rs7004631

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
G==0250 (7500/29910,GnomAD)
G==0249 (7249/29118,TOPMED)
G==0295 (1475/5008,1000G)
G==0273 (1054/3854,ALSPAC)
G==0258 (957/3708,TWINSUK)
chr8:57704061 (GRCh38.p7) (8q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
43 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.57704061G>A
GRCh37.p13 chr 8NC_000008.10:g.58616620G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.207A=0.793
1000GenomesAmericanSub694G=0.280A=0.720
1000GenomesEast AsianSub1008G=0.375A=0.625
1000GenomesEuropeSub1006G=0.256A=0.744
1000GenomesGlobalStudy-wide5008G=0.295A=0.705
1000GenomesSouth AsianSub978G=0.380A=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.273A=0.727
The Genome Aggregation DatabaseAfricanSub8692G=0.232A=0.768
The Genome Aggregation DatabaseAmericanSub836G=0.300A=0.700
The Genome Aggregation DatabaseEast AsianSub1618G=0.405A=0.595
The Genome Aggregation DatabaseEuropeSub18462G=0.243A=0.756
The Genome Aggregation DatabaseGlobalStudy-wide29910G=0.250A=0.749
The Genome Aggregation DatabaseOtherSub302G=0.260A=0.740
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.249A=0.751
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.258A=0.742
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs70046310.000382alcohol dependence24277619

eQTL of rs7004631 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 rs7004631 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 )
chr85866151758661588E06744897
chr85866151758661588E06844897
chr85866164358661853E06845023
chr85861790458617957E0691284
chr85861799258618103E0691372
chr85861815758618709E0691537
chr85866151758661588E06944897
chr85866164358661853E06945023
chr85861440258616297E070-323
chr85861440258616297E071-323
chr85861637358616423E071-197
chr85861790458617957E0711284
chr85861799258618103E0711372
chr85861815758618709E0711537
chr85866151758661588E07344897
chr85866164358661853E07345023
chr85861440258616297E074-323
chr85866164358661853E07445023
chr85858925558589435E081-27185
chr85860635758606674E081-9946
chr85861418858614334E081-2286
chr85861440258616297E081-323
chr85861760358617770E081983
chr85861790458617957E0811284
chr85861799258618103E0811372
chr85861815758618709E0811537
chr85861879958619021E0812179
chr85862364158623748E0817021
chr85862382758624008E0817207
chr85862406458624168E0817444
chr85863465158635215E08118031
chr85866151758661588E08144897
chr85866164358661853E08145023
chr85866347258664136E08146852
chr85861440258616297E082-323
chr85861790458617957E0821284
chr85861799258618103E0821372
chr85861815758618709E0821537
chr85861879958619021E0822179
chr85862406458624168E0827444
chr85862470258624762E0828082
chr85866151758661588E08244897
chr85866164358661853E08245023









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr85866041458661442E06743794
chr85866041458661442E06843794
chr85866041458661442E06943794
chr85865785358658385E07141233
chr85866041458661442E07143794
chr85866041458661442E07243794
chr85866041458661442E07343794
chr85866041458661442E07443794