rs6888228

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0177 (5300/29950,GnomAD)
C=0203 (5925/29118,TOPMED)
C=0229 (1148/5008,1000G)
C=0121 (466/3854,ALSPAC)
C=0107 (395/3708,TWINSUK)
chr5:2553045 (GRCh38.p7) (5p15.33)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.2553045T>C
GRCh37.p13 chr 5NC_000005.9:g.2553159T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.629C=0.371
1000GenomesAmericanSub694T=0.870C=0.130
1000GenomesEast AsianSub1008T=0.786C=0.214
1000GenomesEuropeSub1006T=0.865C=0.135
1000GenomesGlobalStudy-wide5008T=0.771C=0.229
1000GenomesSouth AsianSub978T=0.780C=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.879C=0.121
The Genome Aggregation DatabaseAfricanSub8706T=0.704C=0.296
The Genome Aggregation DatabaseAmericanSub836T=0.900C=0.100
The Genome Aggregation DatabaseEast AsianSub1618T=0.801C=0.199
The Genome Aggregation DatabaseEuropeSub18488T=0.877C=0.123
The Genome Aggregation DatabaseGlobalStudy-wide29950T=0.823C=0.177
The Genome Aggregation DatabaseOtherSub302T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.796C=0.203
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.893C=0.107
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs68882280.000234alcohol dependence20201924

eQTL of rs6888228 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 rs6888228 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 )
chr525470622547368E070-5791
chr525147292514794E081-38365
chr525149402514990E081-38169
chr525371522537699E081-15460
chr525377762538098E081-15061
chr525382762538669E081-14490
chr525470622547368E082-5791