rs2779556

Homo sapiens
A>C
GABBR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0035 (1066/29972,GnomAD)
A==0031 (911/29118,TOPMED)
A==0048 (242/5008,1000G)
A==0043 (164/3854,ALSPAC)
A==0046 (171/3708,TWINSUK)
chr9:98503008 (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.98503008A>C
GRCh37.p13 chr 9NC_000009.11:g.101265290A>C
GABBR2 RefSeqGeneNG_016426.1:g.211190T>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
1000GenomesAfricanSub1322A=0.005C=0.995
1000GenomesAmericanSub694A=0.100C=0.900
1000GenomesEast AsianSub1008A=0.059C=0.941
1000GenomesEuropeSub1006A=0.047C=0.953
1000GenomesGlobalStudy-wide5008A=0.048C=0.952
1000GenomesSouth AsianSub978A=0.060C=0.940
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.043C=0.957
The Genome Aggregation DatabaseAfricanSub8724A=0.010C=0.990
The Genome Aggregation DatabaseAmericanSub836A=0.140C=0.860
The Genome Aggregation DatabaseEast AsianSub1622A=0.048C=0.952
The Genome Aggregation DatabaseEuropeSub18488A=0.042C=0.958
The Genome Aggregation DatabaseGlobalStudy-wide29972A=0.035C=0.964
The Genome Aggregation DatabaseOtherSub302A=0.010C=0.990
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.031C=0.968
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.046C=0.954
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs27795560.00099alcohol dependence20201924

eQTL of rs2779556 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 rs2779556 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 )
chr9101218103101218582E067-46708
chr9101244117101244221E067-21069
chr9101244364101244501E067-20789
chr9101244613101244850E067-20440
chr9101247599101247639E067-17651
chr9101264430101264500E067-790
chr9101264682101264896E067-394
chr9101301518101301681E06736228
chr9101302863101302998E06737573
chr9101266568101267319E0681278
chr9101267321101267388E0682031
chr9101244117101244221E069-21069
chr9101244364101244501E069-20789
chr9101264129101264423E069-867
chr9101264430101264500E069-790
chr9101264995101265632E0690
chr9101264020101264074E070-1216
chr9101266568101267319E0701278
chr9101267321101267388E0702031
chr9101300930101301348E07035640
chr9101248361101248411E072-16879
chr9101264129101264423E072-867
chr9101264430101264500E072-790
chr9101264682101264896E072-394
chr9101265877101266026E072587
chr9101243726101243812E073-21478
chr9101244117101244221E073-21069
chr9101244364101244501E073-20789
chr9101246097101246201E073-19089
chr9101246382101246572E073-18718
chr9101246634101246818E073-18472
chr9101264430101264500E073-790
chr9101264682101264896E073-394
chr9101266568101267319E0731278
chr9101283482101283709E07318192
chr9101300598101300688E07335308
chr9101300830101300916E07335540
chr9101300930101301348E07335640
chr9101313840101314100E07348550
chr9101218103101218582E081-46708
chr9101240927101240977E081-24313
chr9101244364101244501E081-20789
chr9101244613101244850E081-20440
chr9101245307101245371E081-19919
chr9101245697101245762E081-19528
chr9101247599101247639E081-17651
chr9101267321101267388E0812031
chr9101267536101267624E0812246
chr9101267648101267707E0812358
chr9101267838101267892E0812548
chr9101267958101268030E0812668
chr9101300598101300688E08135308
chr9101300830101300916E08135540
chr9101300930101301348E08135640
chr9101301518101301681E08136228
chr9101303972101304327E08138682
chr9101266568101267319E0821278
chr9101267321101267388E0822031
chr9101300930101301348E08235640
chr9101301518101301681E08236228