rs4464770

Homo sapiens
T>A / T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0326 (9741/29868,GnomAD)
C=0269 (7850/29118,TOPMED)
C=0294 (1471/5008,1000G)
C=0385 (1484/3854,ALSPAC)
C=0382 (1416/3708,TWINSUK)
chr6:65884589 (GRCh38.p7) (6q12)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.65884589T>A
GRCh38.p7 chr 6NC_000006.12:g.65884589T>C
GRCh37.p13 chr 6NC_000006.11:g.66594482T>A
GRCh37.p13 chr 6NC_000006.11:g.66594482T>C
GRCh38.p7 chr 6 alt locus HSCHR6_1_CTG7NT_187555.1:g.116364T>A
GRCh38.p7 chr 6 alt locus HSCHR6_1_CTG7NT_187555.1:g.116364T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.858C=0.142
1000GenomesAmericanSub694T=0.680C=0.320
1000GenomesEast AsianSub1008T=0.572C=0.428
1000GenomesEuropeSub1006T=0.655C=0.345
1000GenomesGlobalStudy-wide5008T=0.706C=0.294
1000GenomesSouth AsianSub978T=0.710C=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.615C=0.385
The Genome Aggregation DatabaseAfricanSub8716T=0.829A=0.000
The Genome Aggregation DatabaseAmericanSub830T=0.650A=0.00,
The Genome Aggregation DatabaseEast AsianSub1590T=0.569A=0.000
The Genome Aggregation DatabaseEuropeSub18430T=0.611A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29868T=0.673A=0.000
The Genome Aggregation DatabaseOtherSub302T=0.660A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.730C=0.269
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.618C=0.382
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
rs44647700.00066alcohol consumption (maxi-drinks)24277619

eQTL of rs4464770 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 rs4464770 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 )
chr6124694027124694273E08133088