rs2448709

Homo sapiens
G>T
LOC643542 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0151 (4532/29960,GnomAD)
T=0197 (5748/29118,TOPMED)
T=0172 (862/5008,1000G)
T=0104 (399/3854,ALSPAC)
T=0100 (369/3708,TWINSUK)
chr18:67651299 (GRCh38.p7) (18q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.67651299G>T
GRCh37.p13 chr 18NC_000018.9:g.65318536G>T

Gene: LOC643542, uncharacterized LOC643542(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC643542 transcriptNR_033921.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.669T=0.331
1000GenomesAmericanSub694G=0.910T=0.090
1000GenomesEast AsianSub1008G=0.889T=0.111
1000GenomesEuropeSub1006G=0.898T=0.102
1000GenomesGlobalStudy-wide5008G=0.828T=0.172
1000GenomesSouth AsianSub978G=0.850T=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.896T=0.104
The Genome Aggregation DatabaseAfricanSub8716G=0.686T=0.314
The Genome Aggregation DatabaseAmericanSub838G=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1606G=0.896T=0.104
The Genome Aggregation DatabaseEuropeSub18498G=0.917T=0.083
The Genome Aggregation DatabaseGlobalStudy-wide29960G=0.848T=0.151
The Genome Aggregation DatabaseOtherSub302G=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.802T=0.197
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.900T=0.100
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
rs24487090.000773alcohol dependence20201924

eQTL of rs2448709 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 rs2448709 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 )
chr186531953365319995E068997
chr186531953365319995E070997
chr186531953365319995E071997
chr186531953365319995E074997
chr186530122865301299E081-17237
chr186530133865301429E081-17107
chr186530161365301725E081-16811
chr186530178465301898E081-16638
chr186533710665337793E08118570