RAB4B, RAB4B, member RAS oncogene family, 53916

N. diseases: 8; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.830 GeneticVariation BEFREE Our study aimed to determine whether rs7937 (RAB4B, EGLN2), a top genetic variant in 19q13.2 region identified in genome-wide association studies of COPD, is associated with differential DNA methylation in blood (N = 1490) and gene expression in blood (N = 721) and lungs (N = 1087). 29092026 2018
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
T 0.830 GeneticVariation GWASCAT Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. 28166215 2017
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.830 GeneticVariation BEFREE Further haplotype analysis revealed that the "CT" haplotype composed of the mutant allele (C) of rs7937, rs3733829 in the EGLN2 gene, was associated with increased COPD risk (odds ratio =1.55; 95% confidence interval, 1.05-2.31; P=0.029). 25609945 2015
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.830 GeneticVariation GWASCAT Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV(1) (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). 22080838 2012
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.830 GeneticVariation GWASDB Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV(1) (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). 22080838 2012
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.830 GeneticVariation BEFREE Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV(1) (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). 22080838 2012
dbSNP: rs2604909
rs2604909
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17726276
rs17726276
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0016529
Disease:
Forced expiratory volume function
T 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C1519383
Disease:
Smoking Behaviors
0.700 GeneticVariation GWASDB Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. 20418888 2010
dbSNP: rs771011224
rs771011224
Entrez Id: 8190;53916;100529262;100529264
Gene Symbol: MIA;RAB4B;MIA-RAB4B;RAB4B-EGLN2
MIA;RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE T34A-C84A-dNSur-His is also a potential therapeutic agent for augmenting cancer therapy. 31004782 2019
dbSNP: rs771011224
rs771011224
Entrez Id: 8190;53916;100529262;100529264
Gene Symbol: MIA;RAB4B;MIA-RAB4B;RAB4B-EGLN2
MIA;RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE T34A-C84A-dNSur-His is also a potential therapeutic agent for augmenting cancer therapy. 31004782 2019
dbSNP: rs2604894
rs2604894
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV(1) (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). 22080838 2012
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Two 19q13 variants, rs7937 and rs4105144, were associated with increased cotinine (P = 0.003 and P < 0.001, respectively) but decreased lung cancer risk (P = 0.01 for both, after adjusting for cotinine). 21862624 2011
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Two 19q13 variants, rs7937 and rs4105144, were associated with increased cotinine (P = 0.003 and P < 0.001, respectively) but decreased lung cancer risk (P = 0.01 for both, after adjusting for cotinine). 21862624 2011
dbSNP: rs7937
rs7937
Entrez Id: 53916;100529262;100529264
Gene Symbol: RAB4B;MIA-RAB4B;RAB4B-EGLN2
RAB4B;MIA-RAB4B;RAB4B-EGLN2
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Two 19q13 variants, rs7937 and rs4105144, were associated with increased cotinine (P = 0.003 and P < 0.001, respectively) but decreased lung cancer risk (P = 0.01 for both, after adjusting for cotinine). 21862624 2011