rs2322633

Homo sapiens
T>C
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0473 (14161/29892,GnomAD)
C=0469 (13684/29118,TOPMED)
T==0428 (2142/5008,1000G)
C=0500 (1926/3854,ALSPAC)
C=0489 (1815/3708,TWINSUK)
chr6:80136272 (GRCh38.p7) (6q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.80136272T>C
GRCh37.p13 chr 6NC_000006.11:g.80845989T>C
BCKDHB RefSeqGeneNG_009775.1:g.34646T>C

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

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.629C=0.371
1000GenomesAmericanSub694T=0.340C=0.660
1000GenomesEast AsianSub1008T=0.304C=0.696
1000GenomesEuropeSub1006T=0.485C=0.515
1000GenomesGlobalStudy-wide5008T=0.428C=0.572
1000GenomesSouth AsianSub978T=0.290C=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.500C=0.500
The Genome Aggregation DatabaseAfricanSub8706T=0.607C=0.393
The Genome Aggregation DatabaseAmericanSub834T=0.340C=0.660
The Genome Aggregation DatabaseEast AsianSub1602T=0.300C=0.700
The Genome Aggregation DatabaseEuropeSub18448T=0.517C=0.482
The Genome Aggregation DatabaseGlobalStudy-wide29892T=0.526C=0.473
The Genome Aggregation DatabaseOtherSub302T=0.450C=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.530C=0.469
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.511C=0.489
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
rs23226330.00012alcohol dependence(early age of onset)20201924
rs23226330.00014alcohol dependence20201924

eQTL of rs2322633 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 rs2322633 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 )
chr68081536380815467E067-30522
chr68081734580817622E067-28367
chr68085302180853694E0677032
chr68085455480854678E0678565
chr68085480880854908E0678819
chr68085495980855036E0678970
chr68081536380815467E068-30522
chr68081734580817622E068-28367
chr68084275980843044E068-2945
chr68085288080852935E0686891
chr68085302180853694E0687032
chr68081536380815467E069-30522
chr68081734580817622E069-28367
chr68084275980843044E069-2945
chr68085288080852935E0696891
chr68085302180853694E0707032
chr68087123780871352E07025248
chr68081734580817622E071-28367
chr68085302180853694E0717032
chr68085381380853863E0717824
chr68085402180854071E0718032
chr68085455480854678E0718565
chr68085480880854908E0718819
chr68085495980855036E0718970
chr68081734580817622E072-28367
chr68085288080852935E0726891
chr68085302180853694E0727032
chr68085288080852935E0736891
chr68085302180853694E0737032
chr68081734580817622E074-28367
chr68085455480854678E0748565
chr68085302180853694E0817032
chr68085455480854678E0818565
chr68085480880854908E0818819
chr68085495980855036E0818970
chr68081734580817622E082-28367
chr68085302180853694E0827032
chr68085381380853863E0827824
chr68085402180854071E0828032
chr68085455480854678E0828565
chr68085480880854908E0828819
chr68085495980855036E0828970










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr68081586280816976E067-29013
chr68081586280816976E068-29013
chr68081710980817165E068-28824
chr68081586280816976E069-29013
chr68081586280816976E070-29013
chr68081586280816976E071-29013
chr68081710980817165E071-28824
chr68081586280816976E072-29013
chr68081710980817165E072-28824
chr68081586280816976E073-29013
chr68081710980817165E073-28824
chr68081586280816976E074-29013
chr68081710980817165E074-28824
chr68081586280816976E081-29013
chr68081586280816976E082-29013