rs12493155

Homo sapiens
C>T
PIK3CB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0357 (10629/29760,GnomAD)
T=0287 (8380/29118,TOPMED)
T=0351 (1759/5008,1000G)
T=0462 (1781/3854,ALSPAC)
T=0468 (1735/3708,TWINSUK)
chr3:138681490 (GRCh38.p7) (3q22.3)
AD
GWASdb2
3   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.138681490C>T
GRCh37.p13 chr 3NC_000003.11:g.138400332C>T

Gene: PIK3CB, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PIK3CB transcript variant 2NM_001256045.1:c.N/AIntron Variant
PIK3CB transcript variant 1NM_006219.2:c.N/AIntron Variant
PIK3CB transcript variant X1XM_005247530.2:c.N/AIntron Variant
PIK3CB transcript variant X3XM_006713659.3:c.N/AIntron Variant
PIK3CB transcript variant X2XM_011512895.2:c.N/AIntron Variant
PIK3CB transcript variant X5XM_011512896.1:c.N/AIntron Variant
PIK3CB transcript variant X4XM_017006619.1:c.N/AIntron Variant
PIK3CB transcript variant X6XM_017006620.1:c.N/AIntron Variant
PIK3CB transcript variant X7XM_017006621.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.980T=0.020
1000GenomesAmericanSub694C=0.430T=0.570
1000GenomesEast AsianSub1008C=0.558T=0.442
1000GenomesEuropeSub1006C=0.569T=0.431
1000GenomesGlobalStudy-wide5008C=0.649T=0.351
1000GenomesSouth AsianSub978C=0.530T=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.538T=0.462
The Genome Aggregation DatabaseAfricanSub8666C=0.912T=0.088
The Genome Aggregation DatabaseAmericanSub836C=0.380T=0.620
The Genome Aggregation DatabaseEast AsianSub1618C=0.538T=0.462
The Genome Aggregation DatabaseEuropeSub18340C=0.537T=0.462
The Genome Aggregation DatabaseGlobalStudy-wide29760C=0.642T=0.357
The Genome Aggregation DatabaseOtherSub300C=0.600T=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.712T=0.287
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.532T=0.468
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res
27376028Polymorphisms of Insulin-Like Growth Factor 1 Pathway Genes and Breast Cancer Risk.Shi JFront Oncol
20508983Centrosome-related genes, genetic variation, and risk of breast cancer.Olson JEBreast Cancer Res Treat

P-Value

SNP ID p-value Traits Study
rs124931550.000731alcohol dependence21314694

eQTL of rs12493155 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 rs12493155 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 )
chr3138392529138392850E067-7482
chr3138392884138393265E067-7067
chr3138442428138442820E06742096
chr3138443392138443498E06743060
chr3138443505138443599E06743173
chr3138445951138446145E06845619
chr3138443392138443498E06943060
chr3138443505138443599E06943173
chr3138443392138443498E07143060
chr3138443505138443599E07143173
chr3138389247138389301E072-11031
chr3138389360138389563E072-10769
chr3138443392138443498E07243060
chr3138443505138443599E07243173
chr3138392529138392850E073-7482
chr3138392884138393265E073-7067
chr3138388850138388966E074-11366
chr3138443392138443498E07443060
chr3138443505138443599E07443173
chr3138440975138441025E08140643