Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.92557593A>C |
GRCh37.p13 chr 1 | NC_000001.10:g.93023150A>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
EVI5 transcript variant 1 | NM_001308248.1:c. | N/A | Intron Variant |
EVI5 transcript variant 2 | NM_005665.5:c. | N/A | Intron Variant |
EVI5 transcript variant X1 | XM_017002269.1:c. | N/A | Intron Variant |
EVI5 transcript variant X2 | XM_017002270.1:c. | N/A | Intron Variant |
EVI5 transcript variant X3 | XM_017002271.1:c. | N/A | Intron Variant |
EVI5 transcript variant X4 | XM_017002272.1:c. | N/A | Intron Variant |
EVI5 transcript variant X5 | XM_017002273.1:c. | N/A | Intron Variant |
EVI5 transcript variant X6 | XM_017002274.1:c. | N/A | Intron Variant |
EVI5 transcript variant X7 | XM_017002275.1:c. | N/A | Intron Variant |
EVI5 transcript variant X8 | XM_017002276.1:c. | N/A | Intron Variant |
EVI5 transcript variant X10 | XM_017002277.1:c. | N/A | Intron Variant |
EVI5 transcript variant X11 | XM_017002278.1:c. | N/A | Intron Variant |
EVI5 transcript variant X12 | XM_017002279.1:c. | N/A | Intron Variant |
EVI5 transcript variant X12 | XM_017002280.1:c. | N/A | Intron Variant |
EVI5 transcript variant X13 | XM_017002281.1:c. | N/A | Intron Variant |
EVI5 transcript variant X16 | XM_017002282.1:c. | N/A | Intron Variant |
EVI5 transcript variant X17 | XM_017002283.1:c. | N/A | Intron Variant |
EVI5 transcript variant X16 | XM_017002284.1:c. | N/A | Intron Variant |
EVI5 transcript variant X17 | XM_017002285.1:c. | N/A | Intron Variant |
EVI5 transcript variant X18 | XM_017002286.1:c. | N/A | Intron Variant |
EVI5 transcript variant X19 | XM_017002287.1:c. | N/A | Intron Variant |
EVI5 transcript variant X21 | XM_017002288.1:c. | N/A | Intron Variant |
EVI5 transcript variant X22 | XR_001737401.1:n. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | A=0.051 | C=0.949 |
1000Genomes | American | Sub | 694 | A=0.110 | C=0.890 |
1000Genomes | East Asian | Sub | 1008 | A=0.025 | C=0.975 |
1000Genomes | Europe | Sub | 1006 | A=0.193 | C=0.807 |
1000Genomes | Global | Study-wide | 5008 | A=0.080 | C=0.920 |
1000Genomes | South Asian | Sub | 978 | A=0.040 | C=0.960 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.209 | C=0.791 |
The Genome Aggregation Database | African | Sub | 8730 | A=0.075 | C=0.925 |
The Genome Aggregation Database | American | Sub | 836 | A=0.090 | C=0.910 |
The Genome Aggregation Database | East Asian | Sub | 1622 | A=0.035 | C=0.965 |
The Genome Aggregation Database | Europe | Sub | 18444 | A=0.196 | C=0.803 |
The Genome Aggregation Database | Global | Study-wide | 29934 | A=0.148 | C=0.851 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.090 | C=0.910 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.133 | C=0.866 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.206 | C=0.794 |
PMID | Title | Author | Journal |
---|---|---|---|
23953852 | Genome-wide association studies of maximum number of drinks. | Pan Y | J Psychiatr Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs4847377 | 5.43E-05 | alcohol consumption | 23953852 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr1:93023150 | EVI5 | ENSG00000067208.10 | A>C | 3.7726e-3 | -234811 | Hippocampus |
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 ) |
---|---|---|---|---|
chr1 | 93042933 | 93043029 | E069 | 19783 |
chr1 | 93043166 | 93043387 | E069 | 20016 |
chr1 | 93017256 | 93017506 | E071 | -5644 |
chr1 | 93017256 | 93017506 | E082 | -5644 |