rs3824662, GATA3

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ph-Like Acute Lymphoblastic Leukemia
0.040 GeneticVariation BEFREE <i>GATA3</i> single nucleotide variant rs3824662 shows a strong association with Ph-like ALL (OR = 3.14). 30770347 2019
Ph-Like Acute Lymphoblastic Leukemia
0.040 GeneticVariation BEFREE The germline variant at rs3824662 in GATA3 is a risk locus for Philadelphia-like acute lymphoblastic leukemia (Ph-like ALL), the biological subtype of B-cell precursor (BCP)-ALL defined by a distinct gene expression profile and the presence of specific somatic aberrations including rearrangements of CRLF2. 30859636 2019
Ph-Like Acute Lymphoblastic Leukemia
0.040 GeneticVariation BEFREE The risk allele at rs3824662 was most frequent in Philadelphia chromosome (Ph)-like ALL but also conferred susceptibility to non-Ph-like ALL in AYAs. 25468567 2015
Ph-Like Acute Lymphoblastic Leukemia
0.040 GeneticVariation BEFREE The rs3824662 risk allele was associated with somatic lesions underlying Ph-like ALL (CRLF2 rearrangement, JAK gene mutation and IKZF1 deletion) and with variation in GATA3 expression. 24141364 2013
Childhood Acute Lymphoblastic Leukemia
0.030 GeneticVariation BEFREE The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. 23996088 2013
Childhood Acute Lymphoblastic Leukemia
0.030 GeneticVariation BEFREE The GATA3 rs3824662 A allele and AA genotype may be risk factors for the development of pediatric ALL especially B-ALL in the studied cohort of Egyptian patients. 27684731 2017
Childhood Acute Lymphoblastic Leukemia
0.030 GeneticVariation BEFREE In a genome-wide association study (GWAS) of 511 ALL cases and 6,661 non-ALL controls, we identified a susceptibility locus for Ph-like ALL (GATA3, rs3824662; P = 2.17 × 10(-14), odds ratio (OR) = 3.85 for Ph-like ALL versus non-ALL; P = 1.05 × 10(-8), OR = 3.25 for Ph-like ALL versus non-Ph-like ALL), with independent validation. 24141364 2013
Hyperdiploid B Acute Lymphoblastic Leukemia
0.020 GeneticVariation BEFREE The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. 23996088 2013
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.020 GeneticVariation BEFREE The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. 23996088 2013
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. 23996088 2013
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.020 GeneticVariation BEFREE The GATA3 rs3824662 A allele and AA genotype may be risk factors for the development of pediatric ALL especially B-ALL in the studied cohort of Egyptian patients. 27684731 2017
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE The GATA3 rs3824662 A allele and AA genotype may be risk factors for the development of pediatric ALL especially B-ALL in the studied cohort of Egyptian patients. 27684731 2017
Hyperdiploid B Acute Lymphoblastic Leukemia
0.020 GeneticVariation BEFREE These SNPs are located at CDKN2A (rs3731217) and IKZF1 (rs4132601), genes frequently lost in ALL, and at CEBPE (rs2239633), ARID5B (rs7089424), PIP4K2A (rs10764338), and GATA3 (rs3824662), genes located on chromosomes gained in high-hyperdiploid ALL. 26575185 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE The single nucleotide polymorphism rs10828317 is responsible for the N215S polymorphism in exon 7 of PIP4K2A, and rs3824662 localizes to intron 3 of the transcription factor and putative tumor suppressor gene GATA3. 23996088 2013
Encephalitis, St. Louis
CUI: C0014060
Disease: Encephalitis, St. Louis
0.010 GeneticVariation BEFREE GATA3 rs3824662 is not associated with susceptibility to SLE either in adult or in pediatric patients; however, in pSLE patients, the heterozygous AC genotype could be considered a risk factor for LN. 30301440 2018
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE GATA3 rs3824662 is not associated with susceptibility to SLE either in adult or in pediatric patients; however, in pSLE patients, the heterozygous AC genotype could be considered a risk factor for LN. 30301440 2018
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
0.010 GeneticVariation BEFREE GATA3 rs3824662 is not associated with susceptibility to SLE either in adult or in pediatric patients; however, in pSLE patients, the heterozygous AC genotype could be considered a risk factor for LN. 30301440 2018
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.800 GeneticVariation GWASCAT A genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and young adults. 25468567 2015
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
0.700 GeneticVariation GWASCAT Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. 29632299 2018
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
0.700 GeneticVariation GWASCAT Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. 23996088 2013
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
0.700 GeneticVariation GWASCAT Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex. 29296818 2017
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.800 GeneticVariation GWASDB Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse. 24141364 2013