Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0030489
Disease:
Paraproteinemias
0.030 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: C0030489
Disease:
Paraproteinemias
0.030 GeneticVariation BEFREE However, further studies are warranted to better define the biological significance of MYD-88 L265P mutation and to clarify whether the presence of the mutation establishes WM diagnosis or that it can also be present in borderline cases associated with paraproteinemia. 27734522 2017
dbSNP: rs387907272
rs387907272
Entrez Id: 4615
Gene Symbol: MYD88
MYD88
CUI: C0030489
Disease:
Paraproteinemias
0.030 GeneticVariation BEFREE SMZL cases positive for MYD88 L265P were also associated with monoclonal IgM paraproteinemia (4/13 cases; P<0.0283), although with less serum paraproteinemia. 25723115 2015