Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918683
rs121918683
MYC ; CASC11
0.700 GeneticVariation UNIPROT

dbSNP: rs121918685
rs121918685
MYC ; CASC11
0.700 GeneticVariation UNIPROT

dbSNP: rs267608150
rs267608150
PMS2
CTTCACACACA 0.700 CausalMutation CLINVAR

dbSNP: rs28933407
rs28933407
MYC ; CASC11
0.700 GeneticVariation UNIPROT

dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR

dbSNP: rs397518423
rs397518423
PIK3CD
0.010 GeneticVariation BEFREE We also detected a heterozygous E1021K PIK3CD mutation, thus increasing the spectrum of somatic mutations altering the PI3K signaling pathway in BL. 30779244

2019
dbSNP: rs146054764
rs146054764
CASP9
0.010 GeneticVariation BEFREE H237P mutation was detected in two patients: Pt1 with autoimmunity/lymphoproliferation, severe hypogammaglobulinemia and Pt2 with mild hypogammaglobulinemia and Burkitt lymphoma. 25569260

2015
dbSNP: rs1057519953
rs1057519953
RHOA
0.010 GeneticVariation BEFREE Among the 78 BLs in this series, an additional five had RHOA mutations resulting in a total incidence of 7/82 (8.5%) with c.14G>A (p.R5Q) being present in three cases. 25044415

2014
dbSNP: rs747141352
rs747141352
MYC ; CASC11
0.010 GeneticVariation BEFREE Among the 78 BLs in this series, an additional five had RHOA mutations resulting in a total incidence of 7/82 (8.5%) with c.14G>A (p.R5Q) being present in three cases. 25044415

2014
dbSNP: rs923910999
rs923910999
RTEL1 ; RTEL1-TNFRSF6B
0.010 GeneticVariation BEFREE Among the 78 BLs in this series, an additional five had RHOA mutations resulting in a total incidence of 7/82 (8.5%) with c.14G>A (p.R5Q) being present in three cases. 25044415

2014
dbSNP: rs352140
rs352140
TLR9
0.010 GeneticVariation BEFREE Moreover, ODN CpG-2006-induced cell death responses of BL cells were associated with TLR9 single-nucleotide polymorphisms (SNPs) rs5743836 or rs352140, which we detected in primary BL tumors and in peripheral blood from healthy individuals at similar frequencies. 22717578

2012
dbSNP: rs5743836
rs5743836
TLR9
0.010 GeneticVariation BEFREE Moreover, ODN CpG-2006-induced cell death responses of BL cells were associated with TLR9 single-nucleotide polymorphisms (SNPs) rs5743836 or rs352140, which we detected in primary BL tumors and in peripheral blood from healthy individuals at similar frequencies. 22717578

2012
dbSNP: rs63750264
rs63750264
APP
0.010 GeneticVariation BEFREE We also show that BL significantly increased the amount of sAPP alpha and reduced A beta 40 in the brains of APP[V717I] transgenic mice. 15263077

2004