rs4384980

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0482 (14259/29556,GnomAD)
A==0494 (14387/29118,TOPMED)
C=0491 (2460/5008,1000G)
C=0399 (1539/3854,ALSPAC)
C=0408 (1514/3708,TWINSUK)
chr3:182741281 (GRCh38.p7) (3q26.33)
AD
GWASdb2
2   publication(s)
See rs on genome
7 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.182741281A>C
GRCh37.p13 chr 3NC_000003.11:g.182459069A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.408C=0.592
1000GenomesAmericanSub694A=0.540C=0.460
1000GenomesEast AsianSub1008A=0.455C=0.545
1000GenomesEuropeSub1006A=0.541C=0.459
1000GenomesGlobalStudy-wide5008A=0.509C=0.491
1000GenomesSouth AsianSub978A=0.640C=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.601C=0.399
The Genome Aggregation DatabaseAfricanSub8646A=0.431C=0.569
The Genome Aggregation DatabaseAmericanSub814A=0.490C=0.510
The Genome Aggregation DatabaseEast AsianSub1610A=0.416C=0.584
The Genome Aggregation DatabaseEuropeSub18184A=0.569C=0.430
The Genome Aggregation DatabaseGlobalStudy-wide29556A=0.517C=0.482
The Genome Aggregation DatabaseOtherSub302A=0.480C=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.494C=0.505
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.592C=0.408
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
23691058Dosage transmission disequilibrium test (dTDT) for linkage and association detection.Zhang ZPLoS One

P-Value

SNP ID p-value Traits Study
rs43849800.000000578alcohol dependence23691058
rs43849800.00032alcohol dependence20201924

eQTL of rs4384980 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 rs4384980 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 )
chr3182443261182443383E068-15686
chr3182443388182443787E068-15282
chr3182443261182443383E069-15686
chr3182443388182443787E069-15282
chr3182443261182443383E073-15686
chr3182443388182443787E073-15282
chr3182443894182444052E074-15017