rs13379803

Homo sapiens
C>T
AKAP13 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0252 (7547/29946,GnomAD)
T=0324 (9444/29118,TOPMED)
T=0287 (1437/5008,1000G)
T=0140 (538/3854,ALSPAC)
T=0142 (526/3708,TWINSUK)
chr15:85405478 (GRCh38.p7) (15q25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
32 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.85405478C>T
GRCh37.p13 chr 15NC_000015.9:g.85948709C>T

Gene: AKAP13, A-kinase anchoring protein 13(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AKAP13 transcript variant 1NM_006738.5:c.N/AIntron Variant
AKAP13 transcript variant 2NM_007200.4:c.N/AIntron Variant
AKAP13 transcript variant 4NM_001270546.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.449T=0.551
1000GenomesAmericanSub694C=0.620T=0.380
1000GenomesEast AsianSub1008C=0.806T=0.194
1000GenomesEuropeSub1006C=0.868T=0.132
1000GenomesGlobalStudy-wide5008C=0.713T=0.287
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.860T=0.140
The Genome Aggregation DatabaseAfricanSub8706C=0.490T=0.510
The Genome Aggregation DatabaseAmericanSub838C=0.580T=0.420
The Genome Aggregation DatabaseEast AsianSub1618C=0.814T=0.186
The Genome Aggregation DatabaseEuropeSub18482C=0.869T=0.130
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.748T=0.252
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.675T=0.324
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.858T=0.142
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
rs133798030.000419alcohol dependence20201924

eQTL of rs13379803 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 rs13379803 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 )
chr158594440385945100E068-3609
chr158594514185946376E068-2333
chr158594700285949012E0680
chr158595085285951891E0682143
chr158594904685949099E069337
chr158591463285914682E070-34027
chr158591474185914791E070-33918
chr158591587885915928E070-32781
chr158591693785916988E070-31721
chr158591809985918487E070-30222
chr158595601185958272E0707302
chr158596417985964750E07015470
chr158596486485965079E07016155
chr158596509885965317E07016389
chr158596537685965484E07016667
chr158594440385945100E071-3609
chr158594514185946376E071-2333
chr158594700285949012E0710
chr158594904685949099E071337
chr158594913885949214E071429
chr158594941785949531E071708
chr158595078285950848E0712073
chr158595085285951891E0712143
chr158595601185958272E0717302
chr158594661785946709E073-2000
chr158594671585946784E073-1925
chr158594514185946376E074-2333
chr158594700285949012E0740
chr158595078285950848E0742073
chr158595085285951891E0742143
chr158595601185958272E0747302
chr158596486485965079E08116155







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr158592269285925510E067-23199
chr158592269285925510E068-23199
chr158592269285925510E069-23199
chr158592269285925510E070-23199
chr158592269285925510E071-23199
chr158592269285925510E072-23199
chr158592269285925510E073-23199
chr158592269285925510E074-23199
chr158592269285925510E082-23199