rs2779582

Homo sapiens
C>T
GABBR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0044 (1336/29832,GnomAD)
T=0036 (1075/29118,TOPMED)
T=0072 (361/5008,1000G)
T=0060 (232/3854,ALSPAC)
T=0059 (220/3708,TWINSUK)
chr9:98524835 (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.98524835C>T
GRCh37.p13 chr 9NC_000009.11:g.101287117C>T
GABBR2 RefSeqGeneNG_016426.1:g.189363G>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=0.890T=0.110
1000GenomesEast AsianSub1008C=0.886T=0.114
1000GenomesEuropeSub1006C=0.951T=0.049
1000GenomesGlobalStudy-wide5008C=0.928T=0.072
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.940T=0.060
The Genome Aggregation DatabaseAfricanSub8692C=0.989T=0.011
The Genome Aggregation DatabaseAmericanSub830C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1612C=0.895T=0.105
The Genome Aggregation DatabaseEuropeSub18396C=0.946T=0.053
The Genome Aggregation DatabaseGlobalStudy-wide29832C=0.955T=0.044
The Genome Aggregation DatabaseOtherSub302C=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.963T=0.036
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=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
rs27795820.000156alcohol consumption23743675

eQTL of rs2779582 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 rs2779582 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 )
chr9101244117101244221E067-42896
chr9101244364101244501E067-42616
chr9101244613101244850E067-42267
chr9101247599101247639E067-39478
chr9101264430101264500E067-22617
chr9101264682101264896E067-22221
chr9101301518101301681E06714401
chr9101302863101302998E06715746
chr9101333369101333432E06746252
chr9101333566101333680E06746449
chr9101334194101334244E06747077
chr9101266568101267319E068-19798
chr9101267321101267388E068-19729
chr9101244117101244221E069-42896
chr9101244364101244501E069-42616
chr9101264129101264423E069-22694
chr9101264430101264500E069-22617
chr9101264995101265632E069-21485
chr9101320873101321235E06933756
chr9101264020101264074E070-23043
chr9101266568101267319E070-19798
chr9101267321101267388E070-19729
chr9101300930101301348E07013813
chr9101320873101321235E07133756
chr9101321941101322119E07134824
chr9101322232101322436E07135115
chr9101248361101248411E072-38706
chr9101264129101264423E072-22694
chr9101264430101264500E072-22617
chr9101264682101264896E072-22221
chr9101265877101266026E072-21091
chr9101320873101321235E07233756
chr9101321669101321719E07234552
chr9101321941101322119E07234824
chr9101243726101243812E073-43305
chr9101244117101244221E073-42896
chr9101244364101244501E073-42616
chr9101246097101246201E073-40916
chr9101246382101246572E073-40545
chr9101246634101246818E073-40299
chr9101264430101264500E073-22617
chr9101264682101264896E073-22221
chr9101266568101267319E073-19798
chr9101283482101283709E073-3408
chr9101300598101300688E07313481
chr9101300830101300916E07313713
chr9101300930101301348E07313813
chr9101313840101314100E07326723
chr9101320873101321235E07333756
chr9101332610101332810E07345493
chr9101332857101332905E07345740
chr9101332967101333335E07345850
chr9101333369101333432E07346252
chr9101333566101333680E07346449
chr9101334194101334244E07347077
chr9101334373101334508E07347256
chr9101240927101240977E081-46140
chr9101244364101244501E081-42616
chr9101244613101244850E081-42267
chr9101245307101245371E081-41746
chr9101245697101245762E081-41355
chr9101247599101247639E081-39478
chr9101267321101267388E081-19729
chr9101267536101267624E081-19493
chr9101267648101267707E081-19410
chr9101267838101267892E081-19225
chr9101267958101268030E081-19087
chr9101300598101300688E08113481
chr9101300830101300916E08113713
chr9101300930101301348E08113813
chr9101301518101301681E08114401
chr9101303972101304327E08116855
chr9101266568101267319E082-19798
chr9101267321101267388E082-19729
chr9101300930101301348E08213813
chr9101301518101301681E08214401