SNP Detail Info-rs9301988

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0123 (3693/29922,GnomAD)
A=0152 (4435/29118,TOPMED)
A=0117 (587/5008,1000G)
A=0104 (400/3854,ALSPAC)
A=0104 (386/3708,TWINSUK)

Position: chr13:87100262 (GRCh38.p7) (13q31.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.87100262G>A
GRCh37.p13 chr 13	NC_000013.10:g.87752517G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.785	A=0.215
1000Genomes	American	Sub	694	G=0.910	A=0.090
1000Genomes	East Asian	Sub	1008	G=0.968	A=0.032
1000Genomes	Europe	Sub	1006	G=0.906	A=0.094
1000Genomes	Global	Study-wide	5008	G=0.883	A=0.117
1000Genomes	South Asian	Sub	978	G=0.880	A=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.896	A=0.104
The Genome Aggregation Database	African	Sub	8720	G=0.781	A=0.219
The Genome Aggregation Database	American	Sub	832	G=0.920	A=0.080
The Genome Aggregation Database	East Asian	Sub	1612	G=0.953	A=0.047
The Genome Aggregation Database	Europe	Sub	18456	G=0.913	A=0.086
The Genome Aggregation Database	Global	Study-wide	29922	G=0.876	A=0.123
The Genome Aggregation Database	Other	Sub	302	G=0.850	A=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.847	A=0.152
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.896	A=0.104

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs9301988	0.000118	alcohol consumption	23743675

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	87780751	87780970	E070	28234
chr13	87780990	87781070	E070	28473
chr13	87781139	87781194	E070	28622
chr13	87781361	87781523	E070	28844
chr13	87781609	87781698	E070	29092
chr13	87781897	87782225	E070	29380
chr13	87782248	87782420	E070	29731
chr13	87782730	87782844	E070	30213
chr13	87783996	87784117	E070	31479

rs9301988