lymphoma/Waldenström macroglobulinemia (LPL/WM) and one of the most frequent in poor-prognosis subtypes of diffuse large B-cell lymphoma (DLBCL). 31698464 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.100 GeneticVariation BEFREE <i>Results</i>: MYD88 L265P mutations were detected in 22 of 29 samples from 14 patients with diffuse large B-cell lymphomas and one patient with lymphoplasmacytoid lymphoma. 31603365 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0334633
Disease:
Malignant lymphoma - lymphoplasmacytic
0.100 GeneticVariation BEFREE <i>Results</i>: MYD88 L265P mutations were detected in 22 of 29 samples from 14 patients with diffuse large B-cell lymphomas and one patient with lymphoplasmacytoid lymphoma. 31603365 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0024419
Disease:
Waldenstrom Macroglobulinemia
0.100 GeneticVariation BEFREE The diagnosis of WM is established by the presence of lymphoplasmacytic lymphoma in the bone marrow or other organs, a monoclonal IgM paraproteinemia and the recurrent MYD88 L265P somatic mutation. 31591468 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0024419
Disease:
Waldenstrom Macroglobulinemia
0.100 GeneticVariation BEFREE High frequencies of the hotspot <i>MYD88</i>(L265P) mutation are observed in extranodal diffuse large B-cell lymphoma and Waldenström macroglobulinemia, thereby demonstrating this mutation's potential as a disease marker. 31699794 2019
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0024299
Disease:
Lymphoma
0.100 GeneticVariation BEFREE Four cases of small lymphocyte-predominant benign PE from patients without history of lymphoma were examined and were all negative for MYD88 L265P mutation. 31556196 2019