Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 6 | NC_000006.12:g.80214928A>G |
GRCh37.p13 chr 6 | NC_000006.11:g.80924645A>G |
BCKDHB RefSeqGene | NG_009775.1:g.113302A>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 X2 | XM_005248756.4:c. | N/A | Intron Variant |
BCKDHB transcript variant X5 | XM_011536023.2:c. | N/A | Intron Variant |
BCKDHB transcript variant X7 | XM_011536024.2:c. | N/A | Intron Variant |
BCKDHB transcript variant X8 | XM_011536025.2:c. | N/A | Intron Variant |
BCKDHB transcript variant X9 | XM_011536026.2:c. | N/A | Intron 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 | A=0.822 | G=0.178 |
1000Genomes | American | Sub | 694 | A=0.360 | G=0.640 |
1000Genomes | East Asian | Sub | 1008 | A=0.305 | G=0.695 |
1000Genomes | Europe | Sub | 1006 | A=0.495 | G=0.505 |
1000Genomes | Global | Study-wide | 5008 | A=0.484 | G=0.516 |
1000Genomes | South Asian | Sub | 978 | A=0.290 | G=0.710 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.504 | G=0.496 |
The Genome Aggregation Database | African | Sub | 8710 | A=0.776 | G=0.224 |
The Genome Aggregation Database | American | Sub | 832 | A=0.340 | G=0.660 |
The Genome Aggregation Database | East Asian | Sub | 1620 | A=0.301 | G=0.699 |
The Genome Aggregation Database | Europe | Sub | 18454 | A=0.524 | G=0.475 |
The Genome Aggregation Database | Global | Study-wide | 29918 | A=0.580 | G=0.419 |
The Genome Aggregation Database | Other | Sub | 302 | A=0.460 | G=0.540 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.608 | G=0.391 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.515 | G=0.485 |
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 |
---|---|---|---|
rs9343974 | 0.00014 | alcohol dependence(early age of onset) | 20201924 |
rs9343974 | 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 | 80907172 | 80907601 | E067 | -17044 |
chr6 | 80907753 | 80908046 | E067 | -16599 |
chr6 | 80964352 | 80964402 | E067 | 39707 |
chr6 | 80964487 | 80964643 | E067 | 39842 |
chr6 | 80907172 | 80907601 | E068 | -17044 |
chr6 | 80907753 | 80908046 | E068 | -16599 |
chr6 | 80907172 | 80907601 | E069 | -17044 |
chr6 | 80907753 | 80908046 | E069 | -16599 |
chr6 | 80906681 | 80906909 | E070 | -17736 |
chr6 | 80907172 | 80907601 | E070 | -17044 |
chr6 | 80907753 | 80908046 | E070 | -16599 |
chr6 | 80908655 | 80908764 | E070 | -15881 |
chr6 | 80907172 | 80907601 | E071 | -17044 |
chr6 | 80907753 | 80908046 | E071 | -16599 |
chr6 | 80956829 | 80957013 | E071 | 32184 |
chr6 | 80957369 | 80957551 | E071 | 32724 |
chr6 | 80964352 | 80964402 | E071 | 39707 |
chr6 | 80964487 | 80964643 | E071 | 39842 |
chr6 | 80907172 | 80907601 | E072 | -17044 |
chr6 | 80964352 | 80964402 | E072 | 39707 |
chr6 | 80964487 | 80964643 | E072 | 39842 |
chr6 | 80907172 | 80907601 | E073 | -17044 |
chr6 | 80907753 | 80908046 | E073 | -16599 |
chr6 | 80907172 | 80907601 | E074 | -17044 |
chr6 | 80907753 | 80908046 | E074 | -16599 |
chr6 | 80956829 | 80957013 | E074 | 32184 |
chr6 | 80957369 | 80957551 | E074 | 32724 |
chr6 | 80964352 | 80964402 | E074 | 39707 |
chr6 | 80906419 | 80906527 | E081 | -18118 |
chr6 | 80907172 | 80907601 | E081 | -17044 |
chr6 | 80907753 | 80908046 | E081 | -16599 |
chr6 | 80906681 | 80906909 | E082 | -17736 |
chr6 | 80907172 | 80907601 | E082 | -17044 |
chr6 | 80907753 | 80908046 | E082 | -16599 |