rs7640024

Homo sapiens
G>A
PEX5L : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0294 (8825/29924,GnomAD)
G==0265 (7731/29118,TOPMED)
G==0251 (1256/5008,1000G)
G==0352 (1357/3854,ALSPAC)
G==0350 (1298/3708,TWINSUK)
chr3:179851152 (GRCh38.p7) (3q26.33)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.179851152G>A
GRCh37.p13 chr 3NC_000003.11:g.179568940G>A

Gene: PEX5L, peroxisomal biogenesis factor 5-like(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PEX5L transcript variant 2NM_001256750.1:c.N/AIntron Variant
PEX5L transcript variant 3NM_001256751.1:c.N/AIntron Variant
PEX5L transcript variant 4NM_001256752.1:c.N/AIntron Variant
PEX5L transcript variant 5NM_001256753.1:c.N/AIntron Variant
PEX5L transcript variant 6NM_001256754.1:c.N/AIntron Variant
PEX5L transcript variant 7NM_001256755.1:c.N/AIntron Variant
PEX5L transcript variant 8NM_001256756.1:c.N/AIntron Variant
PEX5L transcript variant 1NM_016559.2:c.N/AIntron Variant
PEX5L transcript variant X1XM_011512882.2:c.N/AIntron Variant
PEX5L transcript variant X2XM_011512884.2:c.N/AIntron Variant
PEX5L transcript variant X3XM_011512885.2:c.N/AIntron Variant
PEX5L transcript variant X4XM_011512886.2:c.N/AIntron Variant
PEX5L transcript variant X5XM_011512887.2:c.N/AIntron Variant
PEX5L transcript variant X4XM_011512888.2:c.N/AIntron Variant
PEX5L transcript variant X6XM_011512891.2:c.N/AIntron Variant
PEX5L transcript variant X9XM_011512892.2:c.N/AIntron Variant
PEX5L transcript variant X6XM_017006601.1:c.N/AIntron Variant
PEX5L transcript variant X7XM_017006602.1:c.N/AIntron Variant
PEX5L transcript variant X9XM_017006603.1:c.N/AIntron Variant
PEX5L transcript variant X10XM_017006604.1:c.N/AIntron Variant
PEX5L transcript variant X11XM_017006605.1:c.N/AIntron Variant
PEX5L transcript variant X13XM_017006606.1:c.N/AIntron Variant
PEX5L transcript variant X7XM_017006607.1:c.N/AIntron Variant
PEX5L transcript variant X8XM_017006608.1:c.N/AIntron Variant
PEX5L transcript variant X16XM_017006609.1:c.N/AIntron Variant
PEX5L transcript variant X17XM_017006610.1:c.N/AIntron Variant
PEX5L transcript variant X18XM_017006611.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.113A=0.887
1000GenomesAmericanSub694G=0.310A=0.690
1000GenomesEast AsianSub1008G=0.206A=0.794
1000GenomesEuropeSub1006G=0.370A=0.630
1000GenomesGlobalStudy-wide5008G=0.251A=0.749
1000GenomesSouth AsianSub978G=0.320A=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.352A=0.648
The Genome Aggregation DatabaseAfricanSub8714G=0.161A=0.839
The Genome Aggregation DatabaseAmericanSub834G=0.330A=0.670
The Genome Aggregation DatabaseEast AsianSub1616G=0.227A=0.773
The Genome Aggregation DatabaseEuropeSub18458G=0.358A=0.641
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.294A=0.705
The Genome Aggregation DatabaseOtherSub302G=0.520A=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.265A=0.734
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.350A=0.650
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
rs76400244.54E-05alcohol consumption23743675

eQTL of rs7640024 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 rs7640024 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 )
chr3179529118179529795E067-39145
chr3179537253179537495E067-31445
chr3179537787179537923E067-31017
chr3179537967179538092E067-30848
chr3179543804179543898E067-25042
chr3179544115179544301E067-24639
chr3179552701179553468E067-15472
chr3179599147179599288E06730207
chr3179599744179599839E06730804
chr3179600132179600409E06731192
chr3179529118179529795E068-39145
chr3179537253179537495E068-31445
chr3179599744179599839E06830804
chr3179600132179600409E06831192
chr3179600440179600558E06831500
chr3179600599179600680E06831659
chr3179600786179600863E06831846
chr3179529118179529795E069-39145
chr3179537253179537495E069-31445
chr3179537787179537923E069-31017
chr3179598773179599003E06929833
chr3179599147179599288E06930207
chr3179599744179599839E06930804
chr3179600132179600409E06931192
chr3179600440179600558E06931500
chr3179600599179600680E06931659
chr3179537253179537495E070-31445
chr3179537787179537923E070-31017
chr3179537967179538092E070-30848
chr3179599744179599839E07030804
chr3179600132179600409E07031192
chr3179529118179529795E071-39145
chr3179537787179537923E071-31017
chr3179537967179538092E071-30848
chr3179543804179543898E071-25042
chr3179544115179544301E071-24639
chr3179552701179553468E071-15472
chr3179598773179599003E07129833
chr3179599147179599288E07130207
chr3179599744179599839E07130804
chr3179600132179600409E07131192
chr3179600440179600558E07131500
chr3179600599179600680E07131659
chr3179600786179600863E07131846
chr3179529118179529795E072-39145
chr3179537253179537495E072-31445
chr3179537787179537923E072-31017
chr3179537967179538092E072-30848
chr3179543804179543898E072-25042
chr3179544115179544301E072-24639
chr3179552701179553468E072-15472
chr3179599744179599839E07230804
chr3179600132179600409E07231192
chr3179600440179600558E07231500
chr3179600599179600680E07231659
chr3179600786179600863E07231846
chr3179529118179529795E074-39145
chr3179537253179537495E074-31445
chr3179537787179537923E074-31017
chr3179537967179538092E074-30848
chr3179538787179539319E074-29621
chr3179543804179543898E074-25042
chr3179544115179544301E074-24639
chr3179552701179553468E074-15472
chr3179553911179554080E074-14860
chr3179598773179599003E07429833
chr3179599147179599288E07430207
chr3179599744179599839E07430804
chr3179600132179600409E07431192
chr3179600440179600558E07431500
chr3179600599179600680E07431659
chr3179600786179600863E07431846
chr3179599744179599839E08230804
chr3179600132179600409E08231192
chr3179600440179600558E08231500
chr3179600599179600680E08231659