rs721250

Homo sapiens
C>A / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0427 (12803/29924,GnomAD)
C==0419 (12219/29116,TOPMED)
C==0448 (2242/5008,1000G)
C==0462 (1779/3854,ALSPAC)
C==0467 (1732/3708,TWINSUK)
chr2:59549881 (GRCh38.p7) (2p16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.59549881C>A
GRCh38.p7 chr 2NC_000002.12:g.59549881C>T
GRCh37.p13 chr 2NC_000002.11:g.59777016C>A
GRCh37.p13 chr 2NC_000002.11:g.59777016C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.343T=0.657
1000GenomesAmericanSub694C=0.450T=0.550
1000GenomesEast AsianSub1008C=0.526T=0.474
1000GenomesEuropeSub1006C=0.467T=0.533
1000GenomesGlobalStudy-wide5008C=0.448T=0.552
1000GenomesSouth AsianSub978C=0.490T=0.510
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.462T=0.538
The Genome Aggregation DatabaseAfricanSub8712C=0.358A=0.000
The Genome Aggregation DatabaseAmericanSub838C=0.470A=0.00,
The Genome Aggregation DatabaseEast AsianSub1608C=0.540A=0.000
The Genome Aggregation DatabaseEuropeSub18464C=0.448A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29924C=0.427A=0.000
The Genome Aggregation DatabaseOtherSub302C=0.480A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.419T=0.580
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.467T=0.533
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
rs7212502.94E-05alcohol consumption23743675

eQTL of rs721250 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 rs721250 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr24114192541142045E082-29436
chr24114216441142204E082-29277
chr24114234241142462E082-29019
chr24114285941143254E082-28227