rs2322631

Homo sapiens
A>C
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0355 (10644/29928,GnomAD)
C=0311 (9063/29118,TOPMED)
C=0388 (1943/5008,1000G)
C=0453 (1744/3854,ALSPAC)
C=0439 (1628/3708,TWINSUK)
chr6:80134239 (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.80134239A>C
GRCh37.p13 chr 6NC_000006.11:g.80843956A>C
BCKDHB RefSeqGeneNG_009775.1:g.32613A>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
1000GenomesAfricanSub1322A=0.939C=0.061
1000GenomesAmericanSub694A=0.380C=0.620
1000GenomesEast AsianSub1008A=0.444C=0.556
1000GenomesEuropeSub1006A=0.537C=0.463
1000GenomesGlobalStudy-wide5008A=0.612C=0.388
1000GenomesSouth AsianSub978A=0.580C=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.547C=0.453
The Genome Aggregation DatabaseAfricanSub8718A=0.883C=0.117
The Genome Aggregation DatabaseAmericanSub838A=0.380C=0.620
The Genome Aggregation DatabaseEast AsianSub1606A=0.442C=0.558
The Genome Aggregation DatabaseEuropeSub18464A=0.563C=0.436
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.644C=0.355
The Genome Aggregation DatabaseOtherSub302A=0.500C=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.688C=0.311
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.561C=0.439
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
rs23226310.0000041alcohol dependence20201924
rs23226310.00000413alcoholismpha002893
rs23226310.00000967alcoholismpha002892
rs23226310.0000097alcohol dependence(early age of onset)20201924

eQTL of rs2322631 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:80843956RP11-250B2.5ENSG00000260645.1A>C4.8851e-3-332719Cerebellum
Chr6:80843956BCKDHBENSG00000083123.10A>C5.9656e-327592Caudate_basal_ganglia

meQTL of rs2322631 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 )
chr68081536380815467E067-28489
chr68081734580817622E067-26334
chr68085302180853694E0679065
chr68085455480854678E06710598
chr68085480880854908E06710852
chr68085495980855036E06711003
chr68081536380815467E068-28489
chr68081734580817622E068-26334
chr68084275980843044E068-912
chr68085288080852935E0688924
chr68085302180853694E0689065
chr68081536380815467E069-28489
chr68081734580817622E069-26334
chr68084275980843044E069-912
chr68085288080852935E0698924
chr68085302180853694E0709065
chr68087123780871352E07027281
chr68081734580817622E071-26334
chr68085302180853694E0719065
chr68085381380853863E0719857
chr68085402180854071E07110065
chr68085455480854678E07110598
chr68085480880854908E07110852
chr68085495980855036E07111003
chr68081734580817622E072-26334
chr68085288080852935E0728924
chr68085302180853694E0729065
chr68085288080852935E0738924
chr68085302180853694E0739065
chr68081734580817622E074-26334
chr68085455480854678E07410598
chr68085302180853694E0819065
chr68085455480854678E08110598
chr68085480880854908E08110852
chr68085495980855036E08111003
chr68081734580817622E082-26334
chr68085302180853694E0829065
chr68085381380853863E0829857
chr68085402180854071E08210065
chr68085455480854678E08210598
chr68085480880854908E08210852
chr68085495980855036E08211003










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr68081586280816976E067-26980
chr68081586280816976E068-26980
chr68081710980817165E068-26791
chr68081586280816976E069-26980
chr68081586280816976E070-26980
chr68081586280816976E071-26980
chr68081710980817165E071-26791
chr68081586280816976E072-26980
chr68081710980817165E072-26791
chr68081586280816976E073-26980
chr68081710980817165E073-26791
chr68081586280816976E074-26980
chr68081710980817165E074-26791
chr68081586280816976E081-26980
chr68081586280816976E082-26980