Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 6 | NC_000006.12:g.80302888G>T |
GRCh37.p13 chr 6 | NC_000006.11:g.81012605G>T |
BCKDHB RefSeqGene | NG_009775.1:g.201262G>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
BCKDHB transcript variant 2 | NM_000056.4:c. | N/A | Intron Variant |
BCKDHB transcript variant 3 | NM_001318975.1:c. | N/A | Intron Variant |
BCKDHB transcript variant 1 | NM_183050.3:c. | N/A | Intron Variant |
BCKDHB transcript variant 4 | NR_134945.1:n. | N/A | Intron Variant |
BCKDHB transcript variant X2 | XM_005248756.4:c. | N/A | Intron Variant |
BCKDHB transcript variant X7 | XM_011536024.2:c. | N/A | Intron Variant |
BCKDHB transcript variant X9 | XM_011536026.2:c. | N/A | Intron Variant |
BCKDHB transcript variant X5 | XM_011536023.2:c. | N/A | Genic Downstream Transcript Variant |
BCKDHB transcript variant X8 | XM_011536025.2:c. | N/A | Genic Downstream Transcript Variant |
BCKDHB transcript variant X1 | XR_001743546.1:n. | N/A | Intron Variant |
BCKDHB transcript variant X3 | XR_001743547.1:n. | N/A | Intron Variant |
BCKDHB transcript variant X4 | XR_001743548.1:n. | N/A | Intron Variant |
BCKDHB transcript variant X6 | XR_001743549.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.893 | T=0.107 |
1000Genomes | American | Sub | 694 | G=0.380 | T=0.620 |
1000Genomes | East Asian | Sub | 1008 | G=0.454 | T=0.546 |
1000Genomes | Europe | Sub | 1006 | G=0.533 | T=0.467 |
1000Genomes | Global | Study-wide | 5008 | G=0.599 | T=0.401 |
1000Genomes | South Asian | Sub | 978 | G=0.580 | T=0.420 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.540 | T=0.460 |
The Genome Aggregation Database | African | Sub | 8714 | G=0.841 | T=0.159 |
The Genome Aggregation Database | American | Sub | 834 | G=0.380 | T=0.620 |
The Genome Aggregation Database | East Asian | Sub | 1612 | G=0.440 | T=0.560 |
The Genome Aggregation Database | Europe | Sub | 18424 | G=0.552 | T=0.447 |
The Genome Aggregation Database | Global | Study-wide | 29886 | G=0.625 | T=0.374 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.500 | T=0.500 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.664 | T=0.335 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.552 | T=0.448 |
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 |
---|---|---|---|
rs4706834 | 0.00012 | Alcohol dependence (early age of onset) | 20201924 |
rs4706834 | 0.00015 | 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 ) |
---|---|---|---|---|
chr6 | 80964352 | 80964402 | E067 | -48203 |
chr6 | 80964487 | 80964643 | E067 | -47962 |
chr6 | 80978330 | 80978551 | E067 | -34054 |
chr6 | 80978966 | 80979066 | E067 | -33539 |
chr6 | 80977692 | 80977816 | E068 | -34789 |
chr6 | 81026286 | 81026914 | E068 | 13681 |
chr6 | 81041288 | 81041615 | E068 | 28683 |
chr6 | 81041839 | 81042016 | E068 | 29234 |
chr6 | 81041288 | 81041615 | E070 | 28683 |
chr6 | 81041839 | 81042016 | E070 | 29234 |
chr6 | 81043216 | 81043309 | E070 | 30611 |
chr6 | 80964352 | 80964402 | E071 | -48203 |
chr6 | 80964487 | 80964643 | E071 | -47962 |
chr6 | 81026286 | 81026914 | E071 | 13681 |
chr6 | 81039303 | 81039529 | E071 | 26698 |
chr6 | 81039535 | 81039699 | E071 | 26930 |
chr6 | 81045264 | 81045477 | E071 | 32659 |
chr6 | 80964352 | 80964402 | E072 | -48203 |
chr6 | 80964487 | 80964643 | E072 | -47962 |
chr6 | 81026286 | 81026914 | E072 | 13681 |
chr6 | 81038487 | 81038594 | E072 | 25882 |
chr6 | 80964352 | 80964402 | E074 | -48203 |
chr6 | 80978330 | 80978551 | E074 | -34054 |
chr6 | 81039303 | 81039529 | E074 | 26698 |
chr6 | 81039535 | 81039699 | E074 | 26930 |
chr6 | 80986310 | 80986364 | E082 | -26241 |
chr6 | 80986677 | 80986794 | E082 | -25811 |
chr6 | 81041288 | 81041615 | E082 | 28683 |
chr6 | 81041839 | 81042016 | E082 | 29234 |
chr6 | 81043216 | 81043309 | E082 | 30611 |
chr6 | 81044101 | 81044184 | E082 | 31496 |
chr6 | 81044259 | 81044498 | E082 | 31654 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr6 | 81044665 | 81044950 | E068 | 32060 |
chr6 | 81044665 | 81044950 | E071 | 32060 |