rs1042718

Homo sapiens
C>A / C>T
ADRB2 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0232 (28234/121374,ExAC)
A=0214 (6427/29918,GnomAD)
A=0270 (7871/29118,TOPMED)
C==0221 (2881/13006,GO-ESP)
A=0298 (1491/5008,1000G)
A=0159 (613/3854,ALSPAC)
A=0161 (598/3708,TWINSUK)
chr5:148827354 (GRCh38.p7) (5q32)
AD
GWASdb2
20   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.148827354C>A
GRCh38.p7 chr 5NC_000005.10:g.148827354C>T
GRCh37.p13 chr 5NC_000005.9:g.148206917C>A
GRCh37.p13 chr 5NC_000005.9:g.148206917C>T
ADRB2 RefSeqGeneNG_016421.1:g.5762C>A
ADRB2 RefSeqGeneNG_016421.1:g.5762C>T

Gene: ADRB2, adrenoceptor beta 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ADRB2 transcriptNM_000024.5:c.523C>AR [CGG]> R [AGG]Coding Sequence Variant
beta-2 adrenergic receptorNP_000015.1:p.Arg...NP_000015.1:p.Arg175=R [Arg]> R [Arg]Synonymous Variant
ADRB2 transcriptNM_000024.5:c.523C>TR [CGG]> W [TGG]Coding Sequence Variant
beta-2 adrenergic receptorNP_000015.1:p.Arg...NP_000015.1:p.Arg175TrpR [Arg]> W [Trp]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.662A=0.338
1000GenomesAmericanSub694C=0.710A=0.290
1000GenomesEast AsianSub1008C=0.631A=0.369
1000GenomesEuropeSub1006C=0.831A=0.169
1000GenomesGlobalStudy-wide5008C=0.702A=0.298
1000GenomesSouth AsianSub978C=0.690A=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.841A=0.159
The Exome Aggregation ConsortiumAmericanSub21978C=0.638A=0.361
The Exome Aggregation ConsortiumAsianSub25138C=0.688A=0.311
The Exome Aggregation ConsortiumEuropeSub73350C=0.832A=0.167
The Exome Aggregation ConsortiumGlobalStudy-wide121374C=0.767A=0.232
The Exome Aggregation ConsortiumOtherSub908C=0.790A=0.210
The Genome Aggregation DatabaseAfricanSub8700C=0.681A=0.319
The Genome Aggregation DatabaseAmericanSub832C=0.660A=0.340
The Genome Aggregation DatabaseEast AsianSub1610C=0.693A=0.307
The Genome Aggregation DatabaseEuropeSub18474C=0.847A=0.152
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.785A=0.214
The Genome Aggregation DatabaseOtherSub302C=0.800A=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.729A=0.270
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.839A=0.161
PMID Title Author Journal
22072270Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.Wang KSJ Neural Transm (Vienna)
23020224Common genetic variants of the beta2-adrenergic receptor affect its translational efficiency and are associated with human longevity.Zhao LAging Cell
27720787Associations Between Neurotransmitter Genes and Fatigue and Energy Levels in Women After Breast Cancer Surgery.Eshragh JJ Pain Symptom Manage
24012958Single nucleotide polymorphisms of ADRB2 gene and their association with susceptibility for Plasmodium falciparum malaria and asthma in an Indian population.Saadi AVInfect Genet Evol
19779622No consistent effect of ADRB2 haplotypes on obesity, hypertension and quantitative traits of body fatness and blood pressure among 6,514 adult Danes.Gjesing APPLoS One
20525719Association of COPD candidate genes with computed tomography emphysema and airway phenotypes in severe COPD.Kim WJEur Respir J
19284637Polymorphisms in the ADRB2 gene and Graves disease: a case-control study and a meta-analysis of available evidence.Chu XBMC Med Genet
14574644Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Senderek JAm J Hum Genet
20537997Genetic covariance between gamma-glutamyl transpeptidase and fatty liver risk factors: role of beta2-adrenergic receptor genetic variation in twins.Loomba RGastroenterology
18615004beta-adrenergic receptor gene polymorphisms and beta-blocker treatment outcomes in hypertension.Pacanowski MAClin Pharmacol Ther
19111454Genetic association analysis of COPD candidate genes with bronchodilator responsiveness.Kim WJRespir Med
15500681Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.Liljedahl UBMC Biotechnol
25050782Effects of beta2-adrenergic receptor gene polymorphisms on ritodrine therapy in pregnant women with preterm labor: prospective follow-up study.Park JYInt J Mol Sci
24658007Variation in genes that regulate blood pressure are associated with glomerular filtration rate in Chinese.Montasser MEPLoS One
20049212Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS).Castro-Giner FEnviron Health Perspect
21143246Neurotransmitter and neuromodulator genes associated with a history of depressive symptoms in individuals with alcohol dependence.Kertes DAAlcohol Clin Exp Res
18640383Genotypes and haplotypes of beta2-adrenergic receptor and parameters of the metabolic syndrome in Korean adolescents.Park HSMetabolism
22383665ADRB2 polymorphisms and budesonide/formoterol responses in COPD.Bleecker ERChest
18709160Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.Melen EEnviron Health Perspect
26602751Association of beta-Adrenergic Receptor Gene Polymorphisms With Acute Coronary Syndrome and Cardiovascular Risk Factors in an Arab Population.El-Menyar AAngiology

P-Value

SNP ID p-value Traits Study
rs10427185.71E-05alcohol withdrawal symptoms22072270

eQTL of rs1042718 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs1042718 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr54015098940151161E07127640
chr54011392640114324E081-9025
chr54011438740114576E081-8773