rs878487

Homo sapiens
A>G
LOC284930 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0408 (12207/29916,GnomAD)
G=0488 (14235/29114,TOPMED)
G=0452 (2266/5008,1000G)
G=0287 (1107/3854,ALSPAC)
G=0282 (1045/3708,TWINSUK)
chr22:47781367 (GRCh38.p7) (22q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.47781367A>G
GRCh37.p13 chr 22NC_000022.10:g.48177116A>G

Gene: LOC284930, uncharacterized LOC284930(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC284930 transcriptNR_122046.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.210G=0.790
1000GenomesAmericanSub694A=0.720G=0.280
1000GenomesEast AsianSub1008A=0.608G=0.392
1000GenomesEuropeSub1006A=0.728G=0.272
1000GenomesGlobalStudy-wide5008A=0.548G=0.452
1000GenomesSouth AsianSub978A=0.630G=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.713G=0.287
The Genome Aggregation DatabaseAfricanSub8708A=0.290G=0.710
The Genome Aggregation DatabaseAmericanSub838A=0.750G=0.250
The Genome Aggregation DatabaseEast AsianSub1616A=0.603G=0.397
The Genome Aggregation DatabaseEuropeSub18452A=0.726G=0.273
The Genome Aggregation DatabaseGlobalStudy-wide29916A=0.592G=0.408
The Genome Aggregation DatabaseOtherSub302A=0.620G=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29114A=0.511G=0.488
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.718G=0.282
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
rs8784870.000319alcohol consumption (maxi-drinks)24277619

eQTL of rs878487 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 rs878487 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 )
chr224818428048184375E0707164
chr224818447848184701E0707362
chr224817737648177461E072260
chr224817737648177461E073260
chr224813501948135419E081-41697
chr224817688148177102E081-14
chr224817737648177461E081260
chr224820352648203593E08126410
chr224815115448151292E082-25824