rs1808374

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0057 (1713/29970,GnomAD)
T=0057 (1687/29118,TOPMED)
T=0048 (239/5008,1000G)
T=0078 (299/3854,ALSPAC)
T=0082 (304/3708,TWINSUK)
chr5:170826977 (GRCh38.p7) (5q35.1)
AD
GWASdb2
1   publication(s)
See rs on genome
19 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.170826977C>T
GRCh37.p13 chr 5NC_000005.9:g.170253981C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.949T=0.051
1000GenomesAmericanSub694C=0.880T=0.120
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.939T=0.061
1000GenomesGlobalStudy-wide5008C=0.952T=0.048
1000GenomesSouth AsianSub978C=0.970T=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.922T=0.078
The Genome Aggregation DatabaseAfricanSub8722C=0.956T=0.044
The Genome Aggregation DatabaseAmericanSub838C=0.880T=0.120
The Genome Aggregation DatabaseEast AsianSub1622C=0.996T=0.004
The Genome Aggregation DatabaseEuropeSub18486C=0.934T=0.065
The Genome Aggregation DatabaseGlobalStudy-wide29970C=0.942T=0.057
The Genome Aggregation DatabaseOtherSub302C=0.960T=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.942T=0.057
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.918T=0.082
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
rs18083740.0004alcohol dependence(early age of onset)20201924
rs18083740.00075alcohol dependence20201924

eQTL of rs1808374 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 rs1808374 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 )
chr5170209570170209728E068-44253
chr5170209937170210118E068-43863
chr5170210170170210292E068-43689
chr5170209321170209406E069-44575
chr5170209459170209554E069-44427
chr5170209570170209728E069-44253
chr5170209937170210118E069-43863
chr5170210170170210292E069-43689
chr5170209147170209246E070-44735
chr5170209321170209406E070-44575
chr5170209459170209554E070-44427
chr5170209570170209728E070-44253
chr5170209937170210118E070-43863
chr5170209147170209246E074-44735
chr5170209321170209406E074-44575
chr5170209459170209554E074-44427
chr5170273214170274257E08119233
chr5170275058170275120E08121077
chr5170275181170275415E08121200





Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5170288312170289993E06734331
chr5170288312170289993E06934331
chr5170288312170289993E07034331
chr5170288312170289993E07134331
chr5170288312170289993E07234331
chr5170288312170289993E07334331
chr5170288312170289993E07434331
chr5170288312170289993E08234331