rs1344791

Homo sapiens
C>T
LOC105369878 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0028 (842/29950,GnomAD)
T=0026 (759/29118,TOPMED)
T=0028 (138/5008,1000G)
T=0038 (147/3854,ALSPAC)
T=0037 (139/3708,TWINSUK)
chr12:87070497 (GRCh38.p7) (12q21.32)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.87070497C>T

Gene: LOC105369878, uncharacterized LOC105369878(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105369878 transcript variant X2XR_001749241.1:n.N/AIntron Variant
LOC105369878 transcript variant X1XR_945158.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.974T=0.026
1000GenomesAmericanSub694C=0.990T=0.010
1000GenomesEast AsianSub1008C=0.984T=0.016
1000GenomesEuropeSub1006C=0.969T=0.031
1000GenomesGlobalStudy-wide5008C=0.972T=0.028
1000GenomesSouth AsianSub978C=0.950T=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.962T=0.038
The Genome Aggregation DatabaseAfricanSub8724C=0.967T=0.033
The Genome Aggregation DatabaseAmericanSub836C=0.980T=0.020
The Genome Aggregation DatabaseEast AsianSub1606C=0.989T=0.011
The Genome Aggregation DatabaseEuropeSub18482C=0.971T=0.028
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.971T=0.028
The Genome Aggregation DatabaseOtherSub302C=0.990T=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.973T=0.026
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.963T=0.037
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
rs13447913.4E-05alcoholism (heaviness of drinking)21529783

eQTL of rs1344791 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 rs1344791 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 )
chr123200641632006481E074-26526
chr123200650132006863E074-26144
chr123200688232006948E074-26059