rs2320289

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0201 (6045/29942,GnomAD)
C=0213 (6204/29118,TOPMED)
C=0259 (1296/5008,1000G)
C=0186 (715/3854,ALSPAC)
C=0205 (760/3708,TWINSUK)
chr4:18160481 (GRCh38.p7) (4p15.31)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.18160481A>C
GRCh37.p13 chr 4NC_000004.11:g.18162104A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.787C=0.213
1000GenomesAmericanSub694A=0.730C=0.270
1000GenomesEast AsianSub1008A=0.544C=0.456
1000GenomesEuropeSub1006A=0.802C=0.198
1000GenomesGlobalStudy-wide5008A=0.741C=0.259
1000GenomesSouth AsianSub978A=0.830C=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.814C=0.186
The Genome Aggregation DatabaseAfricanSub8724A=0.798C=0.202
The Genome Aggregation DatabaseAmericanSub836A=0.710C=0.290
The Genome Aggregation DatabaseEast AsianSub1608A=0.526C=0.474
The Genome Aggregation DatabaseEuropeSub18474A=0.825C=0.174
The Genome Aggregation DatabaseGlobalStudy-wide29942A=0.798C=0.201
The Genome Aggregation DatabaseOtherSub300A=0.830C=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.786C=0.213
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.795C=0.205
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry
19299336Genome-wide association study to identify novel loci associated with therapy-related myeloid leukemia susceptibility.Knight JABlood

P-Value

SNP ID p-value Traits Study
rs23202894.9E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2320289 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 rs2320289 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.