rs6554603

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0248 (7440/29942,GnomAD)
T==0252 (7358/29118,TOPMED)
T==0412 (2065/5008,1000G)
T==0189 (729/3854,ALSPAC)
T==0187 (694/3708,TWINSUK)
chr5:10819173 (GRCh38.p7) (5p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
28 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.10819173T>C
GRCh37.p13 chr 5NC_000005.9:g.10819285T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.241C=0.759
1000GenomesAmericanSub694T=0.330C=0.670
1000GenomesEast AsianSub1008T=0.850C=0.150
1000GenomesEuropeSub1006T=0.204C=0.796
1000GenomesGlobalStudy-wide5008T=0.412C=0.588
1000GenomesSouth AsianSub978T=0.470C=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.189C=0.811
The Genome Aggregation DatabaseAfricanSub8704T=0.245C=0.755
The Genome Aggregation DatabaseAmericanSub836T=0.390C=0.610
The Genome Aggregation DatabaseEast AsianSub1614T=0.889C=0.111
The Genome Aggregation DatabaseEuropeSub18486T=0.188C=0.811
The Genome Aggregation DatabaseGlobalStudy-wide29942T=0.248C=0.751
The Genome Aggregation DatabaseOtherSub302T=0.220C=0.780
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.252C=0.747
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.187C=0.813
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
rs65546033.2E-06alcohol consumption (maxi-drinks)24277619

eQTL of rs6554603 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 rs6554603 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 )
chr51085655910856641E06737274
chr51085793610858018E06738651
chr51078862110788704E068-30581
chr51078894110789641E068-29644
chr51085655910856641E06837274
chr51078862110788704E069-30581
chr51078894110789641E069-29644
chr51085655910856641E06937274
chr51085793610858018E06938651
chr51085675010857883E07037465
chr51078862110788704E071-30581
chr51085471210854914E07135427
chr51085502310855269E07135738
chr51078862110788704E072-30581
chr51078894110789641E072-29644
chr51085655910856641E07237274
chr51085655910856641E07337274
chr51085793610858018E07338651
chr51078894110789641E074-29644
chr51085655910856641E07437274
chr51085675010857883E07437465
chr51085655910856641E08137274
chr51085675010857883E08137465
chr51085793610858018E08138651
chr51085846610858516E08139181
chr51085858410858654E08139299
chr51085675010857883E08237465
chr51085793610858018E08238651