rs9343974

Homo sapiens
A>G
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0419 (12558/29918,GnomAD)
G=0391 (11407/29118,TOPMED)
A==0484 (2422/5008,1000G)
G=0496 (1910/3854,ALSPAC)
G=0485 (1797/3708,TWINSUK)
chr6:80214928 (GRCh38.p7) (6q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.80214928A>G
GRCh37.p13 chr 6NC_000006.11:g.80924645A>G
BCKDHB RefSeqGeneNG_009775.1:g.113302A>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
1000GenomesAfricanSub1322A=0.822G=0.178
1000GenomesAmericanSub694A=0.360G=0.640
1000GenomesEast AsianSub1008A=0.305G=0.695
1000GenomesEuropeSub1006A=0.495G=0.505
1000GenomesGlobalStudy-wide5008A=0.484G=0.516
1000GenomesSouth AsianSub978A=0.290G=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.504G=0.496
The Genome Aggregation DatabaseAfricanSub8710A=0.776G=0.224
The Genome Aggregation DatabaseAmericanSub832A=0.340G=0.660
The Genome Aggregation DatabaseEast AsianSub1620A=0.301G=0.699
The Genome Aggregation DatabaseEuropeSub18454A=0.524G=0.475
The Genome Aggregation DatabaseGlobalStudy-wide29918A=0.580G=0.419
The Genome Aggregation DatabaseOtherSub302A=0.460G=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.608G=0.391
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=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
rs93439740.00014alcohol dependence(early age of onset)20201924
rs93439740.00015alcohol dependence20201924

eQTL of rs9343974 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 rs9343974 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 )
chr68090717280907601E067-17044
chr68090775380908046E067-16599
chr68096435280964402E06739707
chr68096448780964643E06739842
chr68090717280907601E068-17044
chr68090775380908046E068-16599
chr68090717280907601E069-17044
chr68090775380908046E069-16599
chr68090668180906909E070-17736
chr68090717280907601E070-17044
chr68090775380908046E070-16599
chr68090865580908764E070-15881
chr68090717280907601E071-17044
chr68090775380908046E071-16599
chr68095682980957013E07132184
chr68095736980957551E07132724
chr68096435280964402E07139707
chr68096448780964643E07139842
chr68090717280907601E072-17044
chr68096435280964402E07239707
chr68096448780964643E07239842
chr68090717280907601E073-17044
chr68090775380908046E073-16599
chr68090717280907601E074-17044
chr68090775380908046E074-16599
chr68095682980957013E07432184
chr68095736980957551E07432724
chr68096435280964402E07439707
chr68090641980906527E081-18118
chr68090717280907601E081-17044
chr68090775380908046E081-16599
chr68090668180906909E082-17736
chr68090717280907601E082-17044
chr68090775380908046E082-16599