rs499468

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0343 (10293/29942,GnomAD)
C==0259 (7553/29118,TOPMED)
C==0269 (1345/5008,1000G)
C==0448 (1726/3854,ALSPAC)
C==0447 (1657/3708,TWINSUK)
chr18:24519685 (GRCh38.p7) (18q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.24519685C>T
GRCh37.p13 chr 18NC_000018.9:g.22099649C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.042T=0.958
1000GenomesAmericanSub694C=0.280T=0.720
1000GenomesEast AsianSub1008C=0.299T=0.701
1000GenomesEuropeSub1006C=0.435T=0.565
1000GenomesGlobalStudy-wide5008C=0.269T=0.731
1000GenomesSouth AsianSub978C=0.370T=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.448T=0.552
The Genome Aggregation DatabaseAfricanSub8726C=0.104T=0.896
The Genome Aggregation DatabaseAmericanSub836C=0.230T=0.770
The Genome Aggregation DatabaseEast AsianSub1616C=0.256T=0.744
The Genome Aggregation DatabaseEuropeSub18462C=0.469T=0.530
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.343T=0.656
The Genome Aggregation DatabaseOtherSub302C=0.380T=0.620
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.259T=0.740
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.447T=0.553
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
rs4994680.000171alcohol consumption (maxi-drinks)24277619

eQTL of rs499468 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 rs499468 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 )
chr182207671022077550E067-22099
chr182209536322095413E067-4236
chr182208267222082919E069-16730
chr182213940122139834E07039752
chr182213999622140046E07040347
chr182207671022077550E071-22099
chr182207671022077550E072-22099
chr182207777022077820E072-21829
chr182207873122078783E072-20866
chr182208568222086004E072-13645
chr182208633122086433E072-13216
chr182206767122068135E073-31514
chr182206814022068320E073-31329
chr182207671022077550E073-22099
chr182207777022077820E073-21829
chr182212025322120484E07320604
chr182212051422120594E07320865
chr182212073922120779E07321090
chr182206767122068135E074-31514
chr182206814022068320E074-31329
chr182206871222069357E074-30292
chr182206767122068135E081-31514
chr182206814022068320E081-31329