rs2298307

Homo sapiens
T>C
BCKDHB : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0482 (14420/29916,GnomAD)
C=0484 (14097/29118,TOPMED)
T==0418 (2091/5008,1000G)
T==0499 (1924/3854,ALSPAC)
C=0490 (1818/3708,TWINSUK)
chr6:80106579 (GRCh38.p7) (6q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
41 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.80106579T>C
GRCh37.p13 chr 6NC_000006.11:g.80816296T>C
BCKDHB RefSeqGeneNG_009775.1:g.4953T>C

Gene: BCKDHB, branched chain keto acid dehydrogenase E1, beta polypeptide(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
BCKDHB transcript variant 2NM_000056.4:c.N/AUpstream Transcript Variant
BCKDHB transcript variant 3NM_001318975.1:c.N/AUpstream Transcript Variant
BCKDHB transcript variant 1NM_183050.3:c.N/AUpstream Transcript Variant
BCKDHB transcript variant 4NR_134945.1:n.N/AUpstream Transcript Variant
BCKDHB transcript variant X2XM_005248756.4:c.N/AUpstream Transcript Variant
BCKDHB transcript variant X5XM_011536023.2:c.N/AUpstream Transcript Variant
BCKDHB transcript variant X7XM_011536024.2:c.N/AUpstream Transcript Variant
BCKDHB transcript variant X8XM_011536025.2:c.N/AUpstream Transcript Variant
BCKDHB transcript variant X9XM_011536026.2:c.N/AN/A
BCKDHB transcript variant X1XR_001743546.1:n.N/AUpstream Transcript Variant
BCKDHB transcript variant X3XR_001743547.1:n.N/AUpstream Transcript Variant
BCKDHB transcript variant X4XR_001743548.1:n.N/AUpstream Transcript Variant
BCKDHB transcript variant X6XR_001743549.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.592C=0.408
1000GenomesAmericanSub694T=0.330C=0.670
1000GenomesEast AsianSub1008T=0.304C=0.696
1000GenomesEuropeSub1006T=0.483C=0.517
1000GenomesGlobalStudy-wide5008T=0.418C=0.582
1000GenomesSouth AsianSub978T=0.290C=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.499C=0.501
The Genome Aggregation DatabaseAfricanSub8716T=0.580C=0.420
The Genome Aggregation DatabaseAmericanSub834T=0.330C=0.670
The Genome Aggregation DatabaseEast AsianSub1612T=0.299C=0.701
The Genome Aggregation DatabaseEuropeSub18452T=0.517C=0.482
The Genome Aggregation DatabaseGlobalStudy-wide29916T=0.518C=0.482
The Genome Aggregation DatabaseOtherSub302T=0.450C=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.515C=0.484
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.510C=0.490
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22983070.00012alcohol dependence20201924
rs22983070.00012alcohol dependence(early age of onset)20201924

eQTL of rs2298307 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2298307 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr68081536380815467E067-829
chr68081734580817622E0671049
chr68085302180853694E06736725
chr68085455480854678E06738258
chr68085480880854908E06738512
chr68085495980855036E06738663
chr68081536380815467E068-829
chr68081734580817622E0681049
chr68084275980843044E06826463
chr68085288080852935E06836584
chr68085302180853694E06836725
chr68081536380815467E069-829
chr68081734580817622E0691049
chr68084275980843044E06926463
chr68085288080852935E06936584
chr68085302180853694E07036725
chr68081734580817622E0711049
chr68085302180853694E07136725
chr68085381380853863E07137517
chr68085402180854071E07137725
chr68085455480854678E07138258
chr68085480880854908E07138512
chr68085495980855036E07138663
chr68081734580817622E0721049
chr68085288080852935E07236584
chr68085302180853694E07236725
chr68085288080852935E07336584
chr68085302180853694E07336725
chr68081734580817622E0741049
chr68085455480854678E07438258
chr68085302180853694E08136725
chr68085455480854678E08138258
chr68085480880854908E08138512
chr68085495980855036E08138663
chr68081734580817622E0821049
chr68085302180853694E08236725
chr68085381380853863E08237517
chr68085402180854071E08237725
chr68085455480854678E08238258
chr68085480880854908E08238512
chr68085495980855036E08238663










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr68081586280816976E0670
chr68081586280816976E0680
chr68081710980817165E068813
chr68081586280816976E0690
chr68081586280816976E0700
chr68081586280816976E0710
chr68081710980817165E071813
chr68081586280816976E0720
chr68081710980817165E072813
chr68081586280816976E0730
chr68081710980817165E073813
chr68081586280816976E0740
chr68081710980817165E074813
chr68081586280816976E0810
chr68081586280816976E0820