rs2813323

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
G==0098 (2946/29948,GnomAD)
G==0136 (3974/29118,TOPMED)
G==0149 (744/5008,1000G)
G==0030 (115/3854,ALSPAC)
G==0025 (94/3708,TWINSUK)
chr10:50279397 (GRCh38.p7) (10q11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.50279397G>A
GRCh37.p13 chr 10NC_000010.10:g.52039157G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.315A=0.685
1000GenomesAmericanSub694G=0.080A=0.920
1000GenomesEast AsianSub1008G=0.075A=0.925
1000GenomesEuropeSub1006G=0.029A=0.971
1000GenomesGlobalStudy-wide5008G=0.149A=0.851
1000GenomesSouth AsianSub978G=0.170A=0.830
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.030A=0.970
The Genome Aggregation DatabaseAfricanSub8696G=0.266A=0.734
The Genome Aggregation DatabaseAmericanSub838G=0.070A=0.930
The Genome Aggregation DatabaseEast AsianSub1618G=0.061A=0.939
The Genome Aggregation DatabaseEuropeSub18494G=0.024A=0.975
The Genome Aggregation DatabaseGlobalStudy-wide29948G=0.098A=0.901
The Genome Aggregation DatabaseOtherSub302G=0.080A=0.920
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.136A=0.863
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.025A=0.975
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
rs28133230.000779alcohol dependence20201924

eQTL of rs2813323 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 rs2813323 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 )
chr105207507852075217E06735921
chr105207522152075727E06736064
chr105207576452076060E06736607
chr105207609052076276E06736933
chr105208515252085899E06745995
chr105208647752087303E06747320
chr105204594852047526E0686791
chr105207507852075217E06835921
chr105207522152075727E06836064
chr105207576452076060E06836607
chr105207609052076276E06836933
chr105207642752076978E06837270
chr105207699452077044E06837837
chr105207714952077341E06837992
chr105208139652081750E06842239
chr105208179152082210E06842634
chr105208625552086357E06847098
chr105208647752087303E06847320
chr105208733952087401E06848182
chr105204594852047526E0696791
chr105207507852075217E06935921
chr105207522152075727E06936064
chr105207576452076060E06936607
chr105207609052076276E06936933
chr105207642752076978E06937270
chr105207699452077044E06937837
chr105207714952077341E06937992
chr105208301152083211E06943854
chr105208323952083620E06944082
chr105208647752087303E06947320
chr105204594852047526E0716791
chr105207487952074929E07135722
chr105207507852075217E07135921
chr105207522152075727E07136064
chr105207576452076060E07136607
chr105207609052076276E07136933
chr105207642752076978E07137270
chr105207699452077044E07137837
chr105207714952077341E07137992
chr105208139652081750E07142239
chr105208179152082210E07142634
chr105208323952083620E07144082
chr105208485052084900E07145693
chr105208515252085899E07145995
chr105208647752087303E07147320
chr105204594852047526E0726791
chr105207507852075217E07235921
chr105207522152075727E07236064
chr105207576452076060E07236607
chr105207609052076276E07236933
chr105207642752076978E07237270
chr105207699452077044E07237837
chr105207714952077341E07237992
chr105208139652081750E07242239
chr105208179152082210E07242634
chr105208430352084401E07245146
chr105208485052084900E07245693
chr105208515252085899E07245995
chr105208647752087303E07247320
chr105207576452076060E07336607
chr105207609052076276E07336933
chr105205140752051561E07412250
chr105207507852075217E07435921
chr105207522152075727E07436064
chr105207576452076060E07436607
chr105207609052076276E07436933
chr105207642752076978E07437270
chr105208139652081750E07442239
chr105208179152082210E07442634
chr105208515252085899E07445995
chr105208647752087303E07447320
chr105204571152045761E0816554
chr105204594852047526E0816791
chr105204762152047698E0818464
chr105204773052047795E0818573
chr105204779652047872E0818639
chr105207507852075217E08135921
chr105207522152075727E08136064
chr105207576452076060E08136607
chr105207609052076276E08136933
chr105207642752076978E08137270
chr105208625552086357E08147098
chr105208647752087303E08147320
chr105208733952087401E08148182
chr105207576452076060E08236607
chr105207609052076276E08236933
chr105207642752076978E08237270
chr105208647752087303E08247320