rs809164

Homo sapiens
T>A / T>C / T>G
LINC00348 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0091 (2755/29964,GnomAD)
T==0133 (3894/29116,TOPMED)
T==0114 (570/5008,1000G)
T==0045 (174/3854,ALSPAC)
T==0044 (165/3708,TWINSUK)
chr13:71055978 (GRCh38.p7) (13q21.33)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.71055978T>A
GRCh38.p7 chr 13NC_000013.11:g.71055978T>C
GRCh38.p7 chr 13NC_000013.11:g.71055978T>G
GRCh37.p13 chr 13NC_000013.10:g.71630110T>A
GRCh37.p13 chr 13NC_000013.10:g.71630110T>C
GRCh37.p13 chr 13NC_000013.10:g.71630110T>G

Gene: LINC00348, long intergenic non-protein coding RNA 348(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LINC00348 transcriptNR_047699.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.261C=0.739
1000GenomesAmericanSub694T=0.050C=0.950
1000GenomesEast AsianSub1008T=0.071C=0.929
1000GenomesEuropeSub1006T=0.064C=0.936
1000GenomesGlobalStudy-wide5008T=0.114C=0.886
1000GenomesSouth AsianSub978T=0.050C=0.950
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.045C=0.955
The Genome Aggregation DatabaseAfricanSub8720T=0.224C=0.776
The Genome Aggregation DatabaseAmericanSub838T=0.040C=0.960
The Genome Aggregation DatabaseEast AsianSub1618T=0.051C=0.949
The Genome Aggregation DatabaseEuropeSub18486T=0.034C=0.965
The Genome Aggregation DatabaseGlobalStudy-wide29964T=0.091C=0.908
The Genome Aggregation DatabaseOtherSub302T=0.140C=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.133C=0.866
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.044C=0.956
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
rs8091640.000836alcohol consumption (maxi-drinks)24277619

eQTL of rs809164 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 rs809164 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 )
chr138020477280204822E081-6427