rs2020202

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0181 (5426/29940,GnomAD)
C=0149 (4340/29118,TOPMED)
C=0282 (1410/5008,1000G)
C=0194 (749/3854,ALSPAC)
C=0190 (703/3708,TWINSUK)
chr6:130663800 (GRCh38.p7) (6q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.130663800T>C
GRCh37.p13 chr 6NC_000006.11:g.130984945T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.943C=0.057
1000GenomesAmericanSub694T=0.800C=0.200
1000GenomesEast AsianSub1008T=0.428C=0.572
1000GenomesEuropeSub1006T=0.801C=0.199
1000GenomesGlobalStudy-wide5008T=0.718C=0.282
1000GenomesSouth AsianSub978T=0.570C=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.806C=0.194
The Genome Aggregation DatabaseAfricanSub8722T=0.921C=0.079
The Genome Aggregation DatabaseAmericanSub838T=0.800C=0.200
The Genome Aggregation DatabaseEast AsianSub1612T=0.427C=0.573
The Genome Aggregation DatabaseEuropeSub18468T=0.805C=0.194
The Genome Aggregation DatabaseGlobalStudy-wide29940T=0.818C=0.181
The Genome Aggregation DatabaseOtherSub300T=0.800C=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.851C=0.149
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.810C=0.190
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
rs20202020.00023alcohol dependence20201924

eQTL of rs2020202 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 rs2020202 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 )
chr6130954147130954327E068-30618
chr6130953250130953316E070-31629
chr6130953554130953685E070-31260
chr6130975111130975265E070-9680
chr6131034205131034801E07049260
chr6131034205131034801E08149260
chr6131034090131034140E08249145