rs1248820

Homo sapiens
T>C
LOC105377192 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0436 (13055/29888,GnomAD)
C=0450 (13130/29118,TOPMED)
C=0441 (2208/5008,1000G)
C=0351 (1352/3854,ALSPAC)
C=0347 (1288/3708,TWINSUK)
chr3:84882172 (GRCh38.p7) (3p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.84882172T>C
GRCh37.p13 chr 3NC_000003.11:g.84931323T>C

Gene: LOC105377192, uncharacterized LOC105377192(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377192 transcript variant X2XR_001740560.1:n.N/AIntron Variant
LOC105377192 transcript variant X1XR_941021.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.411C=0.589
1000GenomesAmericanSub694T=0.610C=0.390
1000GenomesEast AsianSub1008T=0.556C=0.444
1000GenomesEuropeSub1006T=0.654C=0.346
1000GenomesGlobalStudy-wide5008T=0.559C=0.441
1000GenomesSouth AsianSub978T=0.630C=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.649C=0.351
The Genome Aggregation DatabaseAfricanSub8710T=0.437C=0.563
The Genome Aggregation DatabaseAmericanSub832T=0.610C=0.390
The Genome Aggregation DatabaseEast AsianSub1612T=0.566C=0.434
The Genome Aggregation DatabaseEuropeSub18432T=0.619C=0.380
The Genome Aggregation DatabaseGlobalStudy-wide29888T=0.563C=0.436
The Genome Aggregation DatabaseOtherSub302T=0.620C=0.380
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.549C=0.450
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.653C=0.347
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs12488205.8E-05alcoholism (heaviness of drinking)21529783

eQTL of rs1248820 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 rs1248820 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.