rs7171368

Homo sapiens
T>C
LOC105369212 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0303 (9078/29928,GnomAD)
T==0327 (9526/29118,TOPMED)
T==0299 (1498/5008,1000G)
T==0331 (1275/3854,ALSPAC)
T==0326 (1207/3708,TWINSUK)
chr15:96094214 (GRCh38.p7) (15q26.2)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.96094214T>C
GRCh37.p13 chr 15NC_000015.9:g.96637443T>C

Gene: LOC105369212, uncharacterized LOC105369212(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105369212 transcript variant X2XR_001751686.1:n.N/AIntron Variant
LOC105369212 transcript variant X1XR_932659.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.282C=0.718
1000GenomesAmericanSub694T=0.290C=0.710
1000GenomesEast AsianSub1008T=0.142C=0.858
1000GenomesEuropeSub1006T=0.349C=0.651
1000GenomesGlobalStudy-wide5008T=0.299C=0.701
1000GenomesSouth AsianSub978T=0.440C=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.331C=0.669
The Genome Aggregation DatabaseAfricanSub8702T=0.306C=0.694
The Genome Aggregation DatabaseAmericanSub838T=0.250C=0.750
The Genome Aggregation DatabaseEast AsianSub1616T=0.140C=0.860
The Genome Aggregation DatabaseEuropeSub18470T=0.316C=0.683
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.303C=0.696
The Genome Aggregation DatabaseOtherSub302T=0.430C=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.327C=0.672
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.326C=0.674
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
rs71713680.000772alcohol dependence24277619

eQTL of rs7171368 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 rs7171368 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 )
chr159663035296631219E070-6224
chr159663123896631385E070-6058
chr159663148996631591E070-5852
chr159663181496631889E070-5554
chr159663191296632143E070-5300
chr159663216396632358E070-5085
chr159663242696632568E070-4875
chr159663260696632712E070-4731
chr159663287896633160E070-4283
chr159659779496597860E081-39583
chr159661348796613766E081-23677
chr159661385896614241E081-23202
chr159661426296614346E081-23097
chr159661440896614595E081-22848
chr159661471096614760E081-22683
chr159663123896631385E081-6058