rs964818

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0138 (4133/29924,GnomAD)
A=0120 (3507/29118,TOPMED)
A=0196 (983/5008,1000G)
A=0143 (552/3854,ALSPAC)
A=0138 (513/3708,TWINSUK)
chr2:226267064 (GRCh38.p7) (2q36.3)
AD
GWASdb2
2   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.226267064C>A
GRCh37.p13 chr 2NC_000002.11:g.227131780C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.935A=0.065
1000GenomesAmericanSub694C=0.830A=0.170
1000GenomesEast AsianSub1008C=0.665A=0.335
1000GenomesEuropeSub1006C=0.837A=0.163
1000GenomesGlobalStudy-wide5008C=0.804A=0.196
1000GenomesSouth AsianSub978C=0.720A=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.857A=0.143
The Genome Aggregation DatabaseAfricanSub8724C=0.924A=0.076
The Genome Aggregation DatabaseAmericanSub838C=0.830A=0.170
The Genome Aggregation DatabaseEast AsianSub1586C=0.654A=0.346
The Genome Aggregation DatabaseEuropeSub18476C=0.852A=0.147
The Genome Aggregation DatabaseGlobalStudy-wide29924C=0.861A=0.138
The Genome Aggregation DatabaseOtherSub300C=0.810A=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.879A=0.120
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.862A=0.138
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
23659870Common variants in and near IRS1 and subclinical cardiovascular disease in the Framingham Heart Study.Lim SAtherosclerosis

P-Value

SNP ID p-value Traits Study
rs9648180.0000437alcoholismpha002893
rs9648180.000044alcohol dependence20201924
rs9648180.00025alcohol dependence(early age of onset)20201924

eQTL of rs964818 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 rs964818 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 )
chr2227135520227135575E0713740
chr2227136481227136574E0714701
chr2227137217227137341E0715437
chr2227137217227137341E0725437
chr2227137466227137690E0725686
chr2227137217227137341E0745437
chr2227137466227137690E0745686
chr2227159820227160820E08128040
chr2227164979227165207E08133199
chr2227165311227165452E08133531
chr2227165697227166211E08133917
chr2227176871227176911E08145091
chr2227177000227177137E08145220
chr2227177562227178192E08145782
chr2227099483227099572E082-32208
chr2227099617227099684E082-32096
chr2227099742227099862E082-31918
chr2227100042227100132E082-31648
chr2227159717227159772E08227937
chr2227164979227165207E08233199
chr2227165311227165452E08233531
chr2227177562227178192E08245782