rs12516181

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0210 (6298/29938,GnomAD)
C=0172 (5030/29118,TOPMED)
C=0200 (1004/5008,1000G)
C=0255 (982/3854,ALSPAC)
C=0249 (923/3708,TWINSUK)
chr5:91743223 (GRCh38.p7) (5q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.91743223T>C
GRCh37.p13 chr 5NC_000005.9:g.91039040T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.949C=0.051
1000GenomesAmericanSub694T=0.700C=0.300
1000GenomesEast AsianSub1008T=0.721C=0.279
1000GenomesEuropeSub1006T=0.765C=0.235
1000GenomesGlobalStudy-wide5008T=0.800C=0.200
1000GenomesSouth AsianSub978T=0.790C=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.745C=0.255
The Genome Aggregation DatabaseAfricanSub8714T=0.917C=0.083
The Genome Aggregation DatabaseAmericanSub838T=0.700C=0.300
The Genome Aggregation DatabaseEast AsianSub1610T=0.722C=0.278
The Genome Aggregation DatabaseEuropeSub18474T=0.738C=0.261
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.789C=0.210
The Genome Aggregation DatabaseOtherSub302T=0.820C=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.827C=0.172
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.751C=0.249
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
rs125161810.0001alcohol dependence(early age of onset)20201924
rs125161810.00015alcohol dependence20201924

eQTL of rs12516181 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 rs12516181 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 )
chr59103800791038307E070-733
chr59103858791038771E070-269
chr59102566591025715E081-13325
chr59102585391026285E081-12755
chr59102639591026456E081-12584
chr59102585391026285E082-12755
chr59102639591026456E082-12584
chr59103691491037138E082-1902