rs670603

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0411 (12295/29890,GnomAD)
C==0458 (13359/29118,TOPMED)
T=0476 (2385/5008,1000G)
C==0336 (1296/3854,ALSPAC)
C==0322 (1195/3708,TWINSUK)
chr8:36301253 (GRCh38.p7) (8p12)
AD
GWASdb2
2   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.36301253C>T
GRCh37.p13 chr 8NC_000008.10:g.36158771C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.633T=0.367
1000GenomesAmericanSub694C=0.490T=0.510
1000GenomesEast AsianSub1008C=0.645T=0.355
1000GenomesEuropeSub1006C=0.287T=0.713
1000GenomesGlobalStudy-wide5008C=0.524T=0.476
1000GenomesSouth AsianSub978C=0.520T=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.336T=0.664
The Genome Aggregation DatabaseAfricanSub8696C=0.594T=0.406
The Genome Aggregation DatabaseAmericanSub832C=0.520T=0.480
The Genome Aggregation DatabaseEast AsianSub1604C=0.660T=0.340
The Genome Aggregation DatabaseEuropeSub18456C=0.300T=0.699
The Genome Aggregation DatabaseGlobalStudy-wide29890C=0.411T=0.588
The Genome Aggregation DatabaseOtherSub302C=0.330T=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.458T=0.541
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.322T=0.678
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
16400611Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.Suarez BKAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs6706030.000148alcohol dependence20201924

eQTL of rs670603 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 rs670603 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 )
chr83620351836204060E07044747