rs1042717

Organism: Homo sapiens

Alleles: G>A / G>C

Gene : Feature

ADRB2 : Synonymous Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0234 (7036/29970,GnomAD)
A=0282 (8222/29118,TOPMED)
G==0241 (3144/13006,GO-ESP)
A=0315 (1576/5008,1000G)
A=0185 (713/3854,ALSPAC)
A=0187 (693/3708,TWINSUK)

Position: chr5:148827083 (GRCh38.p7) (5q32)

Phenotype: AD

Dataset:

GWASdb2

Publications: 13 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.148827083G>A
GRCh38.p7 chr 5	NC_000005.10:g.148827083G>C
GRCh37.p13 chr 5	NC_000005.9:g.148206646G>A
GRCh37.p13 chr 5	NC_000005.9:g.148206646G>C
ADRB2 RefSeqGene	NG_016421.1:g.5491G>A
ADRB2 RefSeqGene	NG_016421.1:g.5491G>C

Gene: ADRB2, adrenoceptor beta 2(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADRB2 transcript	NM_000024.5:c.252G>A	L [CTG]> L [CTA]	Coding Sequence Variant
beta-2 adrenergic receptor	NP_000015.1:p.Leu84=	L [Leu]> L [Leu]	Synonymous Variant
ADRB2 transcript	NM_000024.5:c.252G>C	L [CTG]> L [CTC]	Coding Sequence Variant
beta-2 adrenergic receptor	NP_000015.1:p.Leu84=	L [Leu]> L [Leu]	Synonymous Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.660	A=0.340
1000Genomes	American	Sub	694	G=0.700	A=0.300
1000Genomes	East Asian	Sub	1008	G=0.636	A=0.364
1000Genomes	Europe	Sub	1006	G=0.801	A=0.199
1000Genomes	Global	Study-wide	5008	G=0.685	A=0.315
1000Genomes	South Asian	Sub	978	G=0.640	A=0.360
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.815	A=0.185
The Genome Aggregation Database	African	Sub	8720	G=0.676	A=0.324
The Genome Aggregation Database	American	Sub	836	G=0.650	A=0.350
The Genome Aggregation Database	East Asian	Sub	1620	G=0.693	A=0.307
The Genome Aggregation Database	Europe	Sub	18492	G=0.818	A=0.181
The Genome Aggregation Database	Global	Study-wide	29970	G=0.765	A=0.234
The Genome Aggregation Database	Other	Sub	302	G=0.780	A=0.220
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.717	A=0.282
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.813	A=0.187

PMID	Title	Author	Journal
22072270	Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.	Wang KS	J Neural Transm (Vienna)
24012958	Single nucleotide polymorphisms of ADRB2 gene and their association with susceptibility for Plasmodium falciparum malaria and asthma in an Indian population.	Saadi AV	Infect Genet Evol
19284637	Polymorphisms in the ADRB2 gene and Graves disease: a case-control study and a meta-analysis of available evidence.	Chu X	BMC Med Genet
20525719	Association of COPD candidate genes with computed tomography emphysema and airway phenotypes in severe COPD.	Kim WJ	Eur Respir J
20537997	Genetic covariance between gamma-glutamyl transpeptidase and fatty liver risk factors: role of beta2-adrenergic receptor genetic variation in twins.	Loomba R	Gastroenterology
19111454	Genetic association analysis of COPD candidate genes with bronchodilator responsiveness.	Kim WJ	Respir Med
25050782	Effects of beta2-adrenergic receptor gene polymorphisms on ritodrine therapy in pregnant women with preterm labor: prospective follow-up study.	Park JY	Int J Mol Sci
19850944	beta2-Adrenergic receptor gene polymorphism is associated with mortality in septic shock.	Nakada TA	Am J Respir Crit Care Med
18640383	Genotypes and haplotypes of beta2-adrenergic receptor and parameters of the metabolic syndrome in Korean adolescents.	Park HS	Metabolism
16741943	Three major haplotypes of the beta2 adrenergic receptor define psychological profile, blood pressure, and the risk for development of a common musculoskeletal pain disorder.	Diatchenko L	Am J Med Genet B Neuropsychiatr Genet
27247849	Genetic variation and cognitive dysfunction in opioid-treated patients with cancer.	Kurita GP	Brain Behav
18709160	Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.	Melen E	Environ Health Perspect
26503814	A genome-wide analysis of the response to inhaled beta2-agonists in chronic obstructive pulmonary disease.	Hardin M	Pharmacogenomics J

P-Value

SNP ID	p-value	Traits	Study
rs1042717	5.59E-05	alcohol withdrawal symptoms	22072270

eQTL of rs1042717 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 rs1042717 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.