rs428838

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0173 (5175/29906,GnomAD)
T==0158 (4600/29118,TOPMED)
T==0222 (1112/5008,1000G)
T==0199 (766/3854,ALSPAC)
T==0198 (734/3708,TWINSUK)
chr8:87468674 (GRCh38.p7) (8q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.87468674T>C
GRCh37.p13 chr 8NC_000008.10:g.88480902T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.082C=0.918
1000GenomesAmericanSub694T=0.260C=0.740
1000GenomesEast AsianSub1008T=0.394C=0.606
1000GenomesEuropeSub1006T=0.214C=0.786
1000GenomesGlobalStudy-wide5008T=0.222C=0.778
1000GenomesSouth AsianSub978T=0.220C=0.780
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.199C=0.801
The Genome Aggregation DatabaseAfricanSub8726T=0.095C=0.905
The Genome Aggregation DatabaseAmericanSub838T=0.260C=0.740
The Genome Aggregation DatabaseEast AsianSub1612T=0.400C=0.600
The Genome Aggregation DatabaseEuropeSub18428T=0.185C=0.814
The Genome Aggregation DatabaseGlobalStudy-wide29906T=0.173C=0.827
The Genome Aggregation DatabaseOtherSub302T=0.240C=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.158C=0.842
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.198C=0.802
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
rs4288380.00027alcohol dependence(early age of onset)20201924
rs4288380.00066alcohol dependence20201924

eQTL of rs428838 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 rs428838 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.