rs2322633

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

BCKDHB : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0473 (14161/29892,GnomAD)
C=0469 (13684/29118,TOPMED)
T==0428 (2142/5008,1000G)
C=0500 (1926/3854,ALSPAC)
C=0489 (1815/3708,TWINSUK)

Position: chr6:80136272 (GRCh38.p7) (6q14.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 42 Enhancers around

Promoter: 15 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
BCKDHB transcript variant 2	NM_000056.4:c.	N/A	Intron Variant
BCKDHB transcript variant 3	NM_001318975.1:c.	N/A	Intron Variant
BCKDHB transcript variant 1	NM_183050.3:c.	N/A	Intron Variant
BCKDHB transcript variant 4	NR_134945.1:n.	N/A	Intron Variant
BCKDHB transcript variant X2	XM_005248756.4:c.	N/A	Intron Variant
BCKDHB transcript variant X5	XM_011536023.2:c.	N/A	Intron Variant
BCKDHB transcript variant X7	XM_011536024.2:c.	N/A	Intron Variant
BCKDHB transcript variant X8	XM_011536025.2:c.	N/A	Intron Variant
BCKDHB transcript variant X9	XM_011536026.2:c.	N/A	Intron Variant
BCKDHB transcript variant X1	XR_001743546.1:n.	N/A	Intron Variant
BCKDHB transcript variant X3	XR_001743547.1:n.	N/A	Intron Variant
BCKDHB transcript variant X4	XR_001743548.1:n.	N/A	Intron Variant
BCKDHB transcript variant X6	XR_001743549.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.629	C=0.371
1000Genomes	American	Sub	694	T=0.340	C=0.660
1000Genomes	East Asian	Sub	1008	T=0.304	C=0.696
1000Genomes	Europe	Sub	1006	T=0.485	C=0.515
1000Genomes	Global	Study-wide	5008	T=0.428	C=0.572
1000Genomes	South Asian	Sub	978	T=0.290	C=0.710
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.500	C=0.500
The Genome Aggregation Database	African	Sub	8706	T=0.607	C=0.393
The Genome Aggregation Database	American	Sub	834	T=0.340	C=0.660
The Genome Aggregation Database	East Asian	Sub	1602	T=0.300	C=0.700
The Genome Aggregation Database	Europe	Sub	18448	T=0.517	C=0.482
The Genome Aggregation Database	Global	Study-wide	29892	T=0.526	C=0.473
The Genome Aggregation Database	Other	Sub	302	T=0.450	C=0.550
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.530	C=0.469
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.511	C=0.489

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs2322633	0.00012	alcohol dependence(early age of onset)	20201924
rs2322633	0.00014	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr6	80815363	80815467	E067	-30522
chr6	80817345	80817622	E067	-28367
chr6	80853021	80853694	E067	7032
chr6	80854554	80854678	E067	8565
chr6	80854808	80854908	E067	8819
chr6	80854959	80855036	E067	8970
chr6	80815363	80815467	E068	-30522
chr6	80817345	80817622	E068	-28367
chr6	80842759	80843044	E068	-2945
chr6	80852880	80852935	E068	6891
chr6	80853021	80853694	E068	7032
chr6	80815363	80815467	E069	-30522
chr6	80817345	80817622	E069	-28367
chr6	80842759	80843044	E069	-2945
chr6	80852880	80852935	E069	6891
chr6	80853021	80853694	E070	7032
chr6	80871237	80871352	E070	25248
chr6	80817345	80817622	E071	-28367
chr6	80853021	80853694	E071	7032
chr6	80853813	80853863	E071	7824
chr6	80854021	80854071	E071	8032
chr6	80854554	80854678	E071	8565
chr6	80854808	80854908	E071	8819
chr6	80854959	80855036	E071	8970
chr6	80817345	80817622	E072	-28367
chr6	80852880	80852935	E072	6891
chr6	80853021	80853694	E072	7032
chr6	80852880	80852935	E073	6891
chr6	80853021	80853694	E073	7032
chr6	80817345	80817622	E074	-28367
chr6	80854554	80854678	E074	8565
chr6	80853021	80853694	E081	7032
chr6	80854554	80854678	E081	8565
chr6	80854808	80854908	E081	8819
chr6	80854959	80855036	E081	8970
chr6	80817345	80817622	E082	-28367
chr6	80853021	80853694	E082	7032
chr6	80853813	80853863	E082	7824
chr6	80854021	80854071	E082	8032
chr6	80854554	80854678	E082	8565
chr6	80854808	80854908	E082	8819
chr6	80854959	80855036	E082	8970

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr6	80815862	80816976	E067	-29013
chr6	80815862	80816976	E068	-29013
chr6	80817109	80817165	E068	-28824
chr6	80815862	80816976	E069	-29013
chr6	80815862	80816976	E070	-29013
chr6	80815862	80816976	E071	-29013
chr6	80817109	80817165	E071	-28824
chr6	80815862	80816976	E072	-29013
chr6	80817109	80817165	E072	-28824
chr6	80815862	80816976	E073	-29013
chr6	80817109	80817165	E073	-28824
chr6	80815862	80816976	E074	-29013
chr6	80817109	80817165	E074	-28824
chr6	80815862	80816976	E081	-29013
chr6	80815862	80816976	E082	-29013