rs978814

Homo sapiens
C>A
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0353 (10568/29910,GnomAD)
A=0307 (8955/29118,TOPMED)
A=0385 (1930/5008,1000G)
A=0447 (1724/3854,ALSPAC)
A=0436 (1615/3708,TWINSUK)
chr6:80250195 (GRCh38.p7) (6q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.80250195C>A
GRCh37.p13 chr 6NC_000006.11:g.80959912C>A
BCKDHB RefSeqGeneNG_009775.1:g.148569C>A

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
1000GenomesAfricanSub1322C=0.938A=0.062
1000GenomesAmericanSub694C=0.390A=0.610
1000GenomesEast AsianSub1008C=0.446A=0.554
1000GenomesEuropeSub1006C=0.543A=0.457
1000GenomesGlobalStudy-wide5008C=0.615A=0.385
1000GenomesSouth AsianSub978C=0.580A=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.553A=0.447
The Genome Aggregation DatabaseAfricanSub8710C=0.885A=0.115
The Genome Aggregation DatabaseAmericanSub832C=0.380A=0.620
The Genome Aggregation DatabaseEast AsianSub1602C=0.439A=0.561
The Genome Aggregation DatabaseEuropeSub18466C=0.566A=0.433
The Genome Aggregation DatabaseGlobalStudy-wide29910C=0.646A=0.353
The Genome Aggregation DatabaseOtherSub300C=0.520A=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.692A=0.307
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.564A=0.436
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
rs9788140.000019alcohol dependence20201924
rs9788140.0000191alcoholismpha002893
rs9788140.00003alcohol dependence(early age of onset)20201924
rs9788140.0000303alcoholismpha002892

eQTL of rs978814 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:80959912RP11-250B2.5ENSG00000260645.1C>A4.8851e-3-216763Cerebellum

meQTL of rs978814 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 )
chr68096435280964402E0674440
chr68096448780964643E0674575
chr68097833080978551E06718418
chr68097896680979066E06719054
chr68097769280977816E06817780
chr68095682980957013E071-2899
chr68095736980957551E071-2361
chr68096435280964402E0714440
chr68096448780964643E0714575
chr68096435280964402E0724440
chr68096448780964643E0724575
chr68095682980957013E074-2899
chr68095736980957551E074-2361
chr68096435280964402E0744440
chr68097833080978551E07418418
chr68098631080986364E08226398
chr68098667780986794E08226765