rs2346471

Homo sapiens
A>G
LOC105370519 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0235 (7054/29932,GnomAD)
G=0251 (7317/29118,TOPMED)
G=0176 (883/5008,1000G)
G=0206 (795/3854,ALSPAC)
G=0208 (770/3708,TWINSUK)
chr14:57496259 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57496259A>G
GRCh37.p13 chr 14NC_000014.8:g.57962977A>G

Gene: LOC105370519, uncharacterized LOC105370519(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370519 transcriptXR_943909.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.670G=0.330
1000GenomesAmericanSub694A=0.820G=0.180
1000GenomesEast AsianSub1008A=0.971G=0.029
1000GenomesEuropeSub1006A=0.785G=0.215
1000GenomesGlobalStudy-wide5008A=0.824G=0.176
1000GenomesSouth AsianSub978A=0.920G=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.794G=0.206
The Genome Aggregation DatabaseAfricanSub8708A=0.678G=0.322
The Genome Aggregation DatabaseAmericanSub838A=0.810G=0.190
The Genome Aggregation DatabaseEast AsianSub1610A=0.970G=0.030
The Genome Aggregation DatabaseEuropeSub18474A=0.784G=0.215
The Genome Aggregation DatabaseGlobalStudy-wide29932A=0.764G=0.235
The Genome Aggregation DatabaseOtherSub302A=0.790G=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.748G=0.251
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.792G=0.208
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
rs23464710.000548alcohol consumption (maxi-drinks)24277619

eQTL of rs2346471 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 rs2346471 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 )
chr145795844357958722E068-4255
chr145795358157953827E070-9150
chr145795461257954781E070-8196
chr145795844357958722E074-4255