rs9707971

Homo sapiens
A>G
GABRG3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0309 (9250/29938,GnomAD)
G=0384 (11183/29118,TOPMED)
G=0354 (1772/5008,1000G)
G=0241 (928/3854,ALSPAC)
G=0222 (824/3708,TWINSUK)
chr15:27363004 (GRCh38.p7) (15q12)
AD
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.27363004A>G
GRCh37.p13 chr 15NC_000015.9:g.27608150A>G
GABRG3 RefSeqGeneNG_032887.1:g.396722A>G

Gene: GABRG3, gamma-aminobutyric acid type A receptor gamma3 subunit(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GABRG3 transcript variant 2NM_001270873.1:c.N/AIntron Variant
GABRG3 transcript variant 1NM_033223.4:c.N/AIntron Variant
GABRG3 transcript variant X1XM_011521430.2:c.N/AIntron Variant
GABRG3 transcript variant X2XM_017022058.1:c.N/AIntron Variant
GABRG3 transcript variant X3XM_017022059.1:c.N/AIntron Variant
GABRG3 transcript variant X5XM_011521431.2:c.N/AGenic Upstream Transcript Variant
GABRG3 transcript variant X4XM_017022060.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.446G=0.554
1000GenomesAmericanSub694A=0.610G=0.390
1000GenomesEast AsianSub1008A=0.841G=0.159
1000GenomesEuropeSub1006A=0.736G=0.264
1000GenomesGlobalStudy-wide5008A=0.646G=0.354
1000GenomesSouth AsianSub978A=0.650G=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.759G=0.241
The Genome Aggregation DatabaseAfricanSub8700A=0.475G=0.525
The Genome Aggregation DatabaseAmericanSub838A=0.630G=0.370
The Genome Aggregation DatabaseEast AsianSub1618A=0.863G=0.137
The Genome Aggregation DatabaseEuropeSub18480A=0.780G=0.220
The Genome Aggregation DatabaseGlobalStudy-wide29938A=0.691G=0.309
The Genome Aggregation DatabaseOtherSub302A=0.720G=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.615G=0.384
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.778G=0.222
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
rs97079718.29E-05alcohol consumption23743675

eQTL of rs9707971 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 rs9707971 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 )
chr152757285227574161E068-33989
chr152757285227574161E069-33989
chr152757285227574161E070-33989
chr152760737627607557E070-593
chr152764371927643826E07035569
chr152764396427644090E07035814
chr152764410027644200E07035950
chr152764447827644763E07036328
chr152764749027647737E07039340
chr152757252627572615E071-35535
chr152757272327572773E071-35377
chr152758764227587850E071-20300
chr152758796727588200E071-19950
chr152758822427588431E071-19719
chr152760372527603775E073-4375
chr152758717227587467E074-20683
chr152758764227587850E074-20300
chr152757285227574161E081-33989
chr152760483027605000E081-3150
chr152760518027605242E081-2908
chr152764371927643826E08135569
chr152764396427644090E08135814
chr152757285227574161E082-33989
chr152760737627607557E082-593
chr152763356927633893E08225419
chr152763400227634052E08225852
chr152764153827642167E08233388
chr152764243327642506E08234283
chr152764257627642653E08234426
chr152764396427644090E08235814
chr152764410027644200E08235950
chr152764447827644763E08236328
chr152764578427647421E08237634








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr152760389527604225E067-3925
chr152760389527604225E068-3925
chr152760389527604225E071-3925
chr152760389527604225E073-3925