Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 1 | NC_000001.11:g.92527070G>A |
GRCh38.p7 chr 1 | NC_000001.11:g.92527070G>C |
GRCh37.p13 chr 1 | NC_000001.10:g.92992627G>A |
GRCh37.p13 chr 1 | NC_000001.10:g.92992627G>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 | G=0.051 | A=0.949 |
1000Genomes | American | Sub | 694 | G=0.110 | A=0.890 |
1000Genomes | East Asian | Sub | 1008 | G=0.025 | A=0.975 |
1000Genomes | Europe | Sub | 1006 | G=0.193 | A=0.807 |
1000Genomes | Global | Study-wide | 5008 | G=0.080 | A=0.920 |
1000Genomes | South Asian | Sub | 978 | G=0.040 | A=0.960 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.209 | A=0.791 |
The Genome Aggregation Database | African | Sub | 8712 | G=0.075 | A=0.925 |
The Genome Aggregation Database | American | Sub | 838 | G=0.090 | A=0.910 |
The Genome Aggregation Database | East Asian | Sub | 1620 | G=0.035 | A=0.965 |
The Genome Aggregation Database | Europe | Sub | 18442 | G=0.196 | A=0.803 |
The Genome Aggregation Database | Global | Study-wide | 29914 | G=0.148 | A=0.851 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.090 | A=0.910 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.133 | A=0.866 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.206 | A=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 |
---|---|---|---|
rs1408916 | 5.2E-05 | alcohol consumption | 23953852 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr1:92992627 | EVI5 | ENSG00000067208.10 | G>A | 3.7726e-3 | -265334 | 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 | 179553076 | 179553189 | E070 | -13094 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr1 | 179555187 | 179555994 | E067 | -10289 |
chr1 | 179555187 | 179555994 | E068 | -10289 |
chr1 | 179560610 | 179561210 | E068 | -5073 |
chr1 | 179561345 | 179561526 | E068 | -4757 |
chr1 | 179555187 | 179555994 | E069 | -10289 |
chr1 | 179544596 | 179544720 | E070 | -21563 |
chr1 | 179544739 | 179545058 | E070 | -21225 |
chr1 | 179545099 | 179545388 | E070 | -20895 |
chr1 | 179555187 | 179555994 | E070 | -10289 |
chr1 | 179555187 | 179555994 | E071 | -10289 |
chr1 | 179555187 | 179555994 | E072 | -10289 |
chr1 | 179560610 | 179561210 | E072 | -5073 |
chr1 | 179561345 | 179561526 | E072 | -4757 |
chr1 | 179555187 | 179555994 | E073 | -10289 |
chr1 | 179555187 | 179555994 | E074 | -10289 |
chr1 | 179544739 | 179545058 | E082 | -21225 |
chr1 | 179545099 | 179545388 | E082 | -20895 |
chr1 | 179555187 | 179555994 | E082 | -10289 |
chr1 | 179560610 | 179561210 | E082 | -5073 |
chr1 | 179561345 | 179561526 | E082 | -4757 |