rs2827312

Homo sapiens
G>T
LOC107985508 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0338 (10133/29914,GnomAD)
T=0371 (10823/29118,TOPMED)
T=0310 (1551/5008,1000G)
T=0372 (1432/3854,ALSPAC)
T=0380 (1409/3708,TWINSUK)
chr21:22259356 (GRCh38.p7) (21q21.1)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.22259356G>T
GRCh37.p13 chr 21NC_000021.8:g.23631676G>T
GRCh38.p7 chr 21 alt locus HSCHR21_2_CTG1_1NW_003315968.2:g.163585G>T
GRCh37.p13 chr 21 novel patch HSCHR21_2_CTG1_1NW_003315968.1:g.163586G>T

Gene: LOC107985508, uncharacterized LOC107985508(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107985508 transcriptXR_001754978.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.618T=0.382
1000GenomesAmericanSub694G=0.600T=0.400
1000GenomesEast AsianSub1008G=0.923T=0.077
1000GenomesEuropeSub1006G=0.612T=0.388
1000GenomesGlobalStudy-wide5008G=0.690T=0.310
1000GenomesSouth AsianSub978G=0.690T=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.628T=0.372
The Genome Aggregation DatabaseAfricanSub8694G=0.643T=0.357
The Genome Aggregation DatabaseAmericanSub836G=0.640T=0.360
The Genome Aggregation DatabaseEast AsianSub1620G=0.917T=0.083
The Genome Aggregation DatabaseEuropeSub18462G=0.650T=0.349
The Genome Aggregation DatabaseGlobalStudy-wide29914G=0.661T=0.338
The Genome Aggregation DatabaseOtherSub302G=0.520T=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.628T=0.371
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.620T=0.380
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
rs28273120.000008alcoholism (heaviness of drinking)21529783
rs28273128.00E-06alcohol dependence21529783

eQTL of rs2827312 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 rs2827312 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.