rs10248609

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0112 (3372/29934,GnomAD)
T=0121 (3549/29118,TOPMED)
T=0167 (838/5008,1000G)
T=0051 (198/3854,ALSPAC)
T=0059 (217/3708,TWINSUK)
chr7:56194361 (GRCh38.p7) (7p11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.56194361C>T
GRCh37.p13 chr 7NC_000007.13:g.56262054C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.778T=0.222
1000GenomesAmericanSub694C=0.920T=0.080
1000GenomesEast AsianSub1008C=0.781T=0.219
1000GenomesEuropeSub1006C=0.938T=0.062
1000GenomesGlobalStudy-wide5008C=0.833T=0.167
1000GenomesSouth AsianSub978C=0.790T=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.949T=0.051
The Genome Aggregation DatabaseAfricanSub8706C=0.818T=0.182
The Genome Aggregation DatabaseAmericanSub836C=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1606C=0.770T=0.230
The Genome Aggregation DatabaseEuropeSub18484C=0.927T=0.072
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.887T=0.112
The Genome Aggregation DatabaseOtherSub302C=0.930T=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.878T=0.121
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.941T=0.059
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
rs102486090.00046alcohol dependence20201924

eQTL of rs10248609 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 rs10248609 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr75624269756243465E067-18589
chr75624357456243705E067-18349
chr75624269756243465E068-18589
chr75624357456243705E068-18349
chr75624269756243465E069-18589
chr75624357456243705E069-18349
chr75624232256242585E071-19469
chr75624269756243465E071-18589
chr75624357456243705E071-18349
chr75624232256242585E072-19469
chr75624269756243465E072-18589
chr75624357456243705E072-18349
chr75624232256242585E073-19469
chr75624269756243465E073-18589
chr75624357456243705E073-18349
chr75624269756243465E074-18589
chr75624357456243705E074-18349
chr75624269756243465E082-18589