rs2082371

Homo sapiens
A>G
LOC105369955 : Intron Variant
LOC105369956 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0183 (5494/29966,GnomAD)
A==0186 (5416/29118,TOPMED)
A==0159 (797/5008,1000G)
A==0216 (833/3854,ALSPAC)
A==0224 (829/3708,TWINSUK)
chr12:105440189 (GRCh38.p7) (12q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
28 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.105440189A>G
GRCh37.p13 chr 12NC_000012.11:g.105833967A>G

Gene: LOC105369955, uncharacterized LOC105369955(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105369955 transcriptXR_945295.2:n.N/AIntron Variant

Gene: LOC105369956, uncharacterized LOC105369956(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105369956 transcriptXR_945297.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.124G=0.876
1000GenomesAmericanSub694A=0.160G=0.840
1000GenomesEast AsianSub1008A=0.085G=0.915
1000GenomesEuropeSub1006A=0.216G=0.784
1000GenomesGlobalStudy-wide5008A=0.159G=0.841
1000GenomesSouth AsianSub978A=0.220G=0.780
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.216G=0.784
The Genome Aggregation DatabaseAfricanSub8722A=0.152G=0.848
The Genome Aggregation DatabaseAmericanSub836A=0.170G=0.830
The Genome Aggregation DatabaseEast AsianSub1620A=0.100G=0.900
The Genome Aggregation DatabaseEuropeSub18486A=0.206G=0.793
The Genome Aggregation DatabaseGlobalStudy-wide29966A=0.183G=0.816
The Genome Aggregation DatabaseOtherSub302A=0.170G=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.186G=0.814
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.224G=0.776
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs20823710.00017alcohol dependence(early age of onset)20201924
rs20823710.00029alcohol dependence20201924

eQTL of rs2082371 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 rs2082371 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 )
chr12105802827105803041E068-30926
chr12105803167105804542E068-29425
chr12105802276105802326E069-31641
chr12105802563105802685E069-31282
chr12105802827105803041E070-30926
chr12105803167105804542E070-29425
chr12105871685105871951E07037718
chr12105802276105802326E071-31641
chr12105803167105804542E071-29425
chr12105861209105861277E07127242
chr12105802276105802326E074-31641
chr12105802563105802685E074-31282
chr12105802827105803041E074-30926
chr12105803167105804542E074-29425
chr12105802827105803041E081-30926
chr12105803167105804542E081-29425
chr12105804635105804693E081-29274
chr12105857977105858500E08124010
chr12105864183105864233E08130216
chr12105864371105864443E08130404
chr12105873830105873896E08139863
chr12105873929105874324E08139962
chr12105802827105803041E082-30926
chr12105803167105804542E082-29425
chr12105804635105804693E082-29274
chr12105804990105805044E082-28923
chr12105858536105858600E08224569
chr12105858674105858728E08224707