rs4844438

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0016 (490/29984,GnomAD)
G=0015 (437/29116,TOPMED)
G=0069 (345/5008,1000G)
G=0003 (13/3854,ALSPAC)
G=0002 (9/3708,TWINSUK)
chr1:208741511 (GRCh38.p7) (1q32.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.208741511A>G
GRCh37.p13 chr 1NC_000001.10:g.208914856A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.999G=0.001
1000GenomesAmericanSub694A=0.940G=0.060
1000GenomesEast AsianSub1008A=0.810G=0.190
1000GenomesEuropeSub1006A=0.998G=0.002
1000GenomesGlobalStudy-wide5008A=0.931G=0.069
1000GenomesSouth AsianSub978A=0.890G=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.997G=0.003
The Genome Aggregation DatabaseAfricanSub8728A=0.998G=0.002
The Genome Aggregation DatabaseAmericanSub838A=0.930G=0.070
The Genome Aggregation DatabaseEast AsianSub1612A=0.795G=0.205
The Genome Aggregation DatabaseEuropeSub18504A=0.995G=0.004
The Genome Aggregation DatabaseGlobalStudy-wide29984A=0.983G=0.016
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.985G=0.015
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.998G=0.002
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs48444380.00092alcohol dependence24277619

eQTL of rs4844438 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 rs4844438 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 )
chr1208905453208906282E070-8574
chr1208940264208940406E07025408
chr1208943847208943930E07028991
chr1208943952208944052E07029096
chr1208944146208944351E07029290
chr1208954921208955077E07040065
chr1208955112208955280E07040256
chr1208955289208955690E07040433
chr1208955714208955808E07040858
chr1208956122208956213E07041266
chr1208960719208960861E07045863
chr1208961387208961806E07046531
chr1208961850208962043E07046994
chr1208962101208962151E07047245
chr1208905453208906282E081-8574
chr1208910539208910956E081-3900
chr1208921092208921168E0816236
chr1208921906208922565E0817050
chr1208954921208955077E08140065
chr1208955112208955280E08140256
chr1208955714208955808E08140858
chr1208960719208960861E08145863
chr1208961387208961806E08146531
chr1208961850208962043E08146994
chr1208962101208962151E08147245
chr1208960719208960861E08245863
chr1208961387208961806E08246531
chr1208961850208962043E08246994
chr1208962101208962151E08247245
chr1208964262208964330E08249406