rs17398711

Homo sapiens
C>A / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0214 (6411/29916,GnomAD)
T=0198 (5778/29116,TOPMED)
T=0175 (877/5008,1000G)
T=0241 (928/3854,ALSPAC)
T=0237 (878/3708,TWINSUK)
chr2:35010053 (GRCh38.p7) (2p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.35010053C>A
GRCh38.p7 chr 2NC_000002.12:g.35010053C>T
GRCh37.p13 chr 2NC_000002.11:g.35235120C>A
GRCh37.p13 chr 2NC_000002.11:g.35235120C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.838T=0.162
1000GenomesAmericanSub694C=0.880T=0.120
1000GenomesEast AsianSub1008C=0.882T=0.118
1000GenomesEuropeSub1006C=0.743T=0.257
1000GenomesGlobalStudy-wide5008C=0.825T=0.175
1000GenomesSouth AsianSub978C=0.790T=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.759T=0.241
The Genome Aggregation DatabaseAfricanSub8708C=0.823T=0.177
The Genome Aggregation DatabaseAmericanSub832C=0.880T=0.12,
The Genome Aggregation DatabaseEast AsianSub1614C=0.901T=0.099
The Genome Aggregation DatabaseEuropeSub18460C=0.753T=0.246
The Genome Aggregation DatabaseGlobalStudy-wide29916C=0.785T=0.214
The Genome Aggregation DatabaseOtherSub302C=0.790T=0.21,
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.801T=0.198
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.763T=0.237
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
rs173987110.0000754alcoholismpha002891
rs173987110.0000754alcohol dependence20201924

eQTL of rs17398711 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 rs17398711 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2111435165111436737E06739077
chr2111435165111436737E06839077
chr2111435165111436737E06939077
chr2111435060111435147E07038972
chr2111435165111436737E07039077
chr2111435060111435147E07138972
chr2111435165111436737E07139077
chr2111435165111436737E07239077
chr2111435060111435147E07338972
chr2111435165111436737E07339077
chr2111435165111436737E07439077
chr2111435060111435147E08138972
chr2111435165111436737E08139077
chr2111435060111435147E08238972
chr2111435165111436737E08239077