rs10455370

Homo sapiens
C>T
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0396 (11870/29920,GnomAD)
T=0345 (10073/29118,TOPMED)
T=0402 (2014/5008,1000G)
C==0481 (1852/3854,ALSPAC)
C==0490 (1816/3708,TWINSUK)
chr6:80331150 (GRCh38.p7) (6q14.1)
AD
GWASdb2
2   publication(s)
See rs on genome
21 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.80331150C>T
GRCh37.p13 chr 6NC_000006.11:g.81040867C>T
BCKDHB RefSeqGeneNG_009775.1:g.229524C>T

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 X7XM_011536024.2:c.N/AIntron Variant
BCKDHB transcript variant X9XM_011536026.2:c.N/AIntron Variant
BCKDHB transcript variant X2XM_005248756.4:c.N/AGenic Downstream Transcript Variant
BCKDHB transcript variant X5XM_011536023.2:c.N/AGenic Downstream Transcript Variant
BCKDHB transcript variant X8XM_011536025.2:c.N/AGenic Downstream Transcript 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
1000GenomesAfricanSub1322C=0.944T=0.056
1000GenomesAmericanSub694C=0.360T=0.640
1000GenomesEast AsianSub1008C=0.472T=0.528
1000GenomesEuropeSub1006C=0.482T=0.518
1000GenomesGlobalStudy-wide5008C=0.598T=0.402
1000GenomesSouth AsianSub978C=0.550T=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.481T=0.519
The Genome Aggregation DatabaseAfricanSub8726C=0.883T=0.117
The Genome Aggregation DatabaseAmericanSub836C=0.360T=0.640
The Genome Aggregation DatabaseEast AsianSub1610C=0.467T=0.533
The Genome Aggregation DatabaseEuropeSub18446C=0.496T=0.503
The Genome Aggregation DatabaseGlobalStudy-wide29920C=0.603T=0.396
The Genome Aggregation DatabaseOtherSub302C=0.410T=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.654T=0.345
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.490T=0.510
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21302341Replicated genome wide association for dependence on illegal substances: genomic regions identified by overlapping clusters of nominally positive SNPs.Drgon TAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs104553700.00077alcohol dependence20201924

eQTL of rs10455370 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 rs10455370 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 )
chr68102628681026914E068-13953
chr68104128881041615E068421
chr68104183981042016E068972
chr68106576381065968E06824896
chr68107137281071603E06930505
chr68104128881041615E070421
chr68104183981042016E070972
chr68104321681043309E0702349
chr68102628681026914E071-13953
chr68103930381039529E071-1338
chr68103953581039699E071-1168
chr68104526481045477E0714397
chr68102628681026914E072-13953
chr68103848781038594E072-2273
chr68103930381039529E074-1338
chr68103953581039699E074-1168
chr68104128881041615E082421
chr68104183981042016E082972
chr68104321681043309E0822349
chr68104410181044184E0823234
chr68104425981044498E0823392







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr68104466581044950E0683798
chr68104466581044950E0713798