rs2779576

Homo sapiens
A>T
GABBR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0044 (1334/29890,GnomAD)
T=0036 (1072/29118,TOPMED)
T=0072 (361/5008,1000G)
T=0060 (230/3854,ALSPAC)
T=0059 (220/3708,TWINSUK)
chr9:98522270 (GRCh38.p7) (9q22.33)
AD
GWASdb2
1   publication(s)
See rs on genome
76 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.98522270A>T
GRCh37.p13 chr 9NC_000009.11:g.101284552A>T
GABBR2 RefSeqGeneNG_016426.1:g.191928T>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
1000GenomesAfricanSub1322A=0.997T=0.003
1000GenomesAmericanSub694A=0.890T=0.110
1000GenomesEast AsianSub1008A=0.886T=0.114
1000GenomesEuropeSub1006A=0.951T=0.049
1000GenomesGlobalStudy-wide5008A=0.928T=0.072
1000GenomesSouth AsianSub978A=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.940T=0.060
The Genome Aggregation DatabaseAfricanSub8726A=0.989T=0.011
The Genome Aggregation DatabaseAmericanSub836A=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1618A=0.894T=0.106
The Genome Aggregation DatabaseEuropeSub18408A=0.947T=0.053
The Genome Aggregation DatabaseGlobalStudy-wide29890A=0.955T=0.044
The Genome Aggregation DatabaseOtherSub302A=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.963T=0.036
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.941T=0.059
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
rs27795760.000157alcohol consumption23743675

eQTL of rs2779576 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 rs2779576 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 )
chr9101244117101244221E067-40331
chr9101244364101244501E067-40051
chr9101244613101244850E067-39702
chr9101247599101247639E067-36913
chr9101264430101264500E067-20052
chr9101264682101264896E067-19656
chr9101301518101301681E06716966
chr9101302863101302998E06718311
chr9101333369101333432E06748817
chr9101333566101333680E06749014
chr9101334194101334244E06749642
chr9101266568101267319E068-17233
chr9101267321101267388E068-17164
chr9101244117101244221E069-40331
chr9101244364101244501E069-40051
chr9101264129101264423E069-20129
chr9101264430101264500E069-20052
chr9101264995101265632E069-18920
chr9101320873101321235E06936321
chr9101264020101264074E070-20478
chr9101266568101267319E070-17233
chr9101267321101267388E070-17164
chr9101300930101301348E07016378
chr9101320873101321235E07136321
chr9101321941101322119E07137389
chr9101322232101322436E07137680
chr9101248361101248411E072-36141
chr9101264129101264423E072-20129
chr9101264430101264500E072-20052
chr9101264682101264896E072-19656
chr9101265877101266026E072-18526
chr9101320873101321235E07236321
chr9101321669101321719E07237117
chr9101321941101322119E07237389
chr9101243726101243812E073-40740
chr9101244117101244221E073-40331
chr9101244364101244501E073-40051
chr9101246097101246201E073-38351
chr9101246382101246572E073-37980
chr9101246634101246818E073-37734
chr9101264430101264500E073-20052
chr9101264682101264896E073-19656
chr9101266568101267319E073-17233
chr9101283482101283709E073-843
chr9101300598101300688E07316046
chr9101300830101300916E07316278
chr9101300930101301348E07316378
chr9101313840101314100E07329288
chr9101320873101321235E07336321
chr9101332610101332810E07348058
chr9101332857101332905E07348305
chr9101332967101333335E07348415
chr9101333369101333432E07348817
chr9101333566101333680E07349014
chr9101334194101334244E07349642
chr9101334373101334508E07349821
chr9101240927101240977E081-43575
chr9101244364101244501E081-40051
chr9101244613101244850E081-39702
chr9101245307101245371E081-39181
chr9101245697101245762E081-38790
chr9101247599101247639E081-36913
chr9101267321101267388E081-17164
chr9101267536101267624E081-16928
chr9101267648101267707E081-16845
chr9101267838101267892E081-16660
chr9101267958101268030E081-16522
chr9101300598101300688E08116046
chr9101300830101300916E08116278
chr9101300930101301348E08116378
chr9101301518101301681E08116966
chr9101303972101304327E08119420
chr9101266568101267319E082-17233
chr9101267321101267388E082-17164
chr9101300930101301348E08216378
chr9101301518101301681E08216966