SNP Detail Info-rs11126370

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

EXOC6B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0161 (4817/29880,GnomAD)
G==0203 (5932/29116,TOPMED)
G==0140 (699/5008,1000G)
G==0112 (431/3854,ALSPAC)
G==0117 (433/3708,TWINSUK)

Position: chr2:72498818 (GRCh38.p7) (2p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 39 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.72498818G>A
GRCh37.p13 chr 2	NC_000002.11:g.72725947G>A

Molecule type	Change	Amino acid[Codon]	SO Term
EXOC6B transcript variant 1	NM_001321729.1:c.	N/A	Intron Variant
EXOC6B transcript variant 3	NM_001321730.1:c.	N/A	Intron Variant
EXOC6B transcript variant 4	NM_001321731.1:c.	N/A	Intron Variant
EXOC6B transcript variant 5	NM_001321733.1:c.	N/A	Intron Variant
EXOC6B transcript variant 6	NM_001321734.1:c.	N/A	Intron Variant
EXOC6B transcript variant 2	NM_015189.2:c.	N/A	Intron Variant
EXOC6B transcript variant 7	NR_135773.1:n.	N/A	Intron Variant
EXOC6B transcript variant 8	NR_135774.1:n.	N/A	Intron Variant
EXOC6B transcript variant X4	XM_005264224.1:c.	N/A	Intron Variant
EXOC6B transcript variant X1	XM_011532711.2:c.	N/A	Intron Variant
EXOC6B transcript variant X2	XM_011532712.2:c.	N/A	Intron Variant
EXOC6B transcript variant X3	XM_017003641.1:c.	N/A	Intron Variant
EXOC6B transcript variant X5	XM_017003642.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.340	A=0.660
1000Genomes	American	Sub	694	G=0.110	A=0.890
1000Genomes	East Asian	Sub	1008	G=0.006	A=0.994
1000Genomes	Europe	Sub	1006	G=0.098	A=0.902
1000Genomes	Global	Study-wide	5008	G=0.140	A=0.860
1000Genomes	South Asian	Sub	978	G=0.070	A=0.930
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.112	A=0.888
The Genome Aggregation Database	African	Sub	8696	G=0.330	A=0.670
The Genome Aggregation Database	American	Sub	836	G=0.070	A=0.930
The Genome Aggregation Database	East Asian	Sub	1620	G=0.005	A=0.995
The Genome Aggregation Database	Europe	Sub	18426	G=0.099	A=0.900
The Genome Aggregation Database	Global	Study-wide	29880	G=0.161	A=0.838
The Genome Aggregation Database	Other	Sub	302	G=0.130	A=0.870
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.203	A=0.796
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.117	A=0.883

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
rs11126370	0.00074	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr2	72741315	72741476	E067	15368
chr2	72752177	72752550	E067	26230
chr2	72760541	72760608	E067	34594
chr2	72766193	72766762	E067	40246
chr2	72751308	72751467	E068	25361
chr2	72751475	72751601	E068	25528
chr2	72752177	72752550	E068	26230
chr2	72765697	72766179	E068	39750
chr2	72766193	72766762	E068	40246
chr2	72765697	72766179	E069	39750
chr2	72766193	72766762	E069	40246
chr2	72742864	72742982	E071	16917
chr2	72745671	72745862	E071	19724
chr2	72751308	72751467	E071	25361
chr2	72752177	72752550	E071	26230
chr2	72760541	72760608	E071	34594
chr2	72761007	72761141	E071	35060
chr2	72761989	72762161	E071	36042
chr2	72765697	72766179	E071	39750
chr2	72766193	72766762	E071	40246
chr2	72742864	72742982	E072	16917
chr2	72745671	72745862	E072	19724
chr2	72751308	72751467	E072	25361
chr2	72751475	72751601	E072	25528
chr2	72752177	72752550	E072	26230
chr2	72760541	72760608	E072	34594
chr2	72761007	72761141	E072	35060
chr2	72765697	72766179	E072	39750
chr2	72766193	72766762	E072	40246
chr2	72742864	72742982	E073	16917
chr2	72766193	72766762	E073	40246
chr2	72736351	72736561	E074	10404
chr2	72742864	72742982	E074	16917
chr2	72751308	72751467	E074	25361
chr2	72751475	72751601	E074	25528
chr2	72752177	72752550	E074	26230
chr2	72765697	72766179	E074	39750
chr2	72766193	72766762	E074	40246
chr2	72774116	72774213	E081	48169

rs11126370