rs3812121

Homo sapiens
A>G
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0363 (10876/29912,GnomAD)
G=0324 (9434/29118,TOPMED)
G=0395 (1980/5008,1000G)
G=0450 (1735/3854,ALSPAC)
G=0436 (1617/3708,TWINSUK)
chr6:80259010 (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.80259010A>G
GRCh37.p13 chr 6NC_000006.11:g.80968727A>G
BCKDHB RefSeqGeneNG_009775.1:g.157384A>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=0.907G=0.093
1000GenomesAmericanSub694A=0.380G=0.620
1000GenomesEast AsianSub1008A=0.444G=0.556
1000GenomesEuropeSub1006A=0.543G=0.457
1000GenomesGlobalStudy-wide5008A=0.605G=0.395
1000GenomesSouth AsianSub978A=0.580G=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.550G=0.450
The Genome Aggregation DatabaseAfricanSub8706A=0.852G=0.148
The Genome Aggregation DatabaseAmericanSub836A=0.380G=0.620
The Genome Aggregation DatabaseEast AsianSub1606A=0.439G=0.561
The Genome Aggregation DatabaseEuropeSub18462A=0.565G=0.434
The Genome Aggregation DatabaseGlobalStudy-wide29912A=0.636G=0.363
The Genome Aggregation DatabaseOtherSub302A=0.510G=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.676G=0.324
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.564G=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
rs38121210.0000207alcoholismpha002893
rs38121210.000021alcohol dependence20201924
rs38121210.00004alcohol dependence(early age of onset)20201924
rs38121210.0000403alcoholismpha002892

eQTL of rs3812121 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 rs3812121 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 )
chr68096435280964402E067-4325
chr68096448780964643E067-4084
chr68097833080978551E0679603
chr68097896680979066E06710239
chr68097769280977816E0688965
chr68095682980957013E071-11714
chr68095736980957551E071-11176
chr68096435280964402E071-4325
chr68096448780964643E071-4084
chr68096435280964402E072-4325
chr68096448780964643E072-4084
chr68095682980957013E074-11714
chr68095736980957551E074-11176
chr68096435280964402E074-4325
chr68097833080978551E0749603
chr68098631080986364E08217583
chr68098667780986794E08217950