rs12086324

Homo sapiens
C>T
LOC105378786 : Non Coding Transcript Variant
LOC105378787 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0061 (1849/29938,GnomAD)
T=0081 (2362/29118,TOPMED)
T=0098 (493/5008,1000G)
T=0013 (50/3854,ALSPAC)
T=0012 (44/3708,TWINSUK)
chr1:69215507 (GRCh38.p7) (1p31.2)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.69215507C>T
GRCh37.p13 chr 1NC_000001.10:g.69681190C>T

Gene: LOC105378786, uncharacterized LOC105378786(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378786 transcript variant X2XR_001738105.1:n....XR_001738105.1:n.873G>AG>ANon Coding Transcript Variant
LOC105378786 transcript variant X2XR_947483.2:n.805G>AG>ANon Coding Transcript Variant

Gene: LOC105378787, uncharacterized LOC105378787(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378787 transcriptXR_947486.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.824T=0.176
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=0.863T=0.137
1000GenomesEuropeSub1006C=0.973T=0.027
1000GenomesGlobalStudy-wide5008C=0.902T=0.098
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.987T=0.013
The Genome Aggregation DatabaseAfricanSub8708C=0.856T=0.144
The Genome Aggregation DatabaseAmericanSub838C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1608C=0.863T=0.137
The Genome Aggregation DatabaseEuropeSub18482C=0.980T=0.019
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.938T=0.061
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.918T=0.081
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.988T=0.012
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
rs120863240.000104alcohol dependence24277619

eQTL of rs12086324 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 rs12086324 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 )
chr16971192069712024E07030730
chr16972844969728547E07047259
chr16972862469728845E07047434
chr16972945369730214E07048263
chr16966029469660383E081-20807
chr16971091069711078E08129720
chr16971132269711448E08130132
chr16971192069712024E08130730
chr16971484569714969E08133655
chr16972945369730214E08148263
chr16965640269656745E082-24445
chr16965699869657434E082-23756
chr16966029469660383E082-20807
chr16966094569661169E082-20021
chr16970984569710174E08228655
chr16971132269711448E08230132
chr16971192069712024E08230730
chr16971303269713318E08231842
chr16971437769714431E08233187
chr16972945369730214E08248263