SNP Detail Info-rs2911181

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LOC105371308 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0401 (12011/29902,GnomAD)
G=0389 (11353/29118,TOPMED)
G=0442 (2214/5008,1000G)
G=0437 (1685/3854,ALSPAC)
G=0410 (1521/3708,TWINSUK)

Position: chr16:63563356 (GRCh38.p7) (16q21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 4 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.63563356A>G
GRCh37.p13 chr 16	NC_000016.9:g.63597260A>G

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105371308 transcript	XR_001752232.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.738	G=0.262
1000Genomes	American	Sub	694	A=0.470	G=0.530
1000Genomes	East Asian	Sub	1008	A=0.504	G=0.496
1000Genomes	Europe	Sub	1006	A=0.572	G=0.428
1000Genomes	Global	Study-wide	5008	A=0.558	G=0.442
1000Genomes	South Asian	Sub	978	A=0.420	G=0.580
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.563	G=0.437
The Genome Aggregation Database	African	Sub	8704	A=0.708	G=0.292
The Genome Aggregation Database	American	Sub	836	A=0.430	G=0.570
The Genome Aggregation Database	East Asian	Sub	1604	A=0.527	G=0.473
The Genome Aggregation Database	Europe	Sub	18456	A=0.559	G=0.440
The Genome Aggregation Database	Global	Study-wide	29902	A=0.598	G=0.401
The Genome Aggregation Database	Other	Sub	302	A=0.640	G=0.360
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.610	G=0.389
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.590	G=0.410

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
rs2911181	0.0003	alcohol dependence(early age of onset)	20201924
rs2911181	0.0009	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 )
chr16	63571856	63571936	E081	-25324
chr16	63571950	63572000	E081	-25260
chr16	63572194	63572244	E081	-25016
chr16	63550330	63550754	E082	-46506

rs2911181