rs1469447

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0165 (4947/29964,GnomAD)
A=0122 (3553/29118,TOPMED)
A=0190 (950/5008,1000G)
A=0188 (725/3854,ALSPAC)
A=0184 (684/3708,TWINSUK)
chr5:121454833 (GRCh38.p7) (5q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.121454833C>A
GRCh37.p13 chr 5NC_000005.9:g.120790528C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.980A=0.020
1000GenomesAmericanSub694C=0.850A=0.150
1000GenomesEast AsianSub1008C=0.473A=0.527
1000GenomesEuropeSub1006C=0.818A=0.182
1000GenomesGlobalStudy-wide5008C=0.810A=0.190
1000GenomesSouth AsianSub978C=0.890A=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.812A=0.188
The Genome Aggregation DatabaseAfricanSub8726C=0.961A=0.039
The Genome Aggregation DatabaseAmericanSub834C=0.870A=0.130
The Genome Aggregation DatabaseEast AsianSub1616C=0.502A=0.498
The Genome Aggregation DatabaseEuropeSub18486C=0.803A=0.196
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.834A=0.165
The Genome Aggregation DatabaseOtherSub302C=0.820A=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.878A=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.816A=0.184
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
rs14694470.00086alcohol dependence20201924

eQTL of rs1469447 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 rs1469447 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 )
chr5120750901120751274E070-39254
chr5120751497120751556E070-38972
chr5120835961120836037E07045433
chr5120836114120836231E07045586
chr5120836251120836332E07045723