rs17380121

Homo sapiens
G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0082 (2474/29828,GnomAD)
T=0060 (1758/29114,TOPMED)
T=0039 (197/5008,1000G)
T=0117 (450/3854,ALSPAC)
T=0118 (437/3708,TWINSUK)
chr2:17501964 (GRCh38.p7) (2p24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
52 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.17501964G>T
GRCh37.p13 chr 2NC_000002.11:g.17683231G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.993T=0.007
1000GenomesAmericanSub694G=0.950T=0.050
1000GenomesEast AsianSub1008G=0.987T=0.013
1000GenomesEuropeSub1006G=0.889T=0.111
1000GenomesGlobalStudy-wide5008G=0.961T=0.039
1000GenomesSouth AsianSub978G=0.970T=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.883T=0.117
The Genome Aggregation DatabaseAfricanSub8718G=0.977T=0.023
The Genome Aggregation DatabaseAmericanSub834G=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1578G=0.984T=0.016
The Genome Aggregation DatabaseEuropeSub18396G=0.882T=0.117
The Genome Aggregation DatabaseGlobalStudy-wide29828G=0.917T=0.082
The Genome Aggregation DatabaseOtherSub302G=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29114G=0.939T=0.060
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.882T=0.118
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs173801217.81E-05alcohol consumption23953852

eQTL of rs17380121 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 rs17380121 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 )
chr21769876817698931E08215537

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr21769921717700294E06715986
chr21771929317719572E06736062
chr21771957517722875E06736344
chr21772292417722999E06739693
chr21772309317723227E06739862
chr21772389817723960E06740667
chr21772437317724461E06741142
chr21772448317725083E06741252
chr21769921717700294E06815986
chr21771957517722875E06836344
chr21772292417722999E06839693
chr21772309317723227E06839862
chr21769921717700294E06915986
chr21771957517722875E06936344
chr21772292417722999E06939693
chr21772389817723960E06940667
chr21769921717700294E07015986
chr21771957517722875E07036344
chr21772292417722999E07039693
chr21772309317723227E07039862
chr21769921717700294E07115986
chr21771957517722875E07136344
chr21772309317723227E07139862
chr21772389817723960E07140667
chr21769921717700294E07215986
chr21771929317719572E07236062
chr21771957517722875E07236344
chr21772292417722999E07239693
chr21772309317723227E07239862
chr21772389817723960E07240667
chr21772437317724461E07241142
chr21772448317725083E07241252
chr21769921717700294E07315986
chr21771929317719572E07336062
chr21771957517722875E07336344
chr21772292417722999E07339693
chr21772309317723227E07339862
chr21772389817723960E07340667
chr21772437317724461E07341142
chr21772448317725083E07341252
chr21769921717700294E07415986
chr21771957517722875E07436344
chr21771957517722875E08136344
chr21772292417722999E08139693
chr21772309317723227E08139862
chr21769921717700294E08215986
chr21771957517722875E08236344
chr21772292417722999E08239693
chr21772309317723227E08239862
chr21772389817723960E08240667
chr21772437317724461E08241142
chr21772448317725083E08241252