Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 5 | NC_000005.10:g.159035468C>T |
GRCh37.p13 chr 5 | NC_000005.9:g.158462476C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
EBF1 transcript variant 1 | NM_001290360.2:c. | N/A | Intron Variant |
EBF1 transcript variant 4 | NM_001324101.1:c. | N/A | Intron Variant |
EBF1 transcript variant 5 | NM_001324103.1:c. | N/A | Intron Variant |
EBF1 transcript variant 6 | NM_001324106.1:c. | N/A | Intron Variant |
EBF1 transcript variant 7 | NM_001324107.1:c. | N/A | Intron Variant |
EBF1 transcript variant 8 | NM_001324108.1:c. | N/A | Intron Variant |
EBF1 transcript variant 9 | NM_001324109.1:c. | N/A | Intron Variant |
EBF1 transcript variant 10 | NM_001324111.1:c. | N/A | Intron Variant |
EBF1 transcript variant 2 | NM_024007.4:c. | N/A | Intron Variant |
EBF1 transcript variant 3 | NM_182708.2:c. | N/A | Intron Variant |
EBF1 transcript variant X1 | XM_017009192.1:c. | N/A | Intron Variant |
EBF1 transcript variant X2 | XM_017009193.1:c. | N/A | Intron Variant |
EBF1 transcript variant X3 | XM_017009194.1:c. | N/A | Intron Variant |
EBF1 transcript variant X4 | XM_017009195.1:c. | N/A | Intron Variant |
EBF1 transcript variant X5 | XM_017009196.1:c. | N/A | Intron Variant |
EBF1 transcript variant X6 | XM_017009197.1:c. | N/A | Intron Variant |
EBF1 transcript variant X7 | XM_017009198.1:c. | N/A | Intron Variant |
EBF1 transcript variant X9 | XM_017009200.1:c. | N/A | Intron Variant |
EBF1 transcript variant X10 | XM_017009201.1:c. | N/A | Intron Variant |
EBF1 transcript variant X17 | XM_017009202.1:c. | N/A | Intron Variant |
EBF1 transcript variant X18 | XM_017009203.1:c. | N/A | Intron Variant |
EBF1 transcript variant X14 | XM_017009199.1:c. | N/A | Genic Upstream Transcript Variant |
EBF1 transcript variant X19 | XM_017009204.1:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.887 | T=0.113 |
1000Genomes | American | Sub | 694 | C=0.950 | T=0.050 |
1000Genomes | East Asian | Sub | 1008 | C=0.919 | T=0.081 |
1000Genomes | Europe | Sub | 1006 | C=0.935 | T=0.065 |
1000Genomes | Global | Study-wide | 5008 | C=0.918 | T=0.082 |
1000Genomes | South Asian | Sub | 978 | C=0.920 | T=0.080 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.936 | T=0.064 |
The Genome Aggregation Database | African | Sub | 8702 | C=0.893 | T=0.107 |
The Genome Aggregation Database | American | Sub | 836 | C=0.940 | T=0.060 |
The Genome Aggregation Database | East Asian | Sub | 1616 | C=0.912 | T=0.088 |
The Genome Aggregation Database | Europe | Sub | 18474 | C=0.935 | T=0.064 |
The Genome Aggregation Database | Global | Study-wide | 29930 | C=0.922 | T=0.078 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.920 | T=0.080 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.912 | T=0.087 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.933 | T=0.067 |
PMID | Title | Author | Journal |
---|---|---|---|
20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs13174549 | 0.00063 | alcohol dependence | 20201924 |
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 ) |
---|---|---|---|---|
chr5 | 158448249 | 158448463 | E069 | -14013 |
chr5 | 158448514 | 158449775 | E069 | -12701 |
chr5 | 158488922 | 158489571 | E069 | 26446 |
chr5 | 158424597 | 158424647 | E070 | -37829 |
chr5 | 158448514 | 158449775 | E070 | -12701 |
chr5 | 158438661 | 158438834 | E071 | -23642 |
chr5 | 158448249 | 158448463 | E071 | -14013 |
chr5 | 158488922 | 158489571 | E071 | 26446 |
chr5 | 158429036 | 158429191 | E073 | -33285 |
chr5 | 158429253 | 158429475 | E073 | -33001 |
chr5 | 158448514 | 158449775 | E073 | -12701 |
chr5 | 158488922 | 158489571 | E073 | 26446 |
chr5 | 158427009 | 158427147 | E081 | -35329 |
chr5 | 158445959 | 158446139 | E081 | -16337 |
chr5 | 158446180 | 158446278 | E081 | -16198 |
chr5 | 158448249 | 158448463 | E081 | -14013 |
chr5 | 158448514 | 158449775 | E081 | -12701 |
chr5 | 158447447 | 158447615 | E082 | -14861 |
chr5 | 158448249 | 158448463 | E082 | -14013 |
chr5 | 158448514 | 158449775 | E082 | -12701 |
chr5 | 158509399 | 158509566 | E082 | 46923 |
chr5 | 158509590 | 158509706 | E082 | 47114 |