SNP Detail Info-rs6570989

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

GRIK2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0259 (7760/29926,GnomAD)
A=0276 (8048/29118,TOPMED)
A=0368 (1841/5008,1000G)
A=0157 (606/3854,ALSPAC)
A=0156 (578/3708,TWINSUK)

Position: chr6:101509537 (GRCh38.p7) (6q16.3)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
GRIK2 transcript variant 3	NM_001166247.1:c.	N/A	Intron Variant
GRIK2 transcript variant 1	NM_021956.4:c.	N/A	Intron Variant
GRIK2 transcript variant 2	NM_175768.3:c.	N/A	Intron Variant
GRIK2 transcript variant X1	XM_005266945.2:c.	N/A	Intron Variant
GRIK2 transcript variant X2	XM_011535777.2:c.	N/A	Intron Variant
GRIK2 transcript variant X3	XM_011535778.2:c.	N/A	Intron Variant
GRIK2 transcript variant X5	XM_017010781.1:c.	N/A	Intron Variant
GRIK2 transcript variant X6	XM_017010782.1:c.	N/A	Intron Variant
GRIK2 transcript variant X4	XM_005266946.3:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.558	A=0.442
1000Genomes	American	Sub	694	G=0.800	A=0.200
1000Genomes	East Asian	Sub	1008	G=0.510	A=0.490
1000Genomes	Europe	Sub	1006	G=0.827	A=0.173
1000Genomes	Global	Study-wide	5008	G=0.632	A=0.368
1000Genomes	South Asian	Sub	978	G=0.540	A=0.460
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.843	A=0.157
The Genome Aggregation Database	African	Sub	8704	G=0.595	A=0.405
The Genome Aggregation Database	American	Sub	836	G=0.780	A=0.220
The Genome Aggregation Database	East Asian	Sub	1616	G=0.512	A=0.488
The Genome Aggregation Database	Europe	Sub	18468	G=0.826	A=0.173
The Genome Aggregation Database	Global	Study-wide	29926	G=0.740	A=0.259
The Genome Aggregation Database	Other	Sub	302	G=0.820	A=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.723	A=0.276
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.844	A=0.156

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

SNP ID	p-value	Traits	Study
rs6570989	7.73E-05	nicotine smoking	19268276

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

rs6570989