Gene: CEBPA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931590
rs28931590
CEBPA ; CEBPA-DT
0.800 GeneticVariation UNIPROT Acute myeloblastic leukaemias in adult patients: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. 23970018

2013
dbSNP: rs28931590
rs28931590
CEBPA ; CEBPA-DT
0.800 GeneticVariation UNIPROT NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 22138009

2011
dbSNP: rs28931590
rs28931590
CEBPA ; CEBPA-DT
0.800 GeneticVariation UNIPROT Mutation of CEBPA in familial acute myeloid leukemia. 15575056

2004
dbSNP: rs28931590
rs28931590
CEBPA ; CEBPA-DT
0.800 GeneticVariation UNIPROT Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2. 12661007

2003
dbSNP: rs28931590
rs28931590
CEBPA ; CEBPA-DT
0.800 GeneticVariation UNIPROT Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. 11242107

2001
dbSNP: rs28931590
rs28931590
CEBPA ; CEBPA-DT
A 0.800 CausalMutation CLINVAR

dbSNP: rs1060502121
rs1060502121
CEBPA ; CEBPA-DT
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121912791
rs121912791
CEBPA ; CEBPA-DT
A 0.700 CausalMutation CLINVAR

dbSNP: rs137852728
rs137852728
CEBPA ; CEBPA-DT
C 0.700 CausalMutation CLINVAR

dbSNP: rs137852728
rs137852728
CEBPA ; CEBPA-DT
CG 0.700 CausalMutation CLINVAR

dbSNP: rs137852730
rs137852730
CEBPA ; CEBPA-DT
C 0.700 CausalMutation CLINVAR

dbSNP: rs137852731
rs137852731
CEBPA ; CEBPA-DT
TGTAG 0.700 CausalMutation CLINVAR

dbSNP: rs137852732
rs137852732
CEBPA ; CEBPA-DT
TCA 0.700 CausalMutation CLINVAR

dbSNP: rs137852733
rs137852733
CEBPA ; CEBPA-DT
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1555741948
rs1555741948
CEBPA ; CEBPA-DT
AGCTGTTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCT 0.700 CausalMutation CLINVAR

dbSNP: rs1555741967
rs1555741967
CEBPA ; CEBPA-DT
TCAGCTCCAGCACCTTCTGCTGCGTCTC 0.700 CausalMutation CLINVAR

dbSNP: rs1555742213
rs1555742213
CEBPA ; CEBPA-DT
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555742295
rs1555742295
CEBPA ; CEBPA-DT
CG 0.700 CausalMutation CLINVAR

dbSNP: rs587776848
rs587776848
CEBPA ; CEBPA-DT
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776849
rs587776849
CEBPA ; CEBPA-DT
GCGGC 0.700 CausalMutation CLINVAR

dbSNP: rs1356845856
rs1356845856
CEBPA ; CEBPA-DT
0.010 GeneticVariation BEFREE We identified five IDH1 mutations that were novel to AML: (1) c.299 G>A, p.R100Q; (2) c.311G>T, p.G104V; (3) c.322T>C, p.F108L; (4) c.356G>A, p.R119Q; and (5) c.388A>G, p.I130V. 24376688

2013
dbSNP: rs919904139
rs919904139
CEBPA ; CEBPA-DT
0.010 GeneticVariation BEFREE We identified five IDH1 mutations that were novel to AML: (1) c.299 G>A, p.R100Q; (2) c.311G>T, p.G104V; (3) c.322T>C, p.F108L; (4) c.356G>A, p.R119Q; and (5) c.388A>G, p.I130V. 24376688

2013