rs10253872

Homo sapiens
C>T
LOC105375153 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0287 (8560/29830,GnomAD)
C==0279 (8150/29118,TOPMED)
C==0399 (1997/5008,1000G)
C==0280 (1079/3854,ALSPAC)
C==0258 (957/3708,TWINSUK)
chr7:11282266 (GRCh38.p7) (7p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.11282266C>T
GRCh37.p13 chr 7NC_000007.13:g.11321893C>T

Gene: LOC105375153, uncharacterized LOC105375153(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105375153 transcript variant X1XR_001744902.1:n.N/AIntron Variant
LOC105375153 transcript variant X2XR_001744903.1:n.N/AGenic Upstream Transcript Variant
LOC105375153 transcript variant X3XR_927034.2:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.214T=0.786
1000GenomesAmericanSub694C=0.460T=0.540
1000GenomesEast AsianSub1008C=0.608T=0.392
1000GenomesEuropeSub1006C=0.267T=0.733
1000GenomesGlobalStudy-wide5008C=0.399T=0.601
1000GenomesSouth AsianSub978C=0.520T=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.280T=0.720
The Genome Aggregation DatabaseAfricanSub8712C=0.230T=0.770
The Genome Aggregation DatabaseAmericanSub834C=0.470T=0.530
The Genome Aggregation DatabaseEast AsianSub1544C=0.653T=0.347
The Genome Aggregation DatabaseEuropeSub18438C=0.275T=0.724
The Genome Aggregation DatabaseGlobalStudy-wide29830C=0.287T=0.713
The Genome Aggregation DatabaseOtherSub302C=0.230T=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.279T=0.720
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.258T=0.742
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
rs102538720.000765alcohol dependence24277619

eQTL of rs10253872 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 rs10253872 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 )
chr71127632211276834E070-45059
chr71127726411277322E070-44571

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr71127744311277788E068-44105