rs4437429

Homo sapiens
A>G
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0355 (10639/29906,GnomAD)
G=0311 (9057/29118,TOPMED)
G=0388 (1943/5008,1000G)
G=0453 (1745/3854,ALSPAC)
G=0440 (1630/3708,TWINSUK)
chr6:80118875 (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.80118875A>G
GRCh37.p13 chr 6NC_000006.11:g.80828592A>G
BCKDHB RefSeqGeneNG_009775.1:g.17249A>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/AGenic Upstream 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
1000GenomesAfricanSub1322A=0.939G=0.061
1000GenomesAmericanSub694A=0.380G=0.620
1000GenomesEast AsianSub1008A=0.444G=0.556
1000GenomesEuropeSub1006A=0.537G=0.463
1000GenomesGlobalStudy-wide5008A=0.612G=0.388
1000GenomesSouth AsianSub978A=0.580G=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.547G=0.453
The Genome Aggregation DatabaseAfricanSub8718A=0.883G=0.117
The Genome Aggregation DatabaseAmericanSub834A=0.380G=0.620
The Genome Aggregation DatabaseEast AsianSub1622A=0.442G=0.558
The Genome Aggregation DatabaseEuropeSub18432A=0.563G=0.436
The Genome Aggregation DatabaseGlobalStudy-wide29906A=0.644G=0.355
The Genome Aggregation DatabaseOtherSub300A=0.510G=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.689G=0.311
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.560G=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
rs44374290.0000043alcohol dependence20201924
rs44374290.00000434alcoholismpha002893
rs44374290.00001alcoholismpha002892
rs44374290.00001alcohol dependence(early age of onset)20201924

eQTL of rs4437429 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:80828592RP11-250B2.5ENSG00000260645.1A>G4.8851e-3-348083Cerebellum
Chr6:80828592BCKDHBENSG00000083123.10A>G5.9656e-312228Caudate_basal_ganglia

meQTL of rs4437429 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 )
chr68081536380815467E067-13125
chr68081734580817622E067-10970
chr68085302180853694E06724429
chr68085455480854678E06725962
chr68085480880854908E06726216
chr68085495980855036E06726367
chr68081536380815467E068-13125
chr68081734580817622E068-10970
chr68084275980843044E06814167
chr68085288080852935E06824288
chr68085302180853694E06824429
chr68081536380815467E069-13125
chr68081734580817622E069-10970
chr68084275980843044E06914167
chr68085288080852935E06924288
chr68085302180853694E07024429
chr68087123780871352E07042645
chr68081734580817622E071-10970
chr68085302180853694E07124429
chr68085381380853863E07125221
chr68085402180854071E07125429
chr68085455480854678E07125962
chr68085480880854908E07126216
chr68085495980855036E07126367
chr68081734580817622E072-10970
chr68085288080852935E07224288
chr68085302180853694E07224429
chr68085288080852935E07324288
chr68085302180853694E07324429
chr68081734580817622E074-10970
chr68085455480854678E07425962
chr68085302180853694E08124429
chr68085455480854678E08125962
chr68085480880854908E08126216
chr68085495980855036E08126367
chr68081734580817622E082-10970
chr68085302180853694E08224429
chr68085381380853863E08225221
chr68085402180854071E08225429
chr68085455480854678E08225962
chr68085480880854908E08226216
chr68085495980855036E08226367










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr68081586280816976E067-11616
chr68081586280816976E068-11616
chr68081710980817165E068-11427
chr68081586280816976E069-11616
chr68081586280816976E070-11616
chr68081586280816976E071-11616
chr68081710980817165E071-11427
chr68081586280816976E072-11616
chr68081710980817165E072-11427
chr68081586280816976E073-11616
chr68081710980817165E073-11427
chr68081586280816976E074-11616
chr68081710980817165E074-11427
chr68081586280816976E081-11616
chr68081586280816976E082-11616