rs874278

Homo sapiens
G>A
GABBR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0217 (6500/29924,GnomAD)
A=0241 (7030/29118,TOPMED)
A=0243 (1215/5008,1000G)
A=0190 (732/3854,ALSPAC)
A=0194 (721/3708,TWINSUK)
chr9:98487141 (GRCh38.p7) (9q22.33)
AD
GWASdb2
1   publication(s)
See rs on genome
51 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.98487141G>A
GRCh37.p13 chr 9NC_000009.11:g.101249423G>A
GABBR2 RefSeqGeneNG_016426.1:g.227057C>T

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/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.674A=0.326
1000GenomesAmericanSub694G=0.740A=0.260
1000GenomesEast AsianSub1008G=0.777A=0.223
1000GenomesEuropeSub1006G=0.814A=0.186
1000GenomesGlobalStudy-wide5008G=0.757A=0.243
1000GenomesSouth AsianSub978G=0.800A=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.810A=0.190
The Genome Aggregation DatabaseAfricanSub8702G=0.718A=0.282
The Genome Aggregation DatabaseAmericanSub838G=0.720A=0.280
The Genome Aggregation DatabaseEast AsianSub1610G=0.765A=0.235
The Genome Aggregation DatabaseEuropeSub18472G=0.819A=0.180
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.782A=0.217
The Genome Aggregation DatabaseOtherSub302G=0.680A=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.758A=0.241
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.806A=0.194
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs8742780.000701alcohol consumption (maxi-drinks)24277619

eQTL of rs874278 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 rs874278 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 )
chr9101218103101218582E067-30841
chr9101244117101244221E067-5202
chr9101244364101244501E067-4922
chr9101244613101244850E067-4573
chr9101247599101247639E067-1784
chr9101264430101264500E06715007
chr9101264682101264896E06715259
chr9101266568101267319E06817145
chr9101267321101267388E06817898
chr9101244117101244221E069-5202
chr9101244364101244501E069-4922
chr9101264129101264423E06914706
chr9101264430101264500E06915007
chr9101264995101265632E06915572
chr9101264020101264074E07014597
chr9101266568101267319E07017145
chr9101267321101267388E07017898
chr9101204479101204708E072-44715
chr9101204892101205200E072-44223
chr9101248361101248411E072-1012
chr9101264129101264423E07214706
chr9101264430101264500E07215007
chr9101264682101264896E07215259
chr9101265877101266026E07216454
chr9101200248101200298E073-49125
chr9101200515101200555E073-48868
chr9101200985101201149E073-48274
chr9101243726101243812E073-5611
chr9101244117101244221E073-5202
chr9101244364101244501E073-4922
chr9101246097101246201E073-3222
chr9101246382101246572E073-2851
chr9101246634101246818E073-2605
chr9101264430101264500E07315007
chr9101264682101264896E07315259
chr9101266568101267319E07317145
chr9101283482101283709E07334059
chr9101218103101218582E081-30841
chr9101240927101240977E081-8446
chr9101244364101244501E081-4922
chr9101244613101244850E081-4573
chr9101245307101245371E081-4052
chr9101245697101245762E081-3661
chr9101247599101247639E081-1784
chr9101267321101267388E08117898
chr9101267536101267624E08118113
chr9101267648101267707E08118225
chr9101267838101267892E08118415
chr9101267958101268030E08118535
chr9101266568101267319E08217145
chr9101267321101267388E08217898