rs6048354

Homo sapiens
A>G / A>T
None
Check p-value
SNV (Single Nucleotide Variation)
G=0458 (13727/29934,GnomAD)
G=0461 (13427/29118,TOPMED)
G=0423 (2118/5008,1000G)
G=0478 (1842/3854,ALSPAC)
G=0485 (1797/3708,TWINSUK)
chr20:22800188 (GRCh38.p7) (20p11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.22800188A>G
GRCh38.p7 chr 20NC_000020.11:g.22800188A>T
GRCh37.p13 chr 20NC_000020.10:g.22780826A>G
GRCh37.p13 chr 20NC_000020.10:g.22780826A>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.584G=0.416
1000GenomesAmericanSub694A=0.660G=0.340
1000GenomesEast AsianSub1008A=0.572G=0.428
1000GenomesEuropeSub1006A=0.517G=0.483
1000GenomesGlobalStudy-wide5008A=0.577G=0.423
1000GenomesSouth AsianSub978A=0.580G=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.522G=0.478
The Genome Aggregation DatabaseAfricanSub8714A=0.592G=0.408
The Genome Aggregation DatabaseAmericanSub838A=0.670G=0.33,
The Genome Aggregation DatabaseEast AsianSub1616A=0.598G=0.402
The Genome Aggregation DatabaseEuropeSub18464A=0.507G=0.492
The Genome Aggregation DatabaseGlobalStudy-wide29934A=0.541G=0.458
The Genome Aggregation DatabaseOtherSub302A=0.480G=0.52,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.538G=0.461
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.515G=0.485
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs60483541.22E-05alcohol consumption23743675

eQTL of rs6048354 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 rs6048354 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 )
chr205066421150664261E07019736
chr205066432750665356E07019852
chr205066544550666247E07020970