Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.179851152G>A |
GRCh37.p13 chr 3 | NC_000003.11:g.179568940G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
PEX5L transcript variant 2 | NM_001256750.1:c. | N/A | Intron Variant |
PEX5L transcript variant 3 | NM_001256751.1:c. | N/A | Intron Variant |
PEX5L transcript variant 4 | NM_001256752.1:c. | N/A | Intron Variant |
PEX5L transcript variant 5 | NM_001256753.1:c. | N/A | Intron Variant |
PEX5L transcript variant 6 | NM_001256754.1:c. | N/A | Intron Variant |
PEX5L transcript variant 7 | NM_001256755.1:c. | N/A | Intron Variant |
PEX5L transcript variant 8 | NM_001256756.1:c. | N/A | Intron Variant |
PEX5L transcript variant 1 | NM_016559.2:c. | N/A | Intron Variant |
PEX5L transcript variant X1 | XM_011512882.2:c. | N/A | Intron Variant |
PEX5L transcript variant X2 | XM_011512884.2:c. | N/A | Intron Variant |
PEX5L transcript variant X3 | XM_011512885.2:c. | N/A | Intron Variant |
PEX5L transcript variant X4 | XM_011512886.2:c. | N/A | Intron Variant |
PEX5L transcript variant X5 | XM_011512887.2:c. | N/A | Intron Variant |
PEX5L transcript variant X4 | XM_011512888.2:c. | N/A | Intron Variant |
PEX5L transcript variant X6 | XM_011512891.2:c. | N/A | Intron Variant |
PEX5L transcript variant X9 | XM_011512892.2:c. | N/A | Intron Variant |
PEX5L transcript variant X6 | XM_017006601.1:c. | N/A | Intron Variant |
PEX5L transcript variant X7 | XM_017006602.1:c. | N/A | Intron Variant |
PEX5L transcript variant X9 | XM_017006603.1:c. | N/A | Intron Variant |
PEX5L transcript variant X10 | XM_017006604.1:c. | N/A | Intron Variant |
PEX5L transcript variant X11 | XM_017006605.1:c. | N/A | Intron Variant |
PEX5L transcript variant X13 | XM_017006606.1:c. | N/A | Intron Variant |
PEX5L transcript variant X7 | XM_017006607.1:c. | N/A | Intron Variant |
PEX5L transcript variant X8 | XM_017006608.1:c. | N/A | Intron Variant |
PEX5L transcript variant X16 | XM_017006609.1:c. | N/A | Intron Variant |
PEX5L transcript variant X17 | XM_017006610.1:c. | N/A | Intron Variant |
PEX5L transcript variant X18 | XM_017006611.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.113 | A=0.887 |
1000Genomes | American | Sub | 694 | G=0.310 | A=0.690 |
1000Genomes | East Asian | Sub | 1008 | G=0.206 | A=0.794 |
1000Genomes | Europe | Sub | 1006 | G=0.370 | A=0.630 |
1000Genomes | Global | Study-wide | 5008 | G=0.251 | A=0.749 |
1000Genomes | South Asian | Sub | 978 | G=0.320 | A=0.680 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.352 | A=0.648 |
The Genome Aggregation Database | African | Sub | 8714 | G=0.161 | A=0.839 |
The Genome Aggregation Database | American | Sub | 834 | G=0.330 | A=0.670 |
The Genome Aggregation Database | East Asian | Sub | 1616 | G=0.227 | A=0.773 |
The Genome Aggregation Database | Europe | Sub | 18458 | G=0.358 | A=0.641 |
The Genome Aggregation Database | Global | Study-wide | 29924 | G=0.294 | A=0.705 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.520 | A=0.480 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.265 | A=0.734 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.350 | A=0.650 |
PMID | Title | Author | Journal |
---|---|---|---|
23743675 | A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. | Kapoor M | Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs7640024 | 4.54E-05 | alcohol consumption | 23743675 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr3 | 179529118 | 179529795 | E067 | -39145 |
chr3 | 179537253 | 179537495 | E067 | -31445 |
chr3 | 179537787 | 179537923 | E067 | -31017 |
chr3 | 179537967 | 179538092 | E067 | -30848 |
chr3 | 179543804 | 179543898 | E067 | -25042 |
chr3 | 179544115 | 179544301 | E067 | -24639 |
chr3 | 179552701 | 179553468 | E067 | -15472 |
chr3 | 179599147 | 179599288 | E067 | 30207 |
chr3 | 179599744 | 179599839 | E067 | 30804 |
chr3 | 179600132 | 179600409 | E067 | 31192 |
chr3 | 179529118 | 179529795 | E068 | -39145 |
chr3 | 179537253 | 179537495 | E068 | -31445 |
chr3 | 179599744 | 179599839 | E068 | 30804 |
chr3 | 179600132 | 179600409 | E068 | 31192 |
chr3 | 179600440 | 179600558 | E068 | 31500 |
chr3 | 179600599 | 179600680 | E068 | 31659 |
chr3 | 179600786 | 179600863 | E068 | 31846 |
chr3 | 179529118 | 179529795 | E069 | -39145 |
chr3 | 179537253 | 179537495 | E069 | -31445 |
chr3 | 179537787 | 179537923 | E069 | -31017 |
chr3 | 179598773 | 179599003 | E069 | 29833 |
chr3 | 179599147 | 179599288 | E069 | 30207 |
chr3 | 179599744 | 179599839 | E069 | 30804 |
chr3 | 179600132 | 179600409 | E069 | 31192 |
chr3 | 179600440 | 179600558 | E069 | 31500 |
chr3 | 179600599 | 179600680 | E069 | 31659 |
chr3 | 179537253 | 179537495 | E070 | -31445 |
chr3 | 179537787 | 179537923 | E070 | -31017 |
chr3 | 179537967 | 179538092 | E070 | -30848 |
chr3 | 179599744 | 179599839 | E070 | 30804 |
chr3 | 179600132 | 179600409 | E070 | 31192 |
chr3 | 179529118 | 179529795 | E071 | -39145 |
chr3 | 179537787 | 179537923 | E071 | -31017 |
chr3 | 179537967 | 179538092 | E071 | -30848 |
chr3 | 179543804 | 179543898 | E071 | -25042 |
chr3 | 179544115 | 179544301 | E071 | -24639 |
chr3 | 179552701 | 179553468 | E071 | -15472 |
chr3 | 179598773 | 179599003 | E071 | 29833 |
chr3 | 179599147 | 179599288 | E071 | 30207 |
chr3 | 179599744 | 179599839 | E071 | 30804 |
chr3 | 179600132 | 179600409 | E071 | 31192 |
chr3 | 179600440 | 179600558 | E071 | 31500 |
chr3 | 179600599 | 179600680 | E071 | 31659 |
chr3 | 179600786 | 179600863 | E071 | 31846 |
chr3 | 179529118 | 179529795 | E072 | -39145 |
chr3 | 179537253 | 179537495 | E072 | -31445 |
chr3 | 179537787 | 179537923 | E072 | -31017 |
chr3 | 179537967 | 179538092 | E072 | -30848 |
chr3 | 179543804 | 179543898 | E072 | -25042 |
chr3 | 179544115 | 179544301 | E072 | -24639 |
chr3 | 179552701 | 179553468 | E072 | -15472 |
chr3 | 179599744 | 179599839 | E072 | 30804 |
chr3 | 179600132 | 179600409 | E072 | 31192 |
chr3 | 179600440 | 179600558 | E072 | 31500 |
chr3 | 179600599 | 179600680 | E072 | 31659 |
chr3 | 179600786 | 179600863 | E072 | 31846 |
chr3 | 179529118 | 179529795 | E074 | -39145 |
chr3 | 179537253 | 179537495 | E074 | -31445 |
chr3 | 179537787 | 179537923 | E074 | -31017 |
chr3 | 179537967 | 179538092 | E074 | -30848 |
chr3 | 179538787 | 179539319 | E074 | -29621 |
chr3 | 179543804 | 179543898 | E074 | -25042 |
chr3 | 179544115 | 179544301 | E074 | -24639 |
chr3 | 179552701 | 179553468 | E074 | -15472 |
chr3 | 179553911 | 179554080 | E074 | -14860 |
chr3 | 179598773 | 179599003 | E074 | 29833 |
chr3 | 179599147 | 179599288 | E074 | 30207 |
chr3 | 179599744 | 179599839 | E074 | 30804 |
chr3 | 179600132 | 179600409 | E074 | 31192 |
chr3 | 179600440 | 179600558 | E074 | 31500 |
chr3 | 179600599 | 179600680 | E074 | 31659 |
chr3 | 179600786 | 179600863 | E074 | 31846 |
chr3 | 179599744 | 179599839 | E082 | 30804 |
chr3 | 179600132 | 179600409 | E082 | 31192 |
chr3 | 179600440 | 179600558 | E082 | 31500 |
chr3 | 179600599 | 179600680 | E082 | 31659 |