rs10414401

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0344 (10302/29894,GnomAD)
C==0297 (8655/29118,TOPMED)
C==0367 (1837/5008,1000G)
C==0373 (1438/3854,ALSPAC)
C==0383 (1420/3708,TWINSUK)
chr19:27921063 (GRCh38.p7) (19q11)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.27921063C>T
GRCh37.p13 chr 19NC_000019.9:g.28411971C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.191T=0.809
1000GenomesAmericanSub694C=0.420T=0.580
1000GenomesEast AsianSub1008C=0.546T=0.454
1000GenomesEuropeSub1006C=0.370T=0.630
1000GenomesGlobalStudy-wide5008C=0.367T=0.633
1000GenomesSouth AsianSub978C=0.380T=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.373T=0.627
The Genome Aggregation DatabaseAfricanSub8714C=0.219T=0.781
The Genome Aggregation DatabaseAmericanSub834C=0.450T=0.550
The Genome Aggregation DatabaseEast AsianSub1600C=0.575T=0.425
The Genome Aggregation DatabaseEuropeSub18444C=0.378T=0.621
The Genome Aggregation DatabaseGlobalStudy-wide29894C=0.344T=0.655
The Genome Aggregation DatabaseOtherSub302C=0.380T=0.620
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.297T=0.702
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.383T=0.617
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
rs104144010.000186alcohol consumption (maxi-drinks)24277619

eQTL of rs10414401 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:28411971CTC-459F4.6ENSG00000267264.1C>T1.9152e-8117525Cerebellum
Chr19:28411971AC022153.1ENSG00000267623.2C>T2.5001e-318468Cerebellar_Hemisphere

meQTL of rs10414401 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 )
chr192839590628395983E067-15988
chr192839623828396327E067-15644
chr192839660028397548E067-14423
chr192839590628395983E068-15988
chr192839623828396327E068-15644
chr192839660028397548E068-14423
chr192839660028397548E069-14423
chr192839590628395983E071-15988
chr192839623828396327E071-15644
chr192839660028397548E071-14423
chr192839623828396327E072-15644
chr192839660028397548E072-14423
chr192839623828396327E073-15644
chr192839623828396327E074-15644
chr192839660028397548E074-14423
chr192844632028446447E08134349
chr192844652228446797E08134551