rs978230

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0466 (13921/29852,GnomAD)
C==0470 (13686/29118,TOPMED)
C==0463 (2319/5008,1000G)
T=0484 (1866/3854,ALSPAC)
T=0481 (1783/3708,TWINSUK)
chr4:166500964 (GRCh38.p7) (4q32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.166500964C>T
GRCh37.p13 chr 4NC_000004.11:g.167422116C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.477T=0.523
1000GenomesAmericanSub694C=0.300T=0.700
1000GenomesEast AsianSub1008C=0.333T=0.667
1000GenomesEuropeSub1006C=0.535T=0.465
1000GenomesGlobalStudy-wide5008C=0.463T=0.537
1000GenomesSouth AsianSub978C=0.620T=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.516T=0.484
The Genome Aggregation DatabaseAfricanSub8692C=0.463T=0.537
The Genome Aggregation DatabaseAmericanSub836C=0.280T=0.720
The Genome Aggregation DatabaseEast AsianSub1614C=0.315T=0.685
The Genome Aggregation DatabaseEuropeSub18410C=0.490T=0.510
The Genome Aggregation DatabaseGlobalStudy-wide29852C=0.466T=0.533
The Genome Aggregation DatabaseOtherSub300C=0.450T=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.470T=0.530
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.519T=0.481
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
rs9782300.000878alcohol dependence24277619

eQTL of rs978230 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 rs978230 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 )
chr4167440180167440247E07018064
chr4167419615167420081E071-2035
chr4167419300167419409E081-2707