SNP Detail Info-rs2810864

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LINC00395 : Intron Variant
LOC105370236 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0181 (5423/29868,GnomAD)
A=0255 (7436/29116,TOPMED)
A=0202 (1012/5008,1000G)
A=0020 (78/3854,ALSPAC)
A=0020 (76/3708,TWINSUK)

Position: chr13:63667981 (GRCh38.p7) (13q21.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.63667981G>A
GRCh37.p13 chr 13	NC_000013.10:g.64242114G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LINC00395 transcript	NR_047011.1:n.	N/A	Intron Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370236 transcript variant X3	XR_942019.1:n.	N/A	Intron Variant
LOC105370236 transcript variant X1	XR_942018.1:n.	N/A	Genic Downstream Transcript Variant
LOC105370236 transcript variant X2	XR_942020.1:n.	N/A	Genic Downstream Transcript Variant
LOC105370236 transcript variant X4	XR_942021.2:n.	N/A	Genic Downstream Transcript Variant
LOC105370236 transcript variant X5	XR_942022.1:n.	N/A	Genic Downstream Transcript Variant
LOC105370236 transcript variant X6	XR_942023.1:n.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.390	A=0.610
1000Genomes	American	Sub	694	G=0.860	A=0.140
1000Genomes	East Asian	Sub	1008	G=0.956	A=0.044
1000Genomes	Europe	Sub	1006	G=0.980	A=0.020
1000Genomes	Global	Study-wide	5008	G=0.798	A=0.202
1000Genomes	South Asian	Sub	978	G=0.960	A=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.980	A=0.020
The Genome Aggregation Database	African	Sub	8704	G=0.466	A=0.534
The Genome Aggregation Database	American	Sub	838	G=0.840	A=0.160
The Genome Aggregation Database	East Asian	Sub	1570	G=0.968	A=0.032
The Genome Aggregation Database	Europe	Sub	18454	G=0.968	A=0.031
The Genome Aggregation Database	Global	Study-wide	29868	G=0.818	A=0.181
The Genome Aggregation Database	Other	Sub	302	G=0.960	A=0.040
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.744	A=0.255
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.980	A=0.020

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
20202923	A genome-wide association study of alcohol dependence.	Bierut LJ	Proc Natl Acad Sci U S A

SNP ID	p-value	Traits	Study
rs2810864	0.000009	alcohol dependence	20202923
rs2810864	0.000701	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 )
chr13	64223702	64224213	E074	-17901
chr13	64279182	64279240	E081	37068
chr13	64279393	64279545	E081	37279

rs2810864