rs6443673

Homo sapiens
C>T
PEX5L : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0334 (9724/29118,TOPMED)
C==0334 (9538/28528,GnomAD)
C==0305 (1525/5008,1000G)
C==0351 (1354/3854,ALSPAC)
C==0350 (1298/3708,TWINSUK)
chr3:179848495 (GRCh38.p7) (3q26.33)
AD
GWASdb2
1   publication(s)
See rs on genome
76 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.179848495C>T
GRCh37.p13 chr 3NC_000003.11:g.179566283C>T

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
1000GenomesAfricanSub1322C=0.279T=0.721
1000GenomesAmericanSub694C=0.330T=0.670
1000GenomesEast AsianSub1008C=0.235T=0.765
1000GenomesEuropeSub1006C=0.373T=0.627
1000GenomesGlobalStudy-wide5008C=0.305T=0.695
1000GenomesSouth AsianSub978C=0.320T=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.351T=0.649
The Genome Aggregation DatabaseAfricanSub8304C=0.292T=0.708
The Genome Aggregation DatabaseAmericanSub814C=0.350T=0.650
The Genome Aggregation DatabaseEast AsianSub1598C=0.228T=0.772
The Genome Aggregation DatabaseEuropeSub17510C=0.360T=0.639
The Genome Aggregation DatabaseGlobalStudy-wide28528C=0.334T=0.665
The Genome Aggregation DatabaseOtherSub302C=0.530T=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.334T=0.666
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.350T=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
rs64436735.19E-05alcohol consumption23743675

eQTL of rs6443673 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 rs6443673 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 )
chr3179529118179529795E067-36488
chr3179537253179537495E067-28788
chr3179537787179537923E067-28360
chr3179537967179538092E067-28191
chr3179543804179543898E067-22385
chr3179544115179544301E067-21982
chr3179552701179553468E067-12815
chr3179599147179599288E06732864
chr3179599744179599839E06733461
chr3179600132179600409E06733849
chr3179529118179529795E068-36488
chr3179537253179537495E068-28788
chr3179599744179599839E06833461
chr3179600132179600409E06833849
chr3179600440179600558E06834157
chr3179600599179600680E06834316
chr3179600786179600863E06834503
chr3179529118179529795E069-36488
chr3179537253179537495E069-28788
chr3179537787179537923E069-28360
chr3179598773179599003E06932490
chr3179599147179599288E06932864
chr3179599744179599839E06933461
chr3179600132179600409E06933849
chr3179600440179600558E06934157
chr3179600599179600680E06934316
chr3179537253179537495E070-28788
chr3179537787179537923E070-28360
chr3179537967179538092E070-28191
chr3179599744179599839E07033461
chr3179600132179600409E07033849
chr3179529118179529795E071-36488
chr3179537787179537923E071-28360
chr3179537967179538092E071-28191
chr3179543804179543898E071-22385
chr3179544115179544301E071-21982
chr3179552701179553468E071-12815
chr3179598773179599003E07132490
chr3179599147179599288E07132864
chr3179599744179599839E07133461
chr3179600132179600409E07133849
chr3179600440179600558E07134157
chr3179600599179600680E07134316
chr3179600786179600863E07134503
chr3179529118179529795E072-36488
chr3179537253179537495E072-28788
chr3179537787179537923E072-28360
chr3179537967179538092E072-28191
chr3179543804179543898E072-22385
chr3179544115179544301E072-21982
chr3179552701179553468E072-12815
chr3179599744179599839E07233461
chr3179600132179600409E07233849
chr3179600440179600558E07234157
chr3179600599179600680E07234316
chr3179600786179600863E07234503
chr3179529118179529795E074-36488
chr3179537253179537495E074-28788
chr3179537787179537923E074-28360
chr3179537967179538092E074-28191
chr3179538787179539319E074-26964
chr3179543804179543898E074-22385
chr3179544115179544301E074-21982
chr3179552701179553468E074-12815
chr3179553911179554080E074-12203
chr3179598773179599003E07432490
chr3179599147179599288E07432864
chr3179599744179599839E07433461
chr3179600132179600409E07433849
chr3179600440179600558E07434157
chr3179600599179600680E07434316
chr3179600786179600863E07434503
chr3179599744179599839E08233461
chr3179600132179600409E08233849
chr3179600440179600558E08234157
chr3179600599179600680E08234316