rs823243

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0143 (4284/29922,GnomAD)
T==0176 (5136/29116,TOPMED)
T==0235 (1176/5008,1000G)
T==0036 (140/3854,ALSPAC)
T==0037 (137/3708,TWINSUK)
chr2:2844330 (GRCh38.p7) (2p25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
136 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.2844330T>C
GRCh37.p13 chr 2NC_000002.11:g.2848102T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.374C=0.626
1000GenomesAmericanSub694T=0.290C=0.710
1000GenomesEast AsianSub1008T=0.331C=0.669
1000GenomesEuropeSub1006T=0.037C=0.963
1000GenomesGlobalStudy-wide5008T=0.235C=0.765
1000GenomesSouth AsianSub978T=0.110C=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.036C=0.964
The Genome Aggregation DatabaseAfricanSub8698T=0.305C=0.695
The Genome Aggregation DatabaseAmericanSub838T=0.270C=0.730
The Genome Aggregation DatabaseEast AsianSub1610T=0.356C=0.644
The Genome Aggregation DatabaseEuropeSub18474T=0.043C=0.956
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.143C=0.856
The Genome Aggregation DatabaseOtherSub302T=0.100C=0.900
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.176C=0.823
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.037C=0.963
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
rs8232430.0008alcohol dependence20201924

eQTL of rs823243 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 rs823243 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 )
chr228434202843474E067-4628
chr228435132843576E067-4526
chr228436412844171E067-3931
chr228496732851442E0671571
chr228523642852899E0674262
chr228529412853187E0674839
chr228805682881032E06732466
chr228812522881602E06733150
chr228434202843474E068-4628
chr228435132843576E068-4526
chr228436412844171E068-3931
chr228496732851442E0681571
chr228739832874053E06825881
chr228801392880252E06832037
chr228803082880560E06832206
chr228805682881032E06832466
chr228812522881602E06833150
chr228833742883455E06835272
chr228837212883775E06835619
chr228379352837990E069-10112
chr228381222838205E069-9897
chr228434202843474E069-4628
chr228435132843576E069-4526
chr228436412844171E069-3931
chr228496732851442E0691571
chr228801392880252E06932037
chr228803082880560E06932206
chr228805682881032E06932466
chr228812522881602E06933150
chr228434202843474E070-4628
chr228435132843576E070-4526
chr228436412844171E070-3931
chr228490672849266E070965
chr228496732851442E0701571
chr228523642852899E0704262
chr228529412853187E0704839
chr228542282854369E0706126
chr228545442854651E0706442
chr228547112854871E0706609
chr228548842854934E0706782
chr228555342855708E0707432
chr228557622855816E0707660
chr228572612857351E0709159
chr228713542871425E07023252
chr228714812871605E07023379
chr228716882871781E07023586
chr228720142872058E07023912
chr228721742872254E07024072
chr228801392880252E07032037
chr228803082880560E07032206
chr228833742883455E07035272
chr228837212883775E07035619
chr228434202843474E071-4628
chr228435132843576E071-4526
chr228436412844171E071-3931
chr228496732851442E0711571
chr228801392880252E07132037
chr228803082880560E07132206
chr228805682881032E07132466
chr228812522881602E07133150
chr228434202843474E072-4628
chr228435132843576E072-4526
chr228436412844171E072-3931
chr228496732851442E0721571
chr228805682881032E07232466
chr228812522881602E07233150
chr228325822832848E073-15254
chr228354562835758E073-12344
chr228434202843474E073-4628
chr228435132843576E073-4526
chr228436412844171E073-3931
chr228496732851442E0731571
chr228523642852899E0734262
chr228529412853187E0734839
chr228801392880252E07332037
chr228803082880560E07332206
chr228805682881032E07332466
chr228812522881602E07333150
chr228434202843474E074-4628
chr228435132843576E074-4526
chr228496732851442E0741571
chr227997482799988E081-48114
chr228118872811980E081-36122
chr228121612812224E081-35878
chr228325822832848E081-15254
chr228379352837990E081-10112
chr228381222838205E081-9897
chr228384652838528E081-9574
chr228434202843474E081-4628
chr228435132843576E081-4526
chr228436412844171E081-3931
chr228447292844826E081-3276
chr228490672849266E081965
chr228496732851442E0811571
chr228523642852899E0814262
chr228529412853187E0814839
chr228542282854369E0816126
chr228545442854651E0816442
chr228547112854871E0816609
chr228548842854934E0816782
chr228555342855708E0817432
chr228557622855816E0817660
chr228703092870452E08122207
chr228713542871425E08123252
chr228714812871605E08123379
chr228716882871781E08123586
chr228720142872058E08123912
chr228721742872254E08124072
chr228801392880252E08132037
chr228803082880560E08132206
chr228805682881032E08132466
chr228812522881602E08133150
chr228833742883455E08135272
chr228837212883775E08135619
chr228853202885530E08137218
chr228964002896529E08148298
chr228434202843474E082-4628
chr228435132843576E082-4526
chr228436412844171E082-3931
chr228490672849266E082965
chr228496732851442E0821571
chr228523642852899E0824262
chr228529412853187E0824839
chr228542282854369E0826126
chr228545442854651E0826442
chr228547112854871E0826609
chr228548842854934E0826782
chr228555342855708E0827432
chr228557622855816E0827660
chr228703092870452E08222207
chr228713542871425E08223252
chr228714812871605E08223379
chr228716882871781E08223586
chr228720142872058E08223912
chr228721742872254E08224072
chr228801392880252E08232037










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr228418352841961E069-6141
chr228418352841961E072-6141