Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17486278
rs17486278
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0035227
Disease:
Respiratory Function Tests
0.800 GeneticVariation GWASDB Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. 22837378 2012
dbSNP: rs17486278
rs17486278
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0035227
Disease:
Respiratory Function Tests
0.800 GeneticVariation GWASCAT Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. 22837378 2012
dbSNP: rs16969968
rs16969968
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.780 GeneticVariation BEFREE In addition, the A alleles in CHRNA3 rs1051730 and CHRNA5 rs16969968 were associated with the risk for LC (OR = 1.66, P = 0.07 and OR = 1.57, P = 0.1, respectively) and for COPD (OR = 2.04, P = 0.01 and OR = 1.91, P = 0.02, respectively). 29993116 2018
dbSNP: rs16969968
rs16969968
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.780 GeneticVariation BEFREE Our study showed the association of rs13180, rs16969968 and rs1051730 with COPD and lung function in Tatar population from Russia. 28474623 2016
dbSNP: rs16969968
rs16969968
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.780 GeneticVariation BEFREE The rs8040868 variant is in linkage disequilibrium with rs16969968 previously associated with COPD and altered expression of the CHRNA5 gene. 27835950 2016
dbSNP: rs16969968
rs16969968
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.780 GeneticVariation BEFREE The FPRP test results were as follows: 1) when the prior probability was 0.001 and the OR was 1.5, ADAM33 rs612709, CHRNA3/5 rs1051730, CHRNA3/5 rs8034191, CHRNA3/5 rs16969968, and TGFB1 rs1800470 were truly associated with COPD risk (FPRP < 0.2); 2) when the prior probability was 0.000001 and the OR was 1.5, all the variants except TGFB1 rs1800470 remained noteworthy; and 3) when the probability was 0.000001 and the OR was 1.2, ADAM33 rs612709 and CHRNA3/5 rs1051730 remained true positives. 27323020 2016
dbSNP: rs16969968
rs16969968
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.780 GeneticVariation BEFREE Our top result was rs16969968 (P = 1.7 × 10(-14)) in CHRNA5, a locus previously associated with COPD susceptibility and nicotine dependence. 26771213 2016
dbSNP: rs16969968
rs16969968
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
A 0.780 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
dbSNP: rs16969968
rs16969968
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.780 GeneticVariation BEFREE Significant associations between the 4 SNPs and COPD were identified under allele (rs1051730: OR = 1.14, 95%CI = 1.10-1.18; rs8034191: OR = 1.29, 95%CI = 1.18-1.41; rs6495309: OR = 1.26, 95%CI = 1.09-1.45; rs16969968: OR = 1.27, 95%CI = 1.17-1.39) and genotype models. 25051068 2014
dbSNP: rs16969968
rs16969968
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.780 GeneticVariation BEFREE Four SNPs (rs1964678, rs12593229, rs965604 and rs13180) in IREB2 were associated with forced expiratory volume in 1 s (FEV(1))% predicted and three SNPs (rs16969968, rs8034191 and rs1051730) in CHRNA3/5 were both associated with FEV(1)% predicted and FEV(1)/FVC in COPD cases (P range 0.007-0.050). 22914670 2012
dbSNP: rs16969968
rs16969968
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.780 GeneticVariation BEFREE In models adjusting for cigarettes-per-day, we confirm the association between rs16969968 and lung cancer (p<10(-20)) and observe a nominally significant association with COPD (p = 0.01); the other loci are not significantly associated with either lung cancer or COPD after adjusting for rs16969968. 20700436 2010
dbSNP: rs55781567
rs55781567
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
G 0.710 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
dbSNP: rs55781567
rs55781567
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.710 GeneticVariation BEFREE Analysis of differential allelic expression (DAE) of three single nucleotide polymorphisms (rs503464, rs55853698 and rs55781567) tagging the expression haplotypes of the CHRNA5 promoter indicated statistically significant DAE at rs55853698 and rs55781567, in both normal lung and lung adenocarcinoma. 23430818 2013
dbSNP: rs55781567
rs55781567
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
G 0.700 GeneticVariation GWASCAT Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. 31326317 2019
dbSNP: rs55781567
rs55781567
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0202239
Disease:
Uric acid measurement (procedure)
C 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs8192482
rs8192482
Entrez Id: 1136;1138
Gene Symbol: CHRNA3;CHRNA5
CHRNA3;CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
T 0.700 GeneticVariation GWASCAT Common and Rare Variants Genetic Association Analysis of Cigarettes per Day Among Ever-Smokers in Chronic Obstructive Pulmonary Disease Cases and Controls. 29767774 2019
dbSNP: rs17486278
rs17486278
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
C 0.700 GeneticVariation GWASCAT Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis. 28166215 2017
dbSNP: rs190065944
rs190065944
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0008074
Disease:
Child Development Disorders, Pervasive
A 0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
dbSNP: rs190065944
rs190065944
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0036341
Disease:
Schizophrenia
A 0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
dbSNP: rs55781567
rs55781567
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0684249
Disease:
Carcinoma of lung
G 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
dbSNP: rs55853698
rs55853698
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0149925
Disease:
Small cell carcinoma of lung
G 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
dbSNP: rs55781567
rs55781567
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0684249
Disease:
Carcinoma of lung
0.700 GeneticVariation GWASCAT Genome-wide association study confirms lung cancer susceptibility loci on chromosomes 5p15 and 15q25 in an African-American population. 27393504 2016
dbSNP: rs11633958
rs11633958
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C3548479
Disease:
response to bronchodilator
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: rs11633958
rs11633958
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
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: rs11633958
rs11633958
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
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