rs971258

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0327 (9796/29886,GnomAD)
C==0369 (10752/29118,TOPMED)
C==0269 (1347/5008,1000G)
C==0294 (1132/3854,ALSPAC)
C==0291 (1078/3708,TWINSUK)
chr9:80114927 (GRCh38.p7) (9q21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.80114927C>T
GRCh37.p13 chr 9NC_000009.11:g.82729842C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.488T=0.512
1000GenomesAmericanSub694C=0.210T=0.790
1000GenomesEast AsianSub1008C=0.046T=0.954
1000GenomesEuropeSub1006C=0.286T=0.714
1000GenomesGlobalStudy-wide5008C=0.269T=0.731
1000GenomesSouth AsianSub978C=0.230T=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.294T=0.706
The Genome Aggregation DatabaseAfricanSub8680C=0.472T=0.528
The Genome Aggregation DatabaseAmericanSub834C=0.210T=0.790
The Genome Aggregation DatabaseEast AsianSub1618C=0.043T=0.957
The Genome Aggregation DatabaseEuropeSub18452C=0.290T=0.709
The Genome Aggregation DatabaseGlobalStudy-wide29886C=0.327T=0.672
The Genome Aggregation DatabaseOtherSub302C=0.340T=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.369T=0.630
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.291T=0.709
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs9712586E-05alcoholism (heaviness of drinking)21529783

eQTL of rs971258 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 rs971258 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 )
chr98277356582774172E06843723
chr98277177482773115E07041932
chr98277316182773374E07043319
chr98277338882773483E07043546
chr98277356582774172E07043723
chr98277177482773115E08241932
chr98277316182773374E08243319
chr98277338882773483E08243546
chr98277356582774172E08243723