rs2808560

Homo sapiens
C>T
GABBR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0053 (1608/29978,GnomAD)
T=0041 (1213/29118,TOPMED)
T=0072 (363/5008,1000G)
T=0067 (259/3854,ALSPAC)
T=0067 (247/3708,TWINSUK)
chr9:98499936 (GRCh38.p7) (9q22.33)
AD
GWASdb2
1   publication(s)
See rs on genome
59 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.98499936C>T
GRCh37.p13 chr 9NC_000009.11:g.101262218C>T
GABBR2 RefSeqGeneNG_016426.1:g.214262G>A

Gene: GABBR2, gamma-aminobutyric acid type B receptor subunit 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GABBR2 transcriptNM_005458.7:c.N/AIntron Variant
GABBR2 transcript variant X2XM_005252316.4:c.N/AIntron Variant
GABBR2 transcript variant X1XM_017015331.1:c.N/AIntron Variant
GABBR2 transcript variant X3XM_017015332.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.997T=0.003
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.882T=0.118
1000GenomesEuropeSub1006C=0.947T=0.053
1000GenomesGlobalStudy-wide5008C=0.928T=0.072
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.933T=0.067
The Genome Aggregation DatabaseAfricanSub8726C=0.989T=0.011
The Genome Aggregation DatabaseAmericanSub838C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1620C=0.883T=0.117
The Genome Aggregation DatabaseEuropeSub18492C=0.933T=0.066
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.946T=0.053
The Genome Aggregation DatabaseOtherSub302C=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.958T=0.041
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.933T=0.067
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs28085600.000152alcohol consumption23743675

eQTL of rs2808560 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 rs2808560 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 )
chr9101218103101218582E067-43636
chr9101244117101244221E067-17997
chr9101244364101244501E067-17717
chr9101244613101244850E067-17368
chr9101247599101247639E067-14579
chr9101264430101264500E0672212
chr9101264682101264896E0672464
chr9101301518101301681E06739300
chr9101302863101302998E06740645
chr9101266568101267319E0684350
chr9101267321101267388E0685103
chr9101244117101244221E069-17997
chr9101244364101244501E069-17717
chr9101264129101264423E0691911
chr9101264430101264500E0692212
chr9101264995101265632E0692777
chr9101264020101264074E0701802
chr9101266568101267319E0704350
chr9101267321101267388E0705103
chr9101300930101301348E07038712
chr9101248361101248411E072-13807
chr9101264129101264423E0721911
chr9101264430101264500E0722212
chr9101264682101264896E0722464
chr9101265877101266026E0723659
chr9101243726101243812E073-18406
chr9101244117101244221E073-17997
chr9101244364101244501E073-17717
chr9101246097101246201E073-16017
chr9101246382101246572E073-15646
chr9101246634101246818E073-15400
chr9101264430101264500E0732212
chr9101264682101264896E0732464
chr9101266568101267319E0734350
chr9101283482101283709E07321264
chr9101300598101300688E07338380
chr9101300830101300916E07338612
chr9101300930101301348E07338712
chr9101218103101218582E081-43636
chr9101240927101240977E081-21241
chr9101244364101244501E081-17717
chr9101244613101244850E081-17368
chr9101245307101245371E081-16847
chr9101245697101245762E081-16456
chr9101247599101247639E081-14579
chr9101267321101267388E0815103
chr9101267536101267624E0815318
chr9101267648101267707E0815430
chr9101267838101267892E0815620
chr9101267958101268030E0815740
chr9101300598101300688E08138380
chr9101300830101300916E08138612
chr9101300930101301348E08138712
chr9101301518101301681E08139300
chr9101303972101304327E08141754
chr9101266568101267319E0824350
chr9101267321101267388E0825103
chr9101300930101301348E08238712
chr9101301518101301681E08239300