Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation CLINVAR RUNX1 mutation associated with clonal evolution in relapsed pediatric acute myeloid leukemia with t(16;21)(p11;q22). 24374719 2014
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation CLINVAR Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial. 24659740 2014
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation CLINVAR Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial. 24659740 2014
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation CLINVAR Minimal residual disease monitoring in t(8;21) acute myeloid leukemia based on RUNX1-RUNX1T1 fusion quantification on genomic DNA. 24616160 2014
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation CLINVAR RUNX1 mutation associated with clonal evolution in relapsed pediatric acute myeloid leukemia with t(16;21)(p11;q22). 24374719 2014
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation CLINVAR Minimal residual disease monitoring in t(8;21) acute myeloid leukemia based on RUNX1-RUNX1T1 fusion quantification on genomic DNA. 24616160 2014
dbSNP: rs1057519750
rs1057519750
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation CLINVAR Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial. 24659740 2014
dbSNP: rs1057519750
rs1057519750
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation CLINVAR High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 19357396 2009
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs2249650
rs2249650
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE To sum up, rs2268276 and especially rs2249650 may be qualified as new acute myeloid leukemia susceptibility-associated SNPs. 26374622 2016
dbSNP: rs2268276
rs2268276
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE To sum up, rs2268276 and especially rs2249650 may be qualified as new acute myeloid leukemia susceptibility-associated SNPs. 26374622 2016
dbSNP: rs757412228
rs757412228
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE We identified TET2 and PTPN11 mutations in both mouse and human AML and then demonstrated the ability of Tet2 loss and PTPN11 D61Y to initiate leukemogenesis in concert with expression of AML1-ETO in vivo. 26666262 2016
dbSNP: rs1482518887
rs1482518887
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE KRAS (G12D) cooperates with AML1/ETO to initiate a mouse model mimicking human acute myeloid leukemia. 24480914 2014
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE RUNX1, which regulates a gene for hematopoiesis, is frequently mutated in AML and, in this study, one out of three patients showed the mutation R174Q in RUNX1. 20694842 2010