SNP Detail Info-rs11990542

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0038 (1143/29918,GnomAD)
A=0047 (1392/29118,TOPMED)
A=0063 (316/5008,1000G)
A=0047 (182/3854,ALSPAC)
A=0056 (207/3708,TWINSUK)

Position: chr8:93067757 (GRCh38.p7) (8q22.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 8 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.93067757G>A
GRCh37.p13 chr 8	NC_000008.10:g.94079985G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.955	A=0.045
1000Genomes	American	Sub	694	G=0.970	A=0.030
1000Genomes	East Asian	Sub	1008	G=0.956	A=0.044
1000Genomes	Europe	Sub	1006	G=0.952	A=0.048
1000Genomes	Global	Study-wide	5008	G=0.937	A=0.063
1000Genomes	South Asian	Sub	978	G=0.850	A=0.150
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.953	A=0.047
The Genome Aggregation Database	African	Sub	8722	G=0.950	A=0.050
The Genome Aggregation Database	American	Sub	838	G=0.980	A=0.020
The Genome Aggregation Database	East Asian	Sub	1608	G=0.976	A=0.024
The Genome Aggregation Database	Europe	Sub	18448	G=0.964	A=0.035
The Genome Aggregation Database	Global	Study-wide	29918	G=0.961	A=0.038
The Genome Aggregation Database	Other	Sub	302	G=0.990	A=0.010
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.952	A=0.047
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.944	A=0.056

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

SNP ID	p-value	Traits	Study
rs11990542	2.63E-05	alcohol consumption	23953852

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 )
chr8	94106944	94107068	E070	26959
chr8	94107123	94107255	E070	27138
chr8	94103669	94103946	E081	23684
chr8	94114833	94115145	E081	34848
chr8	94115591	94115641	E081	35606
chr8	94033901	94034031	E082	-45954
chr8	94034136	94034256	E082	-45729
chr8	94103669	94103946	E082	23684

rs11990542