SNP Detail Info-rs9847248

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105376976 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0256 (7651/29844,GnomAD)
G==0210 (6137/29118,TOPMED)
G==0316 (1585/5008,1000G)
G==0279 (1075/3854,ALSPAC)
G==0285 (1057/3708,TWINSUK)

Position: chr3:18763163 (GRCh38.p7) (3p24.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.18763163G>A
GRCh37.p13 chr 3	NC_000003.11:g.18804655G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105376976 transcript variant X2	XR_001740423.1:n.	N/A	Intron Variant
LOC105376976 transcript variant X1	XR_940635.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.120	A=0.880
1000Genomes	American	Sub	694	G=0.270	A=0.730
1000Genomes	East Asian	Sub	1008	G=0.465	A=0.535
1000Genomes	Europe	Sub	1006	G=0.305	A=0.695
1000Genomes	Global	Study-wide	5008	G=0.316	A=0.684
1000Genomes	South Asian	Sub	978	G=0.480	A=0.520
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.279	A=0.721
The Genome Aggregation Database	African	Sub	8728	G=0.129	A=0.871
The Genome Aggregation Database	American	Sub	836	G=0.260	A=0.740
The Genome Aggregation Database	East Asian	Sub	1536	G=0.464	A=0.536
The Genome Aggregation Database	Europe	Sub	18442	G=0.296	A=0.703
The Genome Aggregation Database	Global	Study-wide	29844	G=0.256	A=0.743
The Genome Aggregation Database	Other	Sub	302	G=0.380	A=0.620
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.210	A=0.789
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.285	A=0.715

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
rs9847248	0.00013	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 )
chr3	18794975	18795066	E081	-9589
chr3	18794975	18795066	E082	-9589

rs9847248