rs9352817

Homo sapiens
T>G
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0399 (11963/29920,GnomAD)
G=0373 (10881/29118,TOPMED)
G=0430 (2153/5008,1000G)
G=0463 (1784/3854,ALSPAC)
G=0448 (1661/3708,TWINSUK)
chr6:80316162 (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.80316162T>G
GRCh37.p13 chr 6NC_000006.11:g.81025879T>G
BCKDHB RefSeqGeneNG_009775.1:g.214536T>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 X7XM_011536024.2:c.N/AIntron Variant
BCKDHB transcript variant X9XM_011536026.2:c.N/AIntron Variant
BCKDHB transcript variant X2XM_005248756.4:c.N/AGenic Downstream Transcript 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
1000GenomesAfricanSub1322T=0.788G=0.212
1000GenomesAmericanSub694T=0.370G=0.630
1000GenomesEast AsianSub1008T=0.447G=0.553
1000GenomesEuropeSub1006T=0.532G=0.468
1000GenomesGlobalStudy-wide5008T=0.570G=0.430
1000GenomesSouth AsianSub978T=0.580G=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.537G=0.463
The Genome Aggregation DatabaseAfricanSub8708T=0.757G=0.243
The Genome Aggregation DatabaseAmericanSub838T=0.370G=0.630
The Genome Aggregation DatabaseEast AsianSub1606T=0.435G=0.565
The Genome Aggregation DatabaseEuropeSub18466T=0.552G=0.447
The Genome Aggregation DatabaseGlobalStudy-wide29920T=0.600G=0.399
The Genome Aggregation DatabaseOtherSub302T=0.490G=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.626G=0.373
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.552G=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
rs93528170.000082alcohol dependence20201924
rs93528170.0000823alcoholismpha002893
rs93528170.000089alcohol dependence(early age of onset)20201924
rs93528170.0000891alcoholismpha002892

eQTL of rs9352817 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 rs9352817 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 )
chr68097833080978551E067-47328
chr68097896680979066E067-46813
chr68097769280977816E068-48063
chr68102628681026914E068407
chr68104128881041615E06815409
chr68104183981042016E06815960
chr68106576381065968E06839884
chr68107137281071603E06945493
chr68104128881041615E07015409
chr68104183981042016E07015960
chr68104321681043309E07017337
chr68102628681026914E071407
chr68103930381039529E07113424
chr68103953581039699E07113656
chr68104526481045477E07119385
chr68102628681026914E072407
chr68103848781038594E07212608
chr68097833080978551E074-47328
chr68103930381039529E07413424
chr68103953581039699E07413656
chr68098631080986364E082-39515
chr68098667780986794E082-39085
chr68104128881041615E08215409
chr68104183981042016E08215960
chr68104321681043309E08217337
chr68104410181044184E08218222
chr68104425981044498E08218380








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr68104466581044950E06818786
chr68104466581044950E07118786