rs4804973

Homo sapiens
G>A
LOC105372347 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0320 (9573/29866,GnomAD)
A=0258 (7537/29118,TOPMED)
A=0340 (1704/5008,1000G)
A=0372 (1432/3854,ALSPAC)
A=0382 (1416/3708,TWINSUK)
chr19:27902048 (GRCh38.p7) (19q11)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.27902048G>A
GRCh37.p13 chr 19NC_000019.9:g.28392956G>A

Gene: LOC105372347, uncharacterized LOC105372347(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105372347 transcriptXR_001753886.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.898A=0.102
1000GenomesAmericanSub694G=0.580A=0.420
1000GenomesEast AsianSub1008G=0.451A=0.549
1000GenomesEuropeSub1006G=0.639A=0.361
1000GenomesGlobalStudy-wide5008G=0.660A=0.340
1000GenomesSouth AsianSub978G=0.630A=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.628A=0.372
The Genome Aggregation DatabaseAfricanSub8706G=0.860A=0.140
The Genome Aggregation DatabaseAmericanSub834G=0.580A=0.420
The Genome Aggregation DatabaseEast AsianSub1616G=0.416A=0.584
The Genome Aggregation DatabaseEuropeSub18408G=0.622A=0.377
The Genome Aggregation DatabaseGlobalStudy-wide29866G=0.679A=0.320
The Genome Aggregation DatabaseOtherSub302G=0.630A=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.741A=0.258
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.618A=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
rs48049730.000716alcohol consumption (maxi-drinks)24277619

eQTL of rs4804973 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:28392956CTC-459F4.6ENSG00000267264.1G>A1.9152e-898510Cerebellum
Chr19:28392956AC022153.1ENSG00000267623.2G>A2.5001e-3-547Cerebellar_Hemisphere

meQTL of rs4804973 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 )
chr192839590628395983E0672950
chr192839623828396327E0673282
chr192839660028397548E0673644
chr192839590628395983E0682950
chr192839623828396327E0683282
chr192839660028397548E0683644
chr192839660028397548E0693644
chr192839590628395983E0712950
chr192839623828396327E0713282
chr192839660028397548E0713644
chr192839623828396327E0723282
chr192839660028397548E0723644
chr192839623828396327E0733282
chr192839623828396327E0743282
chr192839660028397548E0743644