SNP Detail Info-rs8002837

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

LOC105370301 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0135 (4039/29880,GnomAD)
G=0167 (4876/29118,TOPMED)
G=0135 (676/5008,1000G)
G=0105 (404/3854,ALSPAC)
G=0104 (384/3708,TWINSUK)

Position: chr13:87049018 (GRCh38.p7) (13q31.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.87049018T>G
GRCh37.p13 chr 13	NC_000013.10:g.87701273T>G

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370301 transcript variant X1	XR_931623.2:n.	N/A	Intron Variant
LOC105370301 transcript variant X2	XR_931624.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.703	G=0.297
1000Genomes	American	Sub	694	T=0.910	G=0.090
1000Genomes	East Asian	Sub	1008	T=0.970	G=0.030
1000Genomes	Europe	Sub	1006	T=0.906	G=0.094
1000Genomes	Global	Study-wide	5008	T=0.865	G=0.135
1000Genomes	South Asian	Sub	978	T=0.900	G=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.895	G=0.105
The Genome Aggregation Database	African	Sub	8660	T=0.738	G=0.262
The Genome Aggregation Database	American	Sub	836	T=0.940	G=0.060
The Genome Aggregation Database	East Asian	Sub	1622	T=0.955	G=0.045
The Genome Aggregation Database	Europe	Sub	18460	T=0.913	G=0.086
The Genome Aggregation Database	Global	Study-wide	29880	T=0.864	G=0.135
The Genome Aggregation Database	Other	Sub	302	T=0.840	G=0.160
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.832	G=0.167
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.896	G=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
rs8002837	9.46E-05	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

rs8002837