rs9390132

Homo sapiens
G>A
PHACTR2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0077 (2242/29118,TOPMED)
A=0081 (2348/28858,GnomAD)
A=0086 (430/5008,1000G)
A=0085 (328/3854,ALSPAC)
A=0086 (320/3708,TWINSUK)
chr6:143740552 (GRCh38.p7) (6q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.143740552G>A
GRCh37.p13 chr 6NC_000006.11:g.144061689G>A

Gene: PHACTR2, phosphatase and actin regulator 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PHACTR2 transcript variant 1NM_001100164.1:c.N/AIntron Variant
PHACTR2 transcript variant 2NM_001100165.1:c.N/AIntron Variant
PHACTR2 transcript variant 4NM_001100166.1:c.N/AIntron Variant
PHACTR2 transcript variant 3NM_014721.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.923A=0.077
1000GenomesAmericanSub694G=0.940A=0.060
1000GenomesEast AsianSub1008G=0.932A=0.068
1000GenomesEuropeSub1006G=0.927A=0.073
1000GenomesGlobalStudy-wide5008G=0.914A=0.086
1000GenomesSouth AsianSub978G=0.850A=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.915A=0.085
The Genome Aggregation DatabaseAfricanSub8466G=0.930A=0.070
The Genome Aggregation DatabaseAmericanSub798G=0.940A=0.060
The Genome Aggregation DatabaseEast AsianSub1582G=0.921A=0.079
The Genome Aggregation DatabaseEuropeSub17712G=0.912A=0.087
The Genome Aggregation DatabaseGlobalStudy-wide28858G=0.918A=0.081
The Genome Aggregation DatabaseOtherSub300G=0.890A=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.923A=0.077
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.914A=0.086
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs93901320.000229alcohol consumption23743675

eQTL of rs9390132 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 rs9390132 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 )
chr6144016216144017164E067-44525
chr6144017201144017379E067-44310
chr6144017471144017575E067-44114
chr6144063789144063933E0672100
chr6144064073144068413E0672384
chr6144094612144095973E06832923
chr6144064073144068413E0692384
chr6144093116144093166E06931427
chr6144096127144096226E06934438
chr6144096312144096775E06934623
chr6144064073144068413E0702384
chr6144012744144013387E071-48302
chr6144016216144017164E071-44525
chr6144055778144056096E071-5593
chr6144063789144063933E0712100
chr6144063943144064021E0712254
chr6144064073144068413E0722384
chr6144055778144056096E073-5593
chr6144056130144056200E073-5489
chr6144063943144064021E0732254
chr6144096025144096076E07334336
chr6144096127144096226E07334438
chr6144021761144023335E074-38354
chr6144063943144064021E0742254
chr6144064073144068413E0742384