rs2779581

Homo sapiens
T>C
GABBR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0044 (1339/29972,GnomAD)
C=0037 (1077/29118,TOPMED)
C=0075 (376/5008,1000G)
C=0060 (232/3854,ALSPAC)
C=0059 (220/3708,TWINSUK)
chr9:98524703 (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.98524703T>C
GRCh37.p13 chr 9NC_000009.11:g.101286985T>C
GABBR2 RefSeqGeneNG_016426.1:g.189495A>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=0.885C=0.115
1000GenomesEuropeSub1006T=0.951C=0.049
1000GenomesGlobalStudy-wide5008T=0.925C=0.075
1000GenomesSouth AsianSub978T=0.860C=0.140
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 DatabaseEuropeSub18484T=0.947C=0.052
The Genome Aggregation DatabaseGlobalStudy-wide29972T=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
rs27795810.000181alcohol consumption23743675

eQTL of rs2779581 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 rs2779581 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 )
chr9101244117101244221E067-42764
chr9101244364101244501E067-42484
chr9101244613101244850E067-42135
chr9101247599101247639E067-39346
chr9101264430101264500E067-22485
chr9101264682101264896E067-22089
chr9101301518101301681E06714533
chr9101302863101302998E06715878
chr9101333369101333432E06746384
chr9101333566101333680E06746581
chr9101334194101334244E06747209
chr9101266568101267319E068-19666
chr9101267321101267388E068-19597
chr9101244117101244221E069-42764
chr9101244364101244501E069-42484
chr9101264129101264423E069-22562
chr9101264430101264500E069-22485
chr9101264995101265632E069-21353
chr9101320873101321235E06933888
chr9101264020101264074E070-22911
chr9101266568101267319E070-19666
chr9101267321101267388E070-19597
chr9101300930101301348E07013945
chr9101320873101321235E07133888
chr9101321941101322119E07134956
chr9101322232101322436E07135247
chr9101248361101248411E072-38574
chr9101264129101264423E072-22562
chr9101264430101264500E072-22485
chr9101264682101264896E072-22089
chr9101265877101266026E072-20959
chr9101320873101321235E07233888
chr9101321669101321719E07234684
chr9101321941101322119E07234956
chr9101243726101243812E073-43173
chr9101244117101244221E073-42764
chr9101244364101244501E073-42484
chr9101246097101246201E073-40784
chr9101246382101246572E073-40413
chr9101246634101246818E073-40167
chr9101264430101264500E073-22485
chr9101264682101264896E073-22089
chr9101266568101267319E073-19666
chr9101283482101283709E073-3276
chr9101300598101300688E07313613
chr9101300830101300916E07313845
chr9101300930101301348E07313945
chr9101313840101314100E07326855
chr9101320873101321235E07333888
chr9101332610101332810E07345625
chr9101332857101332905E07345872
chr9101332967101333335E07345982
chr9101333369101333432E07346384
chr9101333566101333680E07346581
chr9101334194101334244E07347209
chr9101334373101334508E07347388
chr9101240927101240977E081-46008
chr9101244364101244501E081-42484
chr9101244613101244850E081-42135
chr9101245307101245371E081-41614
chr9101245697101245762E081-41223
chr9101247599101247639E081-39346
chr9101267321101267388E081-19597
chr9101267536101267624E081-19361
chr9101267648101267707E081-19278
chr9101267838101267892E081-19093
chr9101267958101268030E081-18955
chr9101300598101300688E08113613
chr9101300830101300916E08113845
chr9101300930101301348E08113945
chr9101301518101301681E08114533
chr9101303972101304327E08116987
chr9101266568101267319E082-19666
chr9101267321101267388E082-19597
chr9101300930101301348E08213945
chr9101301518101301681E08214533