rs2880547

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0123 (3688/29960,GnomAD)
C=0152 (4429/29118,TOPMED)
C=0118 (589/5008,1000G)
C=0103 (396/3854,ALSPAC)
C=0103 (382/3708,TWINSUK)
chr13:87088047 (GRCh38.p7) (13q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.87088047T>C
GRCh37.p13 chr 13NC_000013.10:g.87740302T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.784C=0.216
1000GenomesAmericanSub694T=0.910C=0.090
1000GenomesEast AsianSub1008T=0.969C=0.031
1000GenomesEuropeSub1006T=0.906C=0.094
1000GenomesGlobalStudy-wide5008T=0.882C=0.118
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.897C=0.103
The Genome Aggregation DatabaseAfricanSub8722T=0.781C=0.219
The Genome Aggregation DatabaseAmericanSub838T=0.920C=0.080
The Genome Aggregation DatabaseEast AsianSub1622T=0.954C=0.046
The Genome Aggregation DatabaseEuropeSub18476T=0.913C=0.086
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.876C=0.123
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.847C=0.152
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.897C=0.103
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs28805470.000129alcohol consumption23743675

eQTL of rs2880547 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 rs2880547 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 )
chr138778075187780970E07040449
chr138778099087781070E07040688
chr138778113987781194E07040837
chr138778136187781523E07041059
chr138778160987781698E07041307
chr138778189787782225E07041595
chr138778224887782420E07041946
chr138778273087782844E07042428
chr138778399687784117E07043694