rs2333191

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0131 (3918/29886,GnomAD)
G=0150 (4368/29118,TOPMED)
G=0234 (1172/5008,1000G)
G=0036 (140/3854,ALSPAC)
G=0048 (177/3708,TWINSUK)
chr14:27889693 (GRCh38.p7) (14q12)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.27889693A>G
GRCh37.p13 chr 14NC_000014.8:g.28358899A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.711G=0.289
1000GenomesAmericanSub694A=0.930G=0.070
1000GenomesEast AsianSub1008A=0.649G=0.351
1000GenomesEuropeSub1006A=0.952G=0.048
1000GenomesGlobalStudy-wide5008A=0.766G=0.234
1000GenomesSouth AsianSub978A=0.650G=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.964G=0.036
The Genome Aggregation DatabaseAfricanSub8706A=0.750G=0.250
The Genome Aggregation DatabaseAmericanSub830A=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1590A=0.680G=0.320
The Genome Aggregation DatabaseEuropeSub18458A=0.938G=0.061
The Genome Aggregation DatabaseGlobalStudy-wide29886A=0.868G=0.131
The Genome Aggregation DatabaseOtherSub302A=0.900G=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.850G=0.150
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.952G=0.048
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
rs23331911.3E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs2333191 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 rs2333191 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 )
chr142838497728385285E06726078
chr142835516928355234E081-3665
chr142835543428355743E081-3156
chr142838497728385285E08126078
chr142838551028385870E08126611
chr142838593428385988E08127035