Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007
dbSNP: rs1114167651
rs1114167651
PTEN
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs112445441
rs112445441
KRAS
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007
dbSNP: rs121434596
rs121434596
NRAS
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007
dbSNP: rs121918453
rs121918453
PTPN11
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs121918454
rs121918454
PTPN11
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs121918464
rs121918464
PTPN11
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs1239105602
rs1239105602
PTEN ; KLLN
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs397507514
rs397507514
PTPN11
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs562015640
rs562015640
PTEN
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs757333753
rs757333753
RAF1
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007
dbSNP: rs770692189
rs770692189
BCL2L11 ; MIR4435-2HG
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660

2007
dbSNP: rs779530981
rs779530981
PTEN
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs917927904
rs917927904
PTEN ; KLLN
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs3745274
rs3745274
CYP2B6
0.010 GeneticVariation BEFREE This study demonstrates for the first time that the presence of the CYP2B6 G516T mutation increases the rate of 4-OH-CPA formation in patients with hematological malignancies. 16183265

2006
dbSNP: rs61754966
rs61754966
NBN
0.010 GeneticVariation BEFREE We screened healthy controls and pediatric patients with hematological malignancies and aplastic anemia (AA) for the presence of I171V. 15338273

2004
dbSNP: rs1217691063
rs1217691063
MTHFR
0.020 GeneticVariation BEFREE Differential effects of the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) on hematological malignancies among Latinos: a meta-analysis. 31188929

2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.020 GeneticVariation BEFREE MTHFR C677T polymorphism may be a good predictor for MTX toxicity in adult hematological malignancies. 27270164

2016
dbSNP: rs387907272
rs387907272
MYD88
0.020 GeneticVariation BEFREE However, the seminal discoveries of MYD88 (L265P) mutation, present in the vast majority (85-100 %), and CXCR4 (WHIM) mutations, identified in nearly a third of patients (who almost exclusively harbor the MYD88 (L265P) variant), have laid a solid foundation for a paradigm shift in our diagnostic and therapeutic approaches towards this rare hematologic malignancy. 26942591

2016
dbSNP: rs1042522
rs1042522
TP53
0.020 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015
dbSNP: rs1131691014
rs1131691014
TP53
0.020 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015
dbSNP: rs878854066
rs878854066
TP53
0.020 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015
dbSNP: rs387907272
rs387907272
MYD88
0.020 GeneticVariation BEFREE Although the absence of the MyD88 L265P somatic mutation in our SS cohort does not exclude a common germline susceptibility gene in SS, it might suggest a distinct operating pathogenetic mechanism in SS-related lymphoma compared with WM and other hematological malignancies. 24153350

2014
dbSNP: rs1042522
rs1042522
TP53
0.020 GeneticVariation BEFREE The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk. 23029260

2012
dbSNP: rs1131691014
rs1131691014
TP53
0.020 GeneticVariation BEFREE The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk. 23029260

2012