rs4706834

Homo sapiens
G>T
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0374 (11198/29886,GnomAD)
T=0335 (9770/29118,TOPMED)
T=0401 (2006/5008,1000G)
T=0460 (1774/3854,ALSPAC)
T=0448 (1661/3708,TWINSUK)
chr6:80302888 (GRCh38.p7) (6q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.80302888G>T
GRCh37.p13 chr 6NC_000006.11:g.81012605G>T
BCKDHB RefSeqGeneNG_009775.1:g.201262G>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 X2XM_005248756.4:c.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 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
1000GenomesAfricanSub1322G=0.893T=0.107
1000GenomesAmericanSub694G=0.380T=0.620
1000GenomesEast AsianSub1008G=0.454T=0.546
1000GenomesEuropeSub1006G=0.533T=0.467
1000GenomesGlobalStudy-wide5008G=0.599T=0.401
1000GenomesSouth AsianSub978G=0.580T=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.540T=0.460
The Genome Aggregation DatabaseAfricanSub8714G=0.841T=0.159
The Genome Aggregation DatabaseAmericanSub834G=0.380T=0.620
The Genome Aggregation DatabaseEast AsianSub1612G=0.440T=0.560
The Genome Aggregation DatabaseEuropeSub18424G=0.552T=0.447
The Genome Aggregation DatabaseGlobalStudy-wide29886G=0.625T=0.374
The Genome Aggregation DatabaseOtherSub302G=0.500T=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.664T=0.335
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.552T=0.448
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
rs47068340.00012Alcohol dependence (early age of onset)20201924
rs47068340.00015alcohol dependence20201924

eQTL of rs4706834 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 rs4706834 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 )
chr68096435280964402E067-48203
chr68096448780964643E067-47962
chr68097833080978551E067-34054
chr68097896680979066E067-33539
chr68097769280977816E068-34789
chr68102628681026914E06813681
chr68104128881041615E06828683
chr68104183981042016E06829234
chr68104128881041615E07028683
chr68104183981042016E07029234
chr68104321681043309E07030611
chr68096435280964402E071-48203
chr68096448780964643E071-47962
chr68102628681026914E07113681
chr68103930381039529E07126698
chr68103953581039699E07126930
chr68104526481045477E07132659
chr68096435280964402E072-48203
chr68096448780964643E072-47962
chr68102628681026914E07213681
chr68103848781038594E07225882
chr68096435280964402E074-48203
chr68097833080978551E074-34054
chr68103930381039529E07426698
chr68103953581039699E07426930
chr68098631080986364E082-26241
chr68098667780986794E082-25811
chr68104128881041615E08228683
chr68104183981042016E08229234
chr68104321681043309E08230611
chr68104410181044184E08231496
chr68104425981044498E08231654







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr68104466581044950E06832060
chr68104466581044950E07132060