rs2787985

Homo sapiens
T>G
LOC105378814 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0409 (12213/29808,GnomAD)
T==0467 (13613/29118,TOPMED)
T==0490 (2453/5008,1000G)
T==0331 (1274/3854,ALSPAC)
T==0342 (1267/3708,TWINSUK)
chr1:82652361 (GRCh38.p7) (1p31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.82652361T>G
GRCh37.p13 chr 1NC_000001.10:g.83118044T>G

Gene: LOC105378814, uncharacterized LOC105378814(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378814 transcript variant X2XR_947533.2:n.N/AIntron Variant
LOC105378814 transcript variant X1XR_947532.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.607G=0.393
1000GenomesAmericanSub694T=0.390G=0.610
1000GenomesEast AsianSub1008T=0.553G=0.447
1000GenomesEuropeSub1006T=0.383G=0.617
1000GenomesGlobalStudy-wide5008T=0.490G=0.510
1000GenomesSouth AsianSub978T=0.450G=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.331G=0.669
The Genome Aggregation DatabaseAfricanSub8698T=0.581G=0.419
The Genome Aggregation DatabaseAmericanSub832T=0.390G=0.610
The Genome Aggregation DatabaseEast AsianSub1586T=0.518G=0.482
The Genome Aggregation DatabaseEuropeSub18390T=0.320G=0.680
The Genome Aggregation DatabaseGlobalStudy-wide29808T=0.409G=0.590
The Genome Aggregation DatabaseOtherSub302T=0.440G=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.467G=0.532
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.342G=0.658
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs27879851.2E-05alcohol dependence21703634

eQTL of rs2787985 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 rs2787985 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 )
chr18307233483072540E070-45504
chr18307233483072540E081-45504