SNP Detail Info-rs927848

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0452 (13511/29876,GnomAD)
G=0474 (13822/29116,TOPMED)
G=0480 (2405/5008,1000G)
G=0397 (1531/3854,ALSPAC)
G=0386 (1431/3708,TWINSUK)

Position: chr13:27803002 (GRCh38.p7) (13q12.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 1 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.27803002A>G
GRCh37.p13 chr 13	NC_000013.10:g.28377139A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.410	G=0.590
1000Genomes	American	Sub	694	A=0.520	G=0.480
1000Genomes	East Asian	Sub	1008	A=0.491	G=0.509
1000Genomes	Europe	Sub	1006	A=0.620	G=0.380
1000Genomes	Global	Study-wide	5008	A=0.520	G=0.480
1000Genomes	South Asian	Sub	978	A=0.590	G=0.410
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.603	G=0.397
The Genome Aggregation Database	African	Sub	8682	A=0.421	G=0.579
The Genome Aggregation Database	American	Sub	836	A=0.470	G=0.530
The Genome Aggregation Database	East Asian	Sub	1610	A=0.473	G=0.527
The Genome Aggregation Database	Europe	Sub	18446	A=0.614	G=0.385
The Genome Aggregation Database	Global	Study-wide	29876	A=0.547	G=0.452
The Genome Aggregation Database	Other	Sub	302	A=0.690	G=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.525	G=0.474
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.614	G=0.386

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
rs927848	0.00073	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	28401335	28401517	E069	24196
chr13	28399328	28399396	E070	22189
chr13	28399518	28399572	E070	22379
chr13	28400104	28400183	E070	22965
chr13	28401335	28401517	E071	24196

rs927848