rs944760

Homo sapiens
G>T
GABBR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0044 (1333/29972,GnomAD)
T=0036 (1072/29118,TOPMED)
T=0073 (368/5008,1000G)
T=0060 (232/3854,ALSPAC)
T=0059 (220/3708,TWINSUK)
chr9:98521459 (GRCh38.p7) (9q22.33)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.98521459G>T
GRCh37.p13 chr 9NC_000009.11:g.101283741G>T
GABBR2 RefSeqGeneNG_016426.1:g.192739C>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
1000GenomesAfricanSub1322G=0.997T=0.003
1000GenomesAmericanSub694G=0.890T=0.110
1000GenomesEast AsianSub1008G=0.887T=0.113
1000GenomesEuropeSub1006G=0.951T=0.049
1000GenomesGlobalStudy-wide5008G=0.927T=0.073
1000GenomesSouth AsianSub978G=0.870T=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.940T=0.060
The Genome Aggregation DatabaseAfricanSub8724G=0.989T=0.011
The Genome Aggregation DatabaseAmericanSub838G=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1620G=0.895T=0.105
The Genome Aggregation DatabaseEuropeSub18488G=0.947T=0.052
The Genome Aggregation DatabaseGlobalStudy-wide29972G=0.955T=0.044
The Genome Aggregation DatabaseOtherSub302G=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.963T=0.036
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=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
rs9447600.000158alcohol consumption23743675

eQTL of rs944760 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 rs944760 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 )
chr9101244117101244221E067-39520
chr9101244364101244501E067-39240
chr9101244613101244850E067-38891
chr9101247599101247639E067-36102
chr9101264430101264500E067-19241
chr9101264682101264896E067-18845
chr9101301518101301681E06717777
chr9101302863101302998E06719122
chr9101333369101333432E06749628
chr9101333566101333680E06749825
chr9101266568101267319E068-16422
chr9101267321101267388E068-16353
chr9101244117101244221E069-39520
chr9101244364101244501E069-39240
chr9101264129101264423E069-19318
chr9101264430101264500E069-19241
chr9101264995101265632E069-18109
chr9101320873101321235E06937132
chr9101264020101264074E070-19667
chr9101266568101267319E070-16422
chr9101267321101267388E070-16353
chr9101300930101301348E07017189
chr9101320873101321235E07137132
chr9101321941101322119E07138200
chr9101322232101322436E07138491
chr9101248361101248411E072-35330
chr9101264129101264423E072-19318
chr9101264430101264500E072-19241
chr9101264682101264896E072-18845
chr9101265877101266026E072-17715
chr9101320873101321235E07237132
chr9101321669101321719E07237928
chr9101321941101322119E07238200
chr9101243726101243812E073-39929
chr9101244117101244221E073-39520
chr9101244364101244501E073-39240
chr9101246097101246201E073-37540
chr9101246382101246572E073-37169
chr9101246634101246818E073-36923
chr9101264430101264500E073-19241
chr9101264682101264896E073-18845
chr9101266568101267319E073-16422
chr9101283482101283709E073-32
chr9101300598101300688E07316857
chr9101300830101300916E07317089
chr9101300930101301348E07317189
chr9101313840101314100E07330099
chr9101320873101321235E07337132
chr9101332610101332810E07348869
chr9101332857101332905E07349116
chr9101332967101333335E07349226
chr9101333369101333432E07349628
chr9101333566101333680E07349825
chr9101240927101240977E081-42764
chr9101244364101244501E081-39240
chr9101244613101244850E081-38891
chr9101245307101245371E081-38370
chr9101245697101245762E081-37979
chr9101247599101247639E081-36102
chr9101267321101267388E081-16353
chr9101267536101267624E081-16117
chr9101267648101267707E081-16034
chr9101267838101267892E081-15849
chr9101267958101268030E081-15711
chr9101300598101300688E08116857
chr9101300830101300916E08117089
chr9101300930101301348E08117189
chr9101301518101301681E08117777
chr9101303972101304327E08120231
chr9101266568101267319E082-16422
chr9101267321101267388E082-16353
chr9101300930101301348E08217189
chr9101301518101301681E08217777