rs7594454

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0326 (9766/29896,GnomAD)
T=0405 (11805/29118,TOPMED)
T=0347 (1737/5008,1000G)
T=0217 (838/3854,ALSPAC)
T=0208 (772/3708,TWINSUK)
chr2:236629292 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome
140 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.236629292C>T
GRCh37.p13 chr 2NC_000002.11:g.237537935C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.250T=0.750
1000GenomesAmericanSub694C=0.840T=0.160
1000GenomesEast AsianSub1008C=0.843T=0.157
1000GenomesEuropeSub1006C=0.778T=0.222
1000GenomesGlobalStudy-wide5008C=0.653T=0.347
1000GenomesSouth AsianSub978C=0.740T=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.783T=0.217
The Genome Aggregation DatabaseAfricanSub8682C=0.333T=0.667
The Genome Aggregation DatabaseAmericanSub838C=0.830T=0.170
The Genome Aggregation DatabaseEast AsianSub1612C=0.831T=0.169
The Genome Aggregation DatabaseEuropeSub18462C=0.811T=0.188
The Genome Aggregation DatabaseGlobalStudy-wide29896C=0.673T=0.326
The Genome Aggregation DatabaseOtherSub302C=0.770T=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.594T=0.405
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.792T=0.208
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs75944540.0000026alcohol dependence23089632
rs75944540.0000305alcohol dependence23089632

eQTL of rs7594454 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 rs7594454 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 )
chr2237488021237488075E067-49860
chr2237488238237488418E067-49517
chr2237488500237488907E067-49028
chr2237538984237539374E0671049
chr2237569672237570704E06731737
chr2237578775237578825E06740840
chr2237579087237579144E06741152
chr2237522085237522176E068-15759
chr2237534685237534740E068-3195
chr2237538984237539374E0681049
chr2237539431237539520E0681496
chr2237539626237539827E0681691
chr2237569672237570704E06831737
chr2237578775237578825E06840840
chr2237579087237579144E06841152
chr2237584578237584639E06846643
chr2237584836237585080E06846901
chr2237585192237585449E06847257
chr2237488021237488075E069-49860
chr2237488238237488418E069-49517
chr2237488500237488907E069-49028
chr2237538984237539374E0691049
chr2237539431237539520E0691496
chr2237539626237539827E0691691
chr2237539863237540345E0691928
chr2237540358237540459E0692423
chr2237569672237570704E06931737
chr2237571465237573042E06933530
chr2237578775237578825E06940840
chr2237579087237579144E06941152
chr2237584578237584639E06946643
chr2237584836237585080E06946901
chr2237585192237585449E06947257
chr2237524722237525153E070-12782
chr2237525341237525551E070-12384
chr2237525752237526482E070-11453
chr2237526554237526634E070-11301
chr2237534685237534740E070-3195
chr2237534920237535000E070-2935
chr2237539626237539827E0701691
chr2237539863237540345E0701928
chr2237585192237585449E07047257
chr2237585767237585898E07047832
chr2237488021237488075E071-49860
chr2237488238237488418E071-49517
chr2237488500237488907E071-49028
chr2237521857237521932E071-16003
chr2237522085237522176E071-15759
chr2237522433237522641E071-15294
chr2237534373237534518E071-3417
chr2237538984237539374E0711049
chr2237539431237539520E0711496
chr2237569672237570704E07131737
chr2237571032237571267E07133097
chr2237571404237571454E07133469
chr2237571465237573042E07133530
chr2237584578237584639E07146643
chr2237584836237585080E07146901
chr2237585192237585449E07147257
chr2237488021237488075E072-49860
chr2237488238237488418E072-49517
chr2237488500237488907E072-49028
chr2237490341237490483E072-47452
chr2237521857237521932E072-16003
chr2237522085237522176E072-15759
chr2237522433237522641E072-15294
chr2237534373237534518E072-3417
chr2237538984237539374E0721049
chr2237539431237539520E0721496
chr2237539626237539827E0721691
chr2237539863237540345E0721928
chr2237540358237540459E0722423
chr2237578775237578825E07240840
chr2237579087237579144E07241152
chr2237580106237580196E07242171
chr2237571404237571454E07333469
chr2237571465237573042E07333530
chr2237578775237578825E07340840
chr2237579087237579144E07341152
chr2237488021237488075E074-49860
chr2237488238237488418E074-49517
chr2237488500237488907E074-49028
chr2237521857237521932E074-16003
chr2237522085237522176E074-15759
chr2237522433237522641E074-15294
chr2237534373237534518E074-3417
chr2237538984237539374E0741049
chr2237539431237539520E0741496
chr2237539626237539827E0741691
chr2237539863237540345E0741928
chr2237540358237540459E0742423
chr2237569672237570704E07431737
chr2237578775237578825E07440840
chr2237579087237579144E07441152
chr2237580106237580196E07442171
chr2237580229237580279E07442294
chr2237584578237584639E07446643
chr2237584836237585080E07446901
chr2237488238237488418E081-49517
chr2237488500237488907E081-49028
chr2237497942237498290E081-39645
chr2237521497237521694E081-16241
chr2237521857237521932E081-16003
chr2237522085237522176E081-15759
chr2237522433237522641E081-15294
chr2237523023237523127E081-14808
chr2237523281237523441E081-14494
chr2237523633237523683E081-14252
chr2237524722237525153E081-12782
chr2237525341237525551E081-12384
chr2237525752237526482E081-11453
chr2237526554237526634E081-11301
chr2237538984237539374E0811049
chr2237539431237539520E0811496
chr2237539626237539827E0811691
chr2237539863237540345E0811928
chr2237540358237540459E0812423
chr2237583361237584492E08145426
chr2237584578237584639E08146643
chr2237584836237585080E08146901
chr2237585192237585449E08147257
chr2237496250237496385E082-41550
chr2237521497237521694E082-16241
chr2237521857237521932E082-16003
chr2237522085237522176E082-15759
chr2237522433237522641E082-15294
chr2237523023237523127E082-14808
chr2237523281237523441E082-14494
chr2237523633237523683E082-14252
chr2237525341237525551E082-12384
chr2237525752237526482E082-11453
chr2237540358237540459E0822423
chr2237568000237568070E08230065
chr2237568201237568277E08230266
chr2237568413237568750E08230478
chr2237583361237584492E08245426
chr2237584578237584639E08246643
chr2237584836237585080E08246901
chr2237585192237585449E08247257
chr2237585767237585898E08247832