rs1482350

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0228 (6840/29882,GnomAD)
C==0209 (1049/5008,1000G)
C==0248 (957/3854,ALSPAC)
C==0239 (887/3708,TWINSUK)
chr5:113833723 (GRCh38.p7) (5q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.113833723C>T
GRCh37.p13 chr 5NC_000005.9:g.113169420C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.181T=0.819
1000GenomesAmericanSub694C=0.220T=0.780
1000GenomesEast AsianSub1008C=0.202T=0.798
1000GenomesEuropeSub1006C=0.250T=0.750
1000GenomesGlobalStudy-wide5008C=0.209T=0.791
1000GenomesSouth AsianSub978C=0.200T=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.248T=0.752
The Genome Aggregation DatabaseAfricanSub8708C=0.196T=0.804
The Genome Aggregation DatabaseAmericanSub832C=0.180T=0.820
The Genome Aggregation DatabaseEast AsianSub1618C=0.232T=0.768
The Genome Aggregation DatabaseEuropeSub18422C=0.246T=0.753
The Genome Aggregation DatabaseGlobalStudy-wide29882C=0.228T=0.771
The Genome Aggregation DatabaseOtherSub302C=0.200T=0.800
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.239T=0.761
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
rs14823500.000947alcohol dependence20201924

eQTL of rs1482350 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 rs1482350 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 )
chr5113142615113142984E067-26436
chr5113142997113144136E067-25284
chr5113141967113142610E068-26810
chr5113141967113142610E069-26810
chr5113141967113142610E070-26810
chr5113142615113142984E070-26436
chr5113142997113144136E070-25284
chr5113144184113144245E070-25175
chr5113209970113210066E07040550
chr5113210836113211101E07041416
chr5113141967113142610E072-26810
chr5113142997113144136E072-25284
chr5113141967113142610E073-26810
chr5113142615113142984E073-26436
chr5113141967113142610E074-26810
chr5113142615113142984E074-26436
chr5113124550113124738E081-44682
chr5113141967113142610E081-26810
chr5113142615113142984E081-26436
chr5113142997113144136E081-25284
chr5113144184113144245E081-25175
chr5113144398113144669E081-24751
chr5113210836113211101E08141416
chr5113130675113131057E082-38363
chr5113141967113142610E082-26810
chr5113144184113144245E082-25175
chr5113144398113144669E082-24751
chr5113209970113210066E08240550
chr5113210836113211101E08241416