rs4444469

Homo sapiens
C>A / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0343 (10287/29942,GnomAD)
T=0349 (10182/29118,TOPMED)
T=0316 (1583/5008,1000G)
T=0392 (1511/3854,ALSPAC)
T=0393 (1458/3708,TWINSUK)
chr2:235339472 (GRCh38.p7) (2q37.2)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.235339472C>A
GRCh38.p7 chr 2NC_000002.12:g.235339472C>T
GRCh37.p13 chr 2NC_000002.11:g.236248116C>A
GRCh37.p13 chr 2NC_000002.11:g.236248116C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.785T=0.215
1000GenomesAmericanSub694C=0.500T=0.500
1000GenomesEast AsianSub1008C=0.796T=0.204
1000GenomesEuropeSub1006C=0.621T=0.379
1000GenomesGlobalStudy-wide5008C=0.684T=0.316
1000GenomesSouth AsianSub978C=0.630T=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.608T=0.392
The Genome Aggregation DatabaseAfricanSub8720C=0.759T=0.241
The Genome Aggregation DatabaseAmericanSub836C=0.460T=0.54,
The Genome Aggregation DatabaseEast AsianSub1620C=0.783T=0.217
The Genome Aggregation DatabaseEuropeSub18464C=0.606T=0.393
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.656T=0.343
The Genome Aggregation DatabaseOtherSub302C=0.600T=0.40,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.650T=0.349
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.607T=0.393
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
rs44444690.000952alcohol dependence20201924

eQTL of rs4444469 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 rs4444469 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 )
chr25118450851184668E06840173
chr25118516951185324E06840834
chr25118516951185324E06940834
chr25114734051147390E0703005
chr25115682951157212E07012494
chr25117579451176069E07031459
chr25118227251182488E07037937
chr25118450851184668E07040173
chr25118516951185324E07040834
chr25115682951157212E07112494
chr25118410351184432E07139768
chr25118450851184668E07140173
chr25118516951185324E07140834
chr25118227251182488E07337937
chr25117667651177278E07432341
chr25118227251182488E07437937
chr25110282151102924E081-41411
chr25110458751104828E081-39507
chr25117103751171418E08126702
chr25113821951138284E082-6051
chr25116297051163099E08218635
chr25116333151163388E08218996