rs2779569

Homo sapiens
T>C
GABBR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0044 (1343/29962,GnomAD)
C=0037 (1077/29118,TOPMED)
C=0074 (369/5008,1000G)
C=0060 (231/3854,ALSPAC)
C=0059 (219/3708,TWINSUK)
chr9:98518102 (GRCh38.p7) (9q22.33)
AD
GWASdb2
1   publication(s)
See rs on genome
66 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.98518102T>C
GRCh37.p13 chr 9NC_000009.11:g.101280384T>C
GABBR2 RefSeqGeneNG_016426.1:g.196096A>G

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
1000GenomesAfricanSub1322T=0.997C=0.003
1000GenomesAmericanSub694T=0.890C=0.110
1000GenomesEast AsianSub1008T=0.886C=0.114
1000GenomesEuropeSub1006T=0.951C=0.049
1000GenomesGlobalStudy-wide5008T=0.926C=0.074
1000GenomesSouth AsianSub978T=0.870C=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.940C=0.060
The Genome Aggregation DatabaseAfricanSub8728T=0.988C=0.012
The Genome Aggregation DatabaseAmericanSub838T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1620T=0.894C=0.106
The Genome Aggregation DatabaseEuropeSub18474T=0.947C=0.053
The Genome Aggregation DatabaseGlobalStudy-wide29962T=0.955C=0.044
The Genome Aggregation DatabaseOtherSub302T=0.950C=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.963C=0.037
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.941C=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
rs27795690.000157alcohol consumption23743675

eQTL of rs2779569 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 rs2779569 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 )
chr9101244117101244221E067-36163
chr9101244364101244501E067-35883
chr9101244613101244850E067-35534
chr9101247599101247639E067-32745
chr9101264430101264500E067-15884
chr9101264682101264896E067-15488
chr9101301518101301681E06721134
chr9101302863101302998E06722479
chr9101266568101267319E068-13065
chr9101267321101267388E068-12996
chr9101244117101244221E069-36163
chr9101244364101244501E069-35883
chr9101264129101264423E069-15961
chr9101264430101264500E069-15884
chr9101264995101265632E069-14752
chr9101320873101321235E06940489
chr9101264020101264074E070-16310
chr9101266568101267319E070-13065
chr9101267321101267388E070-12996
chr9101300930101301348E07020546
chr9101320873101321235E07140489
chr9101321941101322119E07141557
chr9101322232101322436E07141848
chr9101248361101248411E072-31973
chr9101264129101264423E072-15961
chr9101264430101264500E072-15884
chr9101264682101264896E072-15488
chr9101265877101266026E072-14358
chr9101320873101321235E07240489
chr9101321669101321719E07241285
chr9101321941101322119E07241557
chr9101243726101243812E073-36572
chr9101244117101244221E073-36163
chr9101244364101244501E073-35883
chr9101246097101246201E073-34183
chr9101246382101246572E073-33812
chr9101246634101246818E073-33566
chr9101264430101264500E073-15884
chr9101264682101264896E073-15488
chr9101266568101267319E073-13065
chr9101283482101283709E0733098
chr9101300598101300688E07320214
chr9101300830101300916E07320446
chr9101300930101301348E07320546
chr9101313840101314100E07333456
chr9101320873101321235E07340489
chr9101240927101240977E081-39407
chr9101244364101244501E081-35883
chr9101244613101244850E081-35534
chr9101245307101245371E081-35013
chr9101245697101245762E081-34622
chr9101247599101247639E081-32745
chr9101267321101267388E081-12996
chr9101267536101267624E081-12760
chr9101267648101267707E081-12677
chr9101267838101267892E081-12492
chr9101267958101268030E081-12354
chr9101300598101300688E08120214
chr9101300830101300916E08120446
chr9101300930101301348E08120546
chr9101301518101301681E08121134
chr9101303972101304327E08123588
chr9101266568101267319E082-13065
chr9101267321101267388E082-12996
chr9101300930101301348E08220546
chr9101301518101301681E08221134