rs4398608

Homo sapiens
G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0366 (10919/29796,GnomAD)
T=0349 (10169/29118,TOPMED)
T=0275 (1378/5008,1000G)
T=0426 (1642/3854,ALSPAC)
T=0441 (1636/3708,TWINSUK)
chr5:10847858 (GRCh38.p7) (5p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.10847858G>T
GRCh37.p13 chr 5NC_000005.9:g.10847970G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.693T=0.307
1000GenomesAmericanSub694G=0.650T=0.350
1000GenomesEast AsianSub1008G=0.955T=0.045
1000GenomesEuropeSub1006G=0.587T=0.413
1000GenomesGlobalStudy-wide5008G=0.725T=0.275
1000GenomesSouth AsianSub978G=0.720T=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.574T=0.426
The Genome Aggregation DatabaseAfricanSub8698G=0.680T=0.320
The Genome Aggregation DatabaseAmericanSub830G=0.680T=0.320
The Genome Aggregation DatabaseEast AsianSub1620G=0.956T=0.044
The Genome Aggregation DatabaseEuropeSub18346G=0.582T=0.417
The Genome Aggregation DatabaseGlobalStudy-wide29796G=0.633T=0.366
The Genome Aggregation DatabaseOtherSub302G=0.540T=0.460
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.650T=0.349
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.559T=0.441
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
rs43986080.000125alcohol consumption (maxi-drinks)24277619

eQTL of rs4398608 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 rs4398608 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 )
chr51085655910856641E0678589
chr51085793610858018E0679966
chr51085655910856641E0688589
chr51085655910856641E0698589
chr51085793610858018E0699966
chr51085675010857883E0708780
chr51085471210854914E0716742
chr51085502310855269E0717053
chr51085655910856641E0728589
chr51085655910856641E0738589
chr51085793610858018E0739966
chr51085655910856641E0748589
chr51085675010857883E0748780
chr51085655910856641E0818589
chr51085675010857883E0818780
chr51085793610858018E0819966
chr51085846610858516E08110496
chr51085858410858654E08110614
chr51087047510870629E08122505
chr51087081510871339E08122845
chr51085675010857883E0828780
chr51085793610858018E0829966
chr51087047510870629E08222505