SNP Detail Info-rs2138683

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

EXOC6B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0156 (4693/29922,GnomAD)
G==0197 (5752/29116,TOPMED)
G==0134 (671/5008,1000G)
G==0112 (433/3854,ALSPAC)
G==0117 (433/3708,TWINSUK)

Position: chr2:72508380 (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.72508380G>A
GRCh37.p13 chr 2	NC_000002.11:g.72735509G>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=0.321	A=0.679
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=0.134	A=0.866
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	8692	G=0.316	A=0.684
The Genome Aggregation Database	American	Sub	834	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	18474	G=0.099	A=0.900
The Genome Aggregation Database	Global	Study-wide	29922	G=0.156	A=0.843
The Genome Aggregation Database	Other	Sub	302	G=0.130	A=0.870
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.197	A=0.802
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
rs2138683	0.00049	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	5806
chr2	72752177	72752550	E067	16668
chr2	72760541	72760608	E067	25032
chr2	72766193	72766762	E067	30684
chr2	72751308	72751467	E068	15799
chr2	72751475	72751601	E068	15966
chr2	72752177	72752550	E068	16668
chr2	72765697	72766179	E068	30188
chr2	72766193	72766762	E068	30684
chr2	72765697	72766179	E069	30188
chr2	72766193	72766762	E069	30684
chr2	72742864	72742982	E071	7355
chr2	72745671	72745862	E071	10162
chr2	72751308	72751467	E071	15799
chr2	72752177	72752550	E071	16668
chr2	72760541	72760608	E071	25032
chr2	72761007	72761141	E071	25498
chr2	72761989	72762161	E071	26480
chr2	72765697	72766179	E071	30188
chr2	72766193	72766762	E071	30684
chr2	72742864	72742982	E072	7355
chr2	72745671	72745862	E072	10162
chr2	72751308	72751467	E072	15799
chr2	72751475	72751601	E072	15966
chr2	72752177	72752550	E072	16668
chr2	72760541	72760608	E072	25032
chr2	72761007	72761141	E072	25498
chr2	72765697	72766179	E072	30188
chr2	72766193	72766762	E072	30684
chr2	72742864	72742982	E073	7355
chr2	72766193	72766762	E073	30684
chr2	72736351	72736561	E074	842
chr2	72742864	72742982	E074	7355
chr2	72751308	72751467	E074	15799
chr2	72751475	72751601	E074	15966
chr2	72752177	72752550	E074	16668
chr2	72765697	72766179	E074	30188
chr2	72766193	72766762	E074	30684
chr2	72774116	72774213	E081	38607

rs2138683