Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 6 | NC_000006.12:g.80316162T>G |
GRCh37.p13 chr 6 | NC_000006.11:g.81025879T>G |
BCKDHB RefSeqGene | NG_009775.1:g.214536T>G |
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 X7 | XM_011536024.2:c. | N/A | Intron Variant |
BCKDHB transcript variant X9 | XM_011536026.2:c. | N/A | Intron Variant |
BCKDHB transcript variant X2 | XM_005248756.4:c. | N/A | Genic Downstream Transcript 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 | T=0.788 | G=0.212 |
1000Genomes | American | Sub | 694 | T=0.370 | G=0.630 |
1000Genomes | East Asian | Sub | 1008 | T=0.447 | G=0.553 |
1000Genomes | Europe | Sub | 1006 | T=0.532 | G=0.468 |
1000Genomes | Global | Study-wide | 5008 | T=0.570 | G=0.430 |
1000Genomes | South Asian | Sub | 978 | T=0.580 | G=0.420 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.537 | G=0.463 |
The Genome Aggregation Database | African | Sub | 8708 | T=0.757 | G=0.243 |
The Genome Aggregation Database | American | Sub | 838 | T=0.370 | G=0.630 |
The Genome Aggregation Database | East Asian | Sub | 1606 | T=0.435 | G=0.565 |
The Genome Aggregation Database | Europe | Sub | 18466 | T=0.552 | G=0.447 |
The Genome Aggregation Database | Global | Study-wide | 29920 | T=0.600 | G=0.399 |
The Genome Aggregation Database | Other | Sub | 302 | T=0.490 | G=0.510 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | T=0.626 | G=0.373 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.552 | G=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 |
---|---|---|---|
rs9352817 | 0.000082 | alcohol dependence | 20201924 |
rs9352817 | 0.0000823 | alcoholism | pha002893 |
rs9352817 | 0.000089 | alcohol dependence(early age of onset) | 20201924 |
rs9352817 | 0.0000891 | alcoholism | pha002892 |
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 | 80978330 | 80978551 | E067 | -47328 |
chr6 | 80978966 | 80979066 | E067 | -46813 |
chr6 | 80977692 | 80977816 | E068 | -48063 |
chr6 | 81026286 | 81026914 | E068 | 407 |
chr6 | 81041288 | 81041615 | E068 | 15409 |
chr6 | 81041839 | 81042016 | E068 | 15960 |
chr6 | 81065763 | 81065968 | E068 | 39884 |
chr6 | 81071372 | 81071603 | E069 | 45493 |
chr6 | 81041288 | 81041615 | E070 | 15409 |
chr6 | 81041839 | 81042016 | E070 | 15960 |
chr6 | 81043216 | 81043309 | E070 | 17337 |
chr6 | 81026286 | 81026914 | E071 | 407 |
chr6 | 81039303 | 81039529 | E071 | 13424 |
chr6 | 81039535 | 81039699 | E071 | 13656 |
chr6 | 81045264 | 81045477 | E071 | 19385 |
chr6 | 81026286 | 81026914 | E072 | 407 |
chr6 | 81038487 | 81038594 | E072 | 12608 |
chr6 | 80978330 | 80978551 | E074 | -47328 |
chr6 | 81039303 | 81039529 | E074 | 13424 |
chr6 | 81039535 | 81039699 | E074 | 13656 |
chr6 | 80986310 | 80986364 | E082 | -39515 |
chr6 | 80986677 | 80986794 | E082 | -39085 |
chr6 | 81041288 | 81041615 | E082 | 15409 |
chr6 | 81041839 | 81042016 | E082 | 15960 |
chr6 | 81043216 | 81043309 | E082 | 17337 |
chr6 | 81044101 | 81044184 | E082 | 18222 |
chr6 | 81044259 | 81044498 | E082 | 18380 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr6 | 81044665 | 81044950 | E068 | 18786 |
chr6 | 81044665 | 81044950 | E071 | 18786 |