rs4890712

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
C==0416 (12430/29878,GnomAD)
C==0462 (13478/29118,TOPMED)
C==0454 (2276/5008,1000G)
C==0354 (1363/3854,ALSPAC)
C==0346 (1282/3708,TWINSUK)
chr18:41323543 (GRCh38.p7) (18q12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.41323543C>A
GRCh37.p13 chr 18NC_000018.9:g.38903507C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.707A=0.293
1000GenomesAmericanSub694C=0.430A=0.570
1000GenomesEast AsianSub1008C=0.362A=0.638
1000GenomesEuropeSub1006C=0.316A=0.684
1000GenomesGlobalStudy-wide5008C=0.454A=0.546
1000GenomesSouth AsianSub978C=0.370A=0.630
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.354A=0.646
The Genome Aggregation DatabaseAfricanSub8694C=0.633A=0.367
The Genome Aggregation DatabaseAmericanSub834C=0.450A=0.550
The Genome Aggregation DatabaseEast AsianSub1610C=0.374A=0.626
The Genome Aggregation DatabaseEuropeSub18440C=0.318A=0.681
The Genome Aggregation DatabaseGlobalStudy-wide29878C=0.416A=0.584
The Genome Aggregation DatabaseOtherSub300C=0.290A=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.462A=0.537
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.346A=0.654
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
rs48907120.00048alcohol dependence24277619

eQTL of rs4890712 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 rs4890712 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 )
chr183895144338951631E06847936
chr183889116438891503E070-12004
chr183889151638892741E070-10766
chr183895064238951394E07047135
chr183892108638921163E08117579
chr183892126138921335E08117754
chr183895064238951394E08147135
chr183895144338951631E08147936
chr183895165938951819E08148152
chr183895064238951394E08247135