rs8067378, None

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASDB Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants. 22936693 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012
cervical cancer
CUI: C4048328
Disease: cervical cancer
0.720 GeneticVariation BEFREE Analysis of rs8067378 Polymorphism in the Risk of Uterine Cervical Cancer from a Polish Population and its Impact on Gasdermin B Expression. 28120299 2017
cervical cancer
CUI: C4048328
Disease: cervical cancer
0.720 GeneticVariation BEFREE In this study, associations between invasive cervical cancer and four cervical cancer susceptibility loci (rs13117307 at 4q12, rs8067378 at 17q12, and rs4282438 and rs9277952 at 6p21.32) in the Han Chinese population were investigated in a Japanese population. 27193219 2016
Asthma
CUI: C0004096
Disease: Asthma
0.720 GeneticVariation BEFREE For ORMDL3-GSDMB region, rs8067378 (G allele protective against asthma) was correlated with decreased expression of GSDMB in BEC and BAL (P = 1.3 × 10(-4) and 0.04) but not ORMDL3. rs992969 in the promoter region of IL33 (A allele associated with higher eosinophil counts and risk for asthma) was correlated with increased expression of IL33 in BEC (P = 1.3 × 10(-6) ) but not in BAL. 26119467 2015
cervical cancer
CUI: C4048328
Disease: cervical cancer
0.720 GeneticVariation GWASDB We identified strong evidence of associations between cervical cancer and two new loci: 4q12 (rs13117307, Pcombined, stringently matched=9.69×10(-9), per-allele odds ratio (OR)stringently matched=1.26) and 17q12 (rs8067378, Pcombined, stringently matched=2.00×10(-8), per-allele ORstringently matched=1.18). 23817570 2013
Asthma
CUI: C0004096
Disease: Asthma
0.720 GeneticVariation BEFREE For two of these six loci (rs2305480 and rs8067378), there was evidence of association with asthma, and there was a weak association of asthma with rs8069176. 22370936 2012
Asthma
CUI: C0004096
Disease: Asthma
0.720 GeneticVariation GWASDB Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. 21804549 2011
Asthma
CUI: C0004096
Disease: Asthma
0.720 GeneticVariation GWASDB A large-scale, consortium-based genomewide association study of asthma. 20860503 2010
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.710 GeneticVariation BEFREE In this study, associations between invasive cervical cancer and four cervical cancer susceptibility loci (rs13117307 at 4q12, rs8067378 at 17q12, and rs4282438 and rs9277952 at 6p21.32) in the Han Chinese population were investigated in a Japanese population. 27193219 2016
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.710 GeneticVariation GWASCAT We identified strong evidence of associations between cervical cancer and two new loci: 4q12 (rs13117307, Pcombined, stringently matched=9.69×10(-9), per-allele odds ratio (OR)stringently matched=1.26) and 17q12 (rs8067378, Pcombined, stringently matched=2.00×10(-8), per-allele ORstringently matched=1.18). 23817570 2013
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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.700 GeneticVariation GWASDB Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 20228799 2010
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
Cervical Squamous Cell Carcinoma
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
0.010 GeneticVariation BEFREE The rs13117307 C/T, rs8067378 A/G, rs4282438 G/T, and rs9277952 A/G SNPs were genotyped in 507 women with cervical squamous cell carcinoma (CSCC) and 432 age/sex matched healthy controls by using TaqMan PCR Assay. 30333560 2018
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.010 GeneticVariation BEFREE The rs8067378 SNP variants may increase the expression of GSDMB and the risk of the development and progression of cervical SCC. 28120299 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE We also found a significant association of the rs8067378 SNP with tumor stages III, IV, and grade of differentiation G3, and with parity, oral contraceptive use, smoking, and women of postmenopausal age. 28120299 2017
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
0.010 GeneticVariation BEFREE In this study, associations between invasive cervical cancer and four cervical cancer susceptibility loci (rs13117307 at 4q12, rs8067378 at 17q12, and rs4282438 and rs9277952 at 6p21.32) in the Han Chinese population were investigated in a Japanese population. 27193219 2016
Infiltrating Cervical Carcinoma
CUI: C1334177
Disease: Infiltrating Cervical Carcinoma
0.010 GeneticVariation BEFREE Under a recessive model, the minor allele G of rs8067378 contributed to the risk of invasive cervical cancer (odds ratio=2.92, 95% confidence interval=1.40-6.36; P=0.0021). 27193219 2016