SNP Detail Info-rs302960

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ZFPM2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0195 (5837/29914,GnomAD)
G=0166 (4834/29118,TOPMED)
G=0235 (1179/5008,1000G)
G=0251 (968/3854,ALSPAC)
G=0245 (908/3708,TWINSUK)

Position: chr8:105505449 (GRCh38.p7) (8q23.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
ZFPM2 transcript variant 1	NM_012082.3:c.	N/A	Intron Variant
ZFPM2 transcript variant X1	XM_011516947.2:c.	N/A	Intron Variant
ZFPM2 transcript variant X2	XM_011516948.2:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.953	G=0.047
1000Genomes	American	Sub	694	A=0.640	G=0.360
1000Genomes	East Asian	Sub	1008	A=0.603	G=0.397
1000Genomes	Europe	Sub	1006	A=0.752	G=0.248
1000Genomes	Global	Study-wide	5008	A=0.765	G=0.235
1000Genomes	South Asian	Sub	978	A=0.770	G=0.230
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.749	G=0.251
The Genome Aggregation Database	African	Sub	8714	A=0.933	G=0.067
The Genome Aggregation Database	American	Sub	836	A=0.660	G=0.340
The Genome Aggregation Database	East Asian	Sub	1610	A=0.586	G=0.414
The Genome Aggregation Database	Europe	Sub	18454	A=0.769	G=0.230
The Genome Aggregation Database	Global	Study-wide	29914	A=0.804	G=0.195
The Genome Aggregation Database	Other	Sub	300	A=0.800	G=0.200
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.834	G=0.166
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.755	G=0.245

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
rs302960	0.000103	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr8	106529982	106530970	E067	12305
chr8	106487234	106487308	E068	-30369
chr8	106529982	106530970	E068	12305
chr8	106529982	106530970	E069	12305
chr8	106503427	106503474	E070	-14203
chr8	106529982	106530970	E071	12305
chr8	106536614	106536716	E071	18937
chr8	106537448	106537544	E071	19771
chr8	106537565	106537661	E071	19888
chr8	106529982	106530970	E072	12305
chr8	106537448	106537544	E073	19771
chr8	106487234	106487308	E081	-30369
chr8	106488439	106488500	E081	-29177
chr8	106488652	106488860	E081	-28817
chr8	106536614	106536716	E081	18937
chr8	106536736	106537283	E081	19059
chr8	106485964	106486085	E082	-31592

rs302960