rs10080237

Homo sapiens
T>C
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0355 (10606/29872,GnomAD)
C=0311 (9068/29118,TOPMED)
C=0389 (1946/5008,1000G)
C=0453 (1746/3854,ALSPAC)
C=0440 (1631/3708,TWINSUK)
chr6:80144753 (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.80144753T>C
GRCh37.p13 chr 6NC_000006.11:g.80854470T>C
BCKDHB RefSeqGeneNG_009775.1:g.43127T>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=0.936C=0.064
1000GenomesAmericanSub694T=0.380C=0.620
1000GenomesEast AsianSub1008T=0.444C=0.556
1000GenomesEuropeSub1006T=0.537C=0.463
1000GenomesGlobalStudy-wide5008T=0.611C=0.389
1000GenomesSouth AsianSub978T=0.580C=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.547C=0.453
The Genome Aggregation DatabaseAfricanSub8714T=0.883C=0.117
The Genome Aggregation DatabaseAmericanSub836T=0.380C=0.620
The Genome Aggregation DatabaseEast AsianSub1590T=0.441C=0.559
The Genome Aggregation DatabaseEuropeSub18430T=0.564C=0.435
The Genome Aggregation DatabaseGlobalStudy-wide29872T=0.645C=0.355
The Genome Aggregation DatabaseOtherSub302T=0.500C=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.688C=0.311
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.560C=0.440
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
rs100802370.0000041alcohol dependence20201924
rs100802370.00000413alcoholismpha002893
rs100802370.00000967alcoholismpha002892
rs100802370.0000097alcohol dependence(early age of onset)20201924

eQTL of rs10080237 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:80854470RP11-250B2.5ENSG00000260645.1T>C4.8851e-3-322205Cerebellum
Chr6:80854470BCKDHBENSG00000083123.10T>C5.9656e-338106Caudate_basal_ganglia

meQTL of rs10080237 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 )
chr68081536380815467E067-39003
chr68081734580817622E067-36848
chr68085302180853694E067-776
chr68085455480854678E06784
chr68085480880854908E067338
chr68085495980855036E067489
chr68081536380815467E068-39003
chr68081734580817622E068-36848
chr68084275980843044E068-11426
chr68085288080852935E068-1535
chr68085302180853694E068-776
chr68081536380815467E069-39003
chr68081734580817622E069-36848
chr68084275980843044E069-11426
chr68085288080852935E069-1535
chr68085302180853694E070-776
chr68087123780871352E07016767
chr68081734580817622E071-36848
chr68085302180853694E071-776
chr68085381380853863E071-607
chr68085402180854071E071-399
chr68085455480854678E07184
chr68085480880854908E071338
chr68085495980855036E071489
chr68081734580817622E072-36848
chr68085288080852935E072-1535
chr68085302180853694E072-776
chr68085288080852935E073-1535
chr68085302180853694E073-776
chr68081734580817622E074-36848
chr68085455480854678E07484
chr68085302180853694E081-776
chr68085455480854678E08184
chr68085480880854908E081338
chr68085495980855036E081489
chr68081734580817622E082-36848
chr68085302180853694E082-776
chr68085381380853863E082-607
chr68085402180854071E082-399
chr68085455480854678E08284
chr68085480880854908E082338
chr68085495980855036E082489










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr68081586280816976E067-37494
chr68081586280816976E068-37494
chr68081710980817165E068-37305
chr68081586280816976E069-37494
chr68081586280816976E070-37494
chr68081586280816976E071-37494
chr68081710980817165E071-37305
chr68081586280816976E072-37494
chr68081710980817165E072-37305
chr68081586280816976E073-37494
chr68081710980817165E073-37305
chr68081586280816976E074-37494
chr68081710980817165E074-37305
chr68081586280816976E081-37494
chr68081586280816976E082-37494