rs942381

Homo sapiens
T>G
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0439 (13150/29898,GnomAD)
G=0425 (12397/29118,TOPMED)
T==0460 (2304/5008,1000G)
G=0493 (1899/3854,ALSPAC)
G=0485 (1800/3708,TWINSUK)
chr6:80170433 (GRCh38.p7) (6q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
55 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.80170433T>G
GRCh37.p13 chr 6NC_000006.11:g.80880150T>G
BCKDHB RefSeqGeneNG_009775.1:g.68807T>G

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=0.738G=0.262
1000GenomesAmericanSub694T=0.350G=0.650
1000GenomesEast AsianSub1008T=0.305G=0.695
1000GenomesEuropeSub1006T=0.492G=0.508
1000GenomesGlobalStudy-wide5008T=0.460G=0.540
1000GenomesSouth AsianSub978T=0.290G=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.507G=0.493
The Genome Aggregation DatabaseAfricanSub8710T=0.707G=0.293
The Genome Aggregation DatabaseAmericanSub834T=0.340G=0.660
The Genome Aggregation DatabaseEast AsianSub1606T=0.301G=0.699
The Genome Aggregation DatabaseEuropeSub18446T=0.525G=0.474
The Genome Aggregation DatabaseGlobalStudy-wide29898T=0.560G=0.439
The Genome Aggregation DatabaseOtherSub302T=0.460G=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.574G=0.425
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.515G=0.485
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
rs9423810.00012Alcohol dependence (early age of onset)20201924
rs9423810.00015alcohol dependence20201924

eQTL of rs942381 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 rs942381 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 )
chr68085302180853694E067-26456
chr68085455480854678E067-25472
chr68085480880854908E067-25242
chr68085495980855036E067-25114
chr68090717280907601E06727022
chr68090775380908046E06727603
chr68084275980843044E068-37106
chr68085288080852935E068-27215
chr68085302180853694E068-26456
chr68090717280907601E06827022
chr68090775380908046E06827603
chr68084275980843044E069-37106
chr68085288080852935E069-27215
chr68090717280907601E06927022
chr68090775380908046E06927603
chr68085302180853694E070-26456
chr68087123780871352E070-8798
chr68090668180906909E07026531
chr68090717280907601E07027022
chr68090775380908046E07027603
chr68090865580908764E07028505
chr68085302180853694E071-26456
chr68085381380853863E071-26287
chr68085402180854071E071-26079
chr68085455480854678E071-25472
chr68085480880854908E071-25242
chr68085495980855036E071-25114
chr68090717280907601E07127022
chr68090775380908046E07127603
chr68085288080852935E072-27215
chr68085302180853694E072-26456
chr68090717280907601E07227022
chr68085288080852935E073-27215
chr68085302180853694E073-26456
chr68090717280907601E07327022
chr68090775380908046E07327603
chr68085455480854678E074-25472
chr68090717280907601E07427022
chr68090775380908046E07427603
chr68085302180853694E081-26456
chr68085455480854678E081-25472
chr68085480880854908E081-25242
chr68085495980855036E081-25114
chr68090641980906527E08126269
chr68090717280907601E08127022
chr68090775380908046E08127603
chr68085302180853694E082-26456
chr68085381380853863E082-26287
chr68085402180854071E082-26079
chr68085455480854678E082-25472
chr68085480880854908E082-25242
chr68085495980855036E082-25114
chr68090668180906909E08226531
chr68090717280907601E08227022
chr68090775380908046E08227603