rs4707535

Homo sapiens
T>C
GABRR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0192 (5770/29960,GnomAD)
T==0174 (5071/29118,TOPMED)
T==0196 (980/5008,1000G)
T==0201 (775/3854,ALSPAC)
T==0196 (725/3708,TWINSUK)
chr6:89268187 (GRCh38.p7) (6q15)
AD
GWASdb2
1   publication(s)
See rs on genome
48 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.89268187T>C
GRCh37.p13 chr 6NC_000006.11:g.89977906T>C
GABRR2 RefSeqGeneNG_033977.2:g.52113A>G

Gene: GABRR2, gamma-aminobutyric acid type A receptor rho2 subunit(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GABRR2 transcriptNM_002043.4:c.N/AIntron Variant
GABRR2 transcript variant X1XM_011535713.2:c.N/AIntron Variant
GABRR2 transcript variant X2XM_011535714.2:c.N/AIntron Variant
GABRR2 transcript variant X3XM_011535715.2:c.N/AIntron Variant
GABRR2 transcript variant X4XM_011535716.2:c.N/AIntron Variant
GABRR2 transcript variant X5XM_011535717.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.096C=0.904
1000GenomesAmericanSub694T=0.320C=0.680
1000GenomesEast AsianSub1008T=0.277C=0.723
1000GenomesEuropeSub1006T=0.225C=0.775
1000GenomesGlobalStudy-wide5008T=0.196C=0.804
1000GenomesSouth AsianSub978T=0.130C=0.870
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.201C=0.799
The Genome Aggregation DatabaseAfricanSub8720T=0.120C=0.880
The Genome Aggregation DatabaseAmericanSub836T=0.270C=0.730
The Genome Aggregation DatabaseEast AsianSub1616T=0.306C=0.694
The Genome Aggregation DatabaseEuropeSub18486T=0.211C=0.788
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.192C=0.807
The Genome Aggregation DatabaseOtherSub302T=0.290C=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.174C=0.825
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.196C=0.804
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
rs47075350.0000597alcoholismpha002892
rs47075350.00006alcohol dependence(early age of onset)20201924
rs47075350.00093alcohol dependence20201924

eQTL of rs4707535 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 rs4707535 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 )
chr69002134290022564E06743436
chr69002256890022681E06744662
chr69002277090023080E06744864
chr69002315290023343E06745246
chr69000878690009054E06830880
chr69000925090009514E06831344
chr69002256890022681E06844662
chr69002277090023080E06844864
chr69002315290023343E06845246
chr69000878690009054E06930880
chr69002256890022681E06944662
chr69002277090023080E06944864
chr69002315290023343E06945246
chr69002063590021136E07042729
chr69002134290022564E07043436
chr69002256890022681E07044662
chr69002277090023080E07044864
chr69002315290023343E07045246
chr69000878690009054E07130880
chr69000925090009514E07131344
chr69002063590021136E07142729
chr69002256890022681E07144662
chr69002277090023080E07144864
chr69002315290023343E07145246
chr69000878690009054E07230880
chr69000925090009514E07231344
chr69002134290022564E07243436
chr69002256890022681E07244662
chr69002277090023080E07244864
chr69002315290023343E07245246
chr69002134290022564E07343436
chr69002256890022681E07344662
chr69002277090023080E07344864
chr69002315290023343E07345246
chr69000878690009054E07430880
chr69002134290022564E07443436
chr69002256890022681E07444662
chr69002277090023080E07444864
chr69002315290023343E07445246
chr69002134290022564E08143436
chr69002256890022681E08144662
chr69002277090023080E08144864
chr69002315290023343E08145246
chr69002378990023900E08145883
chr69002393890024225E08146032
chr69002134290022564E08243436
chr69002256890022681E08244662
chr69002277090023080E08244864