rs17592582

Homo sapiens
T>C
PIK3CA : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0044 (1329/29992,GnomAD)
C=0056 (1632/29118,TOPMED)
C=0052 (262/5008,1000G)
C=0037 (143/3854,ALSPAC)
C=0038 (141/3708,TWINSUK)
chr3:179192562 (GRCh38.p7) (3q26.32)
AD
GWASdb2
1   publication(s)
See rs on genome
139 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.179192562T>C
GRCh37.p13 chr 3NC_000003.11:g.178910350T>C
PIK3CA RefSeqGene LRG_310

Gene: PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PIK3CA transcriptNM_006218.3:c.N/AIntron Variant
PIK3CA transcript variant X2XM_006713658.3:c.N/AIntron Variant
PIK3CA transcript variant X1XM_011512894.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.936C=0.064
1000GenomesAmericanSub694T=0.930C=0.070
1000GenomesEast AsianSub1008T=0.953C=0.047
1000GenomesEuropeSub1006T=0.960C=0.040
1000GenomesGlobalStudy-wide5008T=0.948C=0.052
1000GenomesSouth AsianSub978T=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.963C=0.037
The Genome Aggregation DatabaseAfricanSub8732T=0.944C=0.056
The Genome Aggregation DatabaseAmericanSub838T=0.930C=0.070
The Genome Aggregation DatabaseEast AsianSub1620T=0.949C=0.051
The Genome Aggregation DatabaseEuropeSub18500T=0.963C=0.037
The Genome Aggregation DatabaseGlobalStudy-wide29992T=0.955C=0.044
The Genome Aggregation DatabaseOtherSub302T=0.940C=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.944C=0.056
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.962C=0.038
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
rs175925820.00019alcohol dependence20201924

eQTL of rs17592582 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 rs17592582 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 )
chr3178868410178868528E067-41822
chr3178873960178874004E067-36346
chr3178874114178874231E067-36119
chr3178874560178874751E067-35599
chr3178898359178898502E067-11848
chr3178898744178899257E067-11093
chr3178899443178899504E067-10846
chr3178899547178899609E067-10741
chr3178899735178899828E067-10522
chr3178902118178902314E067-8036
chr3178907590178907900E067-2450
chr3178864443178864498E068-45852
chr3178868410178868528E068-41822
chr3178873960178874004E068-36346
chr3178874114178874231E068-36119
chr3178874560178874751E068-35599
chr3178897527178897618E068-12732
chr3178897795178898051E068-12299
chr3178898197178898344E068-12006
chr3178898359178898502E068-11848
chr3178898744178899257E068-11093
chr3178899443178899504E068-10846
chr3178899547178899609E068-10741
chr3178899735178899828E068-10522
chr3178899844178900260E068-10090
chr3178900336178900403E068-9947
chr3178904071178904469E068-5881
chr3178907590178907900E068-2450
chr3178913554178913660E0683204
chr3178913743178913816E0683393
chr3178913843178914219E0683493
chr3178868410178868528E069-41822
chr3178873960178874004E069-36346
chr3178874114178874231E069-36119
chr3178896422178896475E069-13875
chr3178896521178896630E069-13720
chr3178896826178896916E069-13434
chr3178897795178898051E069-12299
chr3178898197178898344E069-12006
chr3178898359178898502E069-11848
chr3178898744178899257E069-11093
chr3178907590178907900E069-2450
chr3178884464178884566E070-25784
chr3178896422178896475E070-13875
chr3178897795178898051E070-12299
chr3178898197178898344E070-12006
chr3178898359178898502E070-11848
chr3178898744178899257E070-11093
chr3178899443178899504E070-10846
chr3178899547178899609E070-10741
chr3178899735178899828E070-10522
chr3178899844178900260E070-10090
chr3178900336178900403E070-9947
chr3178900830178900921E070-9429
chr3178913039178913113E0702689
chr3178913554178913660E0703204
chr3178913743178913816E0703393
chr3178868410178868528E071-41822
chr3178873960178874004E071-36346
chr3178874114178874231E071-36119
chr3178874560178874751E071-35599
chr3178884464178884566E071-25784
chr3178897527178897618E071-12732
chr3178897795178898051E071-12299
chr3178898197178898344E071-12006
chr3178898359178898502E071-11848
chr3178898744178899257E071-11093
chr3178899443178899504E071-10846
chr3178899547178899609E071-10741
chr3178899735178899828E071-10522
chr3178899844178900260E071-10090
chr3178900336178900403E071-9947
chr3178902118178902314E071-8036
chr3178902761178902959E071-7391
chr3178904071178904469E071-5881
chr3178907590178907900E071-2450
chr3178908258178908308E071-2042
chr3178908464178908728E071-1622
chr3178913039178913113E0712689
chr3178913554178913660E0713204
chr3178913743178913816E0713393
chr3178898197178898344E072-12006
chr3178898359178898502E072-11848
chr3178898744178899257E072-11093
chr3178899443178899504E072-10846
chr3178899547178899609E072-10741
chr3178899735178899828E072-10522
chr3178899844178900260E072-10090
chr3178900336178900403E072-9947
chr3178907590178907900E072-2450
chr3178913554178913660E0723204
chr3178913743178913816E0723393
chr3178913843178914219E0723493
chr3178868410178868528E073-41822
chr3178898197178898344E073-12006
chr3178898359178898502E073-11848
chr3178868410178868528E074-41822
chr3178873960178874004E074-36346
chr3178874114178874231E074-36119
chr3178892832178892909E074-17441
chr3178897527178897618E074-12732
chr3178897795178898051E074-12299
chr3178898197178898344E074-12006
chr3178898359178898502E074-11848
chr3178898744178899257E074-11093
chr3178899443178899504E074-10846
chr3178899547178899609E074-10741
chr3178899735178899828E074-10522
chr3178899844178900260E074-10090
chr3178900336178900403E074-9947
chr3178900830178900921E074-9429
chr3178902118178902314E074-8036
chr3178902761178902959E074-7391
chr3178904071178904469E074-5881
chr3178912873178912987E0742523
chr3178913039178913113E0742689
chr3178913554178913660E0743204
chr3178913743178913816E0743393
chr3178913843178914219E0743493
chr3178868410178868528E081-41822
chr3178907590178907900E081-2450
chr3178908258178908308E081-2042
chr3178908464178908728E081-1622
chr3178913039178913113E0812689
chr3178913554178913660E0813204
chr3178913743178913816E0813393
chr3178913843178914219E0813493
chr3178868410178868528E082-41822
chr3178884464178884566E082-25784
chr3178884621178884671E082-25679
chr3178884749178884850E082-25500
chr3178898359178898502E082-11848
chr3178898744178899257E082-11093
chr3178899443178899504E082-10846
chr3178899547178899609E082-10741
chr3178899735178899828E082-10522
chr3178899844178900260E082-10090
chr3178900336178900403E082-9947
chr3178907590178907900E082-2450










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3178864664178867875E067-42475
chr3178864664178867875E068-42475
chr3178864664178867875E069-42475
chr3178864664178867875E070-42475
chr3178864664178867875E071-42475
chr3178864664178867875E072-42475
chr3178864664178867875E073-42475
chr3178864664178867875E074-42475
chr3178864664178867875E082-42475