rs2290400, GSDMB

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Allergic Reaction
CUI: C1527304
Disease: Allergic Reaction
0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569 2013
Asthma
CUI: C0004096
Disease: Asthma
0.820 GeneticVariation GWASDB A large-scale, consortium-based genomewide association study of asthma. 20860503 2010
Diabetes
CUI: C0011847
Disease: Diabetes
0.010 GeneticVariation BEFREE Age-specific effects on diabetes susceptibility were suggested for rs2290400; heterozygosity of the risk alleles was associated with relatively early onset of diabetes, and the allele was linked to the phenotype exclusively in the subgroup of age at onset ≤ 5.0 years. 27352912 2016
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.010 GeneticVariation BEFREE Age-specific effects on diabetes susceptibility were suggested for rs2290400; heterozygosity of the risk alleles was associated with relatively early onset of diabetes, and the allele was linked to the phenotype exclusively in the subgroup of age at onset ≤ 5.0 years. 27352912 2016
Asthma
CUI: C0004096
Disease: Asthma
0.820 GeneticVariation GWASCAT Combining genomewide association study and lung eQTL analysis provides evidence for novel genes associated with asthma. 27439200 2016
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.700 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
Childhood asthma
CUI: C0264408
Disease: Childhood asthma
0.700 GeneticVariation GWASDB Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. 17611496 2007
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
0.810 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
0.810 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
Precursor Cell Lymphoblastic Leukemia Lymphoma
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
0.700 GeneticVariation GWASCAT GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21. 29348612 2018
Asthma
CUI: C0004096
Disease: Asthma
0.820 GeneticVariation BEFREE Haplotypes at 17q12-q21 encompassing rs2290400 are known to determine the susceptibility of early-onset asthma by affecting the expression of flanking genes. 27352912 2016
Asthma
CUI: C0004096
Disease: Asthma
0.820 GeneticVariation GWASDB Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. 21804549 2011
Asthma
CUI: C0004096
Disease: Asthma
0.820 GeneticVariation BEFREE Sixteen SNPs were significantly associated with asthma after multiple testing correction (P ≤ .01), of which 5 (rs2290400, rs8079416, rs3894194, rs7212938, and rs3859192) were strongly associated (FDR P ≤ .0002), and one was novel (IKZF3-rs1453559). 22626592 2012
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
0.810 GeneticVariation BEFREE The results indicate that rs2290400 in GSDMB and polymorphisms in INS and CTLA4 are associated with the risk of Type 1 diabetes in Japanese children. 27352912 2016