rs6138298

Homo sapiens
C>A / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
A=0294 (8814/29930,GnomAD)
A=0217 (6345/29118,TOPMED)
A=0260 (1304/5008,1000G)
A=0357 (1375/3854,ALSPAC)
A=0368 (1364/3708,TWINSUK)
chr20:24447649 (GRCh38.p7) (20p11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.24447649C>A
GRCh38.p7 chr 20NC_000020.11:g.24447649C>T
GRCh37.p13 chr 20NC_000020.10:g.24428285C>A
GRCh37.p13 chr 20NC_000020.10:g.24428285C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.952A=0.048
1000GenomesAmericanSub694C=0.810A=0.190
1000GenomesEast AsianSub1008C=0.584A=0.416
1000GenomesEuropeSub1006C=0.589A=0.411
1000GenomesGlobalStudy-wide5008C=0.740A=0.260
1000GenomesSouth AsianSub978C=0.710A=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.643A=0.357
The Genome Aggregation DatabaseAfricanSub8726C=0.911A=0.089
The Genome Aggregation DatabaseAmericanSub834C=0.810A=0.190
The Genome Aggregation DatabaseEast AsianSub1618C=0.544A=0.456
The Genome Aggregation DatabaseEuropeSub18450C=0.616A=0.383
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.705A=0.294
The Genome Aggregation DatabaseOtherSub302C=0.790A=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.782A=0.217
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.632A=0.368
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
rs61382980.00024alcohol consumption (maxi-drinks)24277619

eQTL of rs6138298 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 rs6138298 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.