rs2912091

Homo sapiens
C>A / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0257 (7710/29918,GnomAD)
T=0305 (8897/29118,TOPMED)
T=0338 (1695/5008,1000G)
T=0140 (541/3854,ALSPAC)
T=0140 (518/3708,TWINSUK)
chr8:6776693 (GRCh38.p7) (8p23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.6776693C>A
GRCh38.p7 chr 8NC_000008.11:g.6776693C>T
GRCh37.p13 chr 8NC_000008.10:g.6634214C>A
GRCh37.p13 chr 8NC_000008.10:g.6634214C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.424T=0.576
1000GenomesAmericanSub694C=0.770T=0.230
1000GenomesEast AsianSub1008C=0.719T=0.281
1000GenomesEuropeSub1006C=0.847T=0.153
1000GenomesGlobalStudy-wide5008C=0.662T=0.338
1000GenomesSouth AsianSub978C=0.660T=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.860T=0.140
The Genome Aggregation DatabaseAfricanSub8694C=0.501T=0.499
The Genome Aggregation DatabaseAmericanSub838C=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1614C=0.716T=0.284
The Genome Aggregation DatabaseEuropeSub18472C=0.855T=0.144
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.742T=0.257
The Genome Aggregation DatabaseOtherSub300C=0.810T=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.694T=0.305
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.860T=0.140
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
rs29120910.0000387alcoholismpha002893
rs29120910.000039alcohol dependence20201924
rs29120910.00014alcohol dependence(early age of onset)20201924

eQTL of rs2912091 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 rs2912091 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.