rs1045280

Homo sapiens
C>T
ARRB2 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0295 (35835/121372,ExAC)
C==0362 (10837/29886,GnomAD)
C==0436 (12719/29118,TOPMED)
T=0400 (5209/13006,GO-ESP)
C==0330 (1655/5008,1000G)
C==0306 (1178/3854,ALSPAC)
C==0316 (1172/3708,TWINSUK)
chr17:4719343 (GRCh38.p7) (17p13.2)
AD
GWASdb2
11   publication(s)
See rs on genome
31 Enhancers around
43 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.4719343C>T
GRCh37.p13 chr 17NC_000017.10:g.4622638C>T

Gene: ARRB2, arrestin beta 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ARRB2 transcript variant 4NM_001257329.1:c.N/AIntron Variant
ARRB2 transcript variant 1NM_004313.3:c.840C>TS [AGC]> S [AGT]Coding Sequence Variant
beta-arrestin-2 isoform 1NP_004304.1:p.Ser...NP_004304.1:p.Ser280=S [Ser]> S [Ser]Synonymous Variant
ARRB2 transcript variant 2NM_199004.1:c.795C>TS [AGC]> S [AGT]Coding Sequence Variant
beta-arrestin-2 isoform 2NP_945355.1:p.Ser...NP_945355.1:p.Ser265=S [Ser]> S [Ser]Synonymous Variant
ARRB2 transcript variant 3NM_001257328.1:c....NM_001257328.1:c.903C>TS [AGC]> S [AGT]Coding Sequence Variant
beta-arrestin-2 isoform 3NP_001244257.1:p....NP_001244257.1:p.Ser301=S [Ser]> S [Ser]Synonymous Variant
ARRB2 transcript variant 5NM_001257330.1:c....NM_001257330.1:c.840C>TS [AGC]> S [AGT]Coding Sequence Variant
beta-arrestin-2 isoform 5NP_001244259.1:p....NP_001244259.1:p.Ser280=S [Ser]> S [Ser]Synonymous Variant
ARRB2 transcript variant 6NM_001257331.1:c....NM_001257331.1:c.795C>TS [AGC]> S [AGT]Coding Sequence Variant
beta-arrestin-2 isoform 6NP_001244260.1:p....NP_001244260.1:p.Ser265=S [Ser]> S [Ser]Synonymous Variant
ARRB2 transcript variant 7NR_047516.1:n.103...NR_047516.1:n.1037C>TC>TNon Coding Transcript Variant
ARRB2 transcript variant X2XM_006721520.1:c....XM_006721520.1:c.264C>TS [AGC]> S [AGT]Coding Sequence Variant
beta-arrestin-2 isoform X2XP_006721583.1:p....XP_006721583.1:p.Ser88=S [Ser]> S [Ser]Synonymous Variant
ARRB2 transcript variant X1XM_011523858.2:c....XM_011523858.2:c.933C>TS [AGC]> S [AGT]Coding Sequence Variant
beta-arrestin-2 isoform X1XP_011522160.1:p....XP_011522160.1:p.Ser311=S [Ser]> S [Ser]Synonymous Variant
ARRB2 transcript variant X5XM_017024645.1:c....XM_017024645.1:c.264C>TS [AGC]> S [AGT]Coding Sequence Variant
beta-arrestin-2 isoform X3XP_016880134.1:p....XP_016880134.1:p.Ser88=S [Ser]> S [Ser]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.595T=0.405
1000GenomesAmericanSub694C=0.280T=0.720
1000GenomesEast AsianSub1008C=0.175T=0.825
1000GenomesEuropeSub1006C=0.312T=0.688
1000GenomesGlobalStudy-wide5008C=0.330T=0.670
1000GenomesSouth AsianSub978C=0.190T=0.810
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.306T=0.694
The Exome Aggregation ConsortiumAmericanSub21970C=0.384T=0.615
The Exome Aggregation ConsortiumAsianSub25152C=0.200T=0.799
The Exome Aggregation ConsortiumEuropeSub73342C=0.301T=0.698
The Exome Aggregation ConsortiumGlobalStudy-wide121372C=0.295T=0.704
The Exome Aggregation ConsortiumOtherSub908C=0.280T=0.720
The Genome Aggregation DatabaseAfricanSub8682C=0.561T=0.439
The Genome Aggregation DatabaseAmericanSub834C=0.270T=0.730
The Genome Aggregation DatabaseEast AsianSub1618C=0.204T=0.796
The Genome Aggregation DatabaseEuropeSub18450C=0.288T=0.711
The Genome Aggregation DatabaseGlobalStudy-wide29886C=0.362T=0.637
The Genome Aggregation DatabaseOtherSub302C=0.310T=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.436T=0.563
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.316T=0.684
PMID Title Author Journal
17233643Possible association of beta-arrestin 2 gene with methamphetamine use disorder, but not schizophrenia.Ikeda MGenes Brain Behav
20514076beta-Arrestin2 influences the response to methadone in opioid-dependent patients.Oneda BPharmacogenomics J
25819021A review of pharmacogenetic studies of substance-related disorders.Jones JDDrug Alcohol Depend
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21728034Methamphetamine-associated psychosis.Grant KMJ Neuroimmune Pharmacol
21197301Recent advances in the use of opioids for cancer pain.Droney JJ Pain Res
24635845The genetic variation of ARRB2 is associated with late-onset Alzheimer's disease in Han Chinese.Jiang TCurr Alzheimer Res
26694375Alterations of Dopamine D2 Receptors and Related Receptor-Interacting Proteins in Schizophrenia: The Pivotal Position of Dopamine Supersensitivity Psychosis in Treatment-Resistant Schizophrenia.Oda YInt J Mol Sci
17579607Beta-arrestins 1 and 2 are associated with nicotine dependence in European American smokers.Sun DMol Psychiatry
19049562The coding-synonymous polymorphism rs1045280 (Ser280Ser) in beta-arrestin 2 (ARRB2) gene is associated with tardive dyskinesia in Chinese patients with schizophrenia.Liou YJEur J Neurol
22472784Association study of the beta-arrestin 2 gene (ARRB2) with opioid and cocaine dependence in a European-American population.Ambrose-Lanci LMPsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs10452800.000656alcohol dependence20201924

eQTL of rs1045280 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:4622638ALOX15ENSG00000161905.8C>T3.7844e-977049Cerebellum
Chr17:4622638ALOX15ENSG00000161905.8C>T9.8439e-777049Hypothalamus
Chr17:4622638ALOX15ENSG00000161905.8C>T7.5914e-1077049Cortex
Chr17:4622638ALOX15ENSG00000161905.8C>T1.3738e-877049Anterior_cingulate_cortex

meQTL of rs1045280 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 )
chr1746059934606164E067-16474
chr1746082854608402E068-14236
chr1746359094636292E06813271
chr1746363644636551E06813726
chr1745944044594444E069-28194
chr1745945494594602E069-28036
chr1746057114605824E069-16814
chr1746058384605906E069-16732
chr1746059934606164E069-16474
chr1746048844604940E070-17698
chr1746049744605024E070-17614
chr1746050374605148E070-17490
chr1746052594605327E070-17311
chr1746057114605824E070-16814
chr1746058384605906E070-16732
chr1746059934606164E070-16474
chr1746050374605148E071-17490
chr1746057114605824E071-16814
chr1746058384605906E071-16732
chr1746059934606164E071-16474
chr1746190994619198E071-3440
chr1746439234643973E07121285
chr1746059934606164E072-16474
chr1746082854608402E072-14236
chr1746082854608402E073-14236
chr1746356944635744E07413056
chr1746359094636292E07413271
chr1746059934606164E081-16474
chr1746082854608402E081-14236
chr1746057114605824E082-16814
chr1746058384605906E082-16732










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1746067034607788E067-14850
chr1746078194607923E067-14715
chr1746336904635395E06711052
chr1746414924643765E06718854
chr1746067034607788E068-14850
chr1746078194607923E068-14715
chr1746336904635395E06811052
chr1746414924643765E06818854
chr1746067034607788E069-14850
chr1746078194607923E069-14715
chr1746080624608164E069-14474
chr1746336904635395E06911052
chr1746414924643765E06918854
chr1746067034607788E070-14850
chr1746078194607923E070-14715
chr1746080624608164E070-14474
chr1746336904635395E07011052
chr1746067034607788E071-14850
chr1746078194607923E071-14715
chr1746080624608164E071-14474
chr1746336904635395E07111052
chr1746414924643765E07118854
chr1746067034607788E072-14850
chr1746078194607923E072-14715
chr1746080624608164E072-14474
chr1746336904635395E07211052
chr1746414924643765E07218854
chr1746067034607788E073-14850
chr1746078194607923E073-14715
chr1746080624608164E073-14474
chr1746336904635395E07311052
chr1746414924643765E07318854
chr1746067034607788E074-14850
chr1746078194607923E074-14715
chr1746336904635395E07411052
chr1746414924643765E07418854
chr1746483894649039E07425751
chr1746067034607788E081-14850
chr1746336904635395E08111052
chr1746067034607788E082-14850
chr1746078194607923E082-14715
chr1746080624608164E082-14474
chr1746336904635395E08211052