rs5027023

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0235 (7026/29840,GnomAD)
A=0230 (6697/29118,TOPMED)
A=0233 (1167/5008,1000G)
A=0267 (1030/3854,ALSPAC)
A=0280 (1037/3708,TWINSUK)
chr4:156168453 (GRCh38.p7) (4q32.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.156168453C>A
GRCh37.p13 chr 4NC_000004.11:g.157089605C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.865A=0.135
1000GenomesAmericanSub694C=0.770A=0.230
1000GenomesEast AsianSub1008C=0.740A=0.260
1000GenomesEuropeSub1006C=0.744A=0.256
1000GenomesGlobalStudy-wide5008C=0.767A=0.233
1000GenomesSouth AsianSub978C=0.690A=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.733A=0.267
The Genome Aggregation DatabaseAfricanSub8692C=0.813A=0.187
The Genome Aggregation DatabaseAmericanSub834C=0.750A=0.250
The Genome Aggregation DatabaseEast AsianSub1608C=0.736A=0.264
The Genome Aggregation DatabaseEuropeSub18404C=0.745A=0.254
The Genome Aggregation DatabaseGlobalStudy-wide29840C=0.764A=0.235
The Genome Aggregation DatabaseOtherSub302C=0.740A=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.770A=0.230
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.720A=0.280
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
rs50270230.000818alcohol dependence24277619

eQTL of rs5027023 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 rs5027023 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 )
chr4157090976157091130E0691371
chr4157098218157098318E0708613
chr4157114364157114571E07024759
chr4157114770157114912E07025165
chr4157115062157115249E07025457
chr4157116210157116294E07026605
chr4157114364157114571E08124759
chr4157114770157114912E08125165
chr4157115062157115249E08125457
chr4157114770157114912E08225165
chr4157115062157115249E08225457