SNP Detail Info-rs4423615

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

GRB14 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0492 (14719/29878,GnomAD)
A=0426 (12423/29118,TOPMED)
A=0401 (2010/5008,1000G)
G==0435 (1676/3854,ALSPAC)
G==0434 (1611/3708,TWINSUK)

Position: chr2:164581720 (GRCh38.p7) (2q24.3)

Phenotype: ND

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 16 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.164581720G>A
GRCh37.p13 chr 2	NC_000002.11:g.165438230G>A

Molecule type	Change	Amino acid[Codon]	SO Term
GRB14 transcript variant 1	NM_004490.2:c.	N/A	Intron Variant
GRB14 transcript variant 2	NM_001303422.1:c.	N/A	Genic Upstream Transcript Variant
GRB14 transcript variant X5	XM_011511022.2:c.	N/A	Intron Variant
GRB14 transcript variant X3	XM_017003899.1:c.	N/A	Genic Upstream Transcript Variant
GRB14 transcript variant X4	XR_427085.3:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.762	A=0.238
1000Genomes	American	Sub	694	G=0.490	A=0.510
1000Genomes	East Asian	Sub	1008	G=0.650	A=0.350
1000Genomes	Europe	Sub	1006	G=0.444	A=0.556
1000Genomes	Global	Study-wide	5008	G=0.599	A=0.401
1000Genomes	South Asian	Sub	978	G=0.560	A=0.440
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.435	A=0.565
The Genome Aggregation Database	African	Sub	8692	G=0.716	A=0.284
The Genome Aggregation Database	American	Sub	836	G=0.510	A=0.490
The Genome Aggregation Database	East Asian	Sub	1604	G=0.655	A=0.345
The Genome Aggregation Database	Europe	Sub	18444	G=0.398	A=0.602
The Genome Aggregation Database	Global	Study-wide	29878	G=0.507	A=0.492
The Genome Aggregation Database	Other	Sub	302	G=0.410	A=0.590
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.573	A=0.426
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.434	A=0.566

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet
22719919	Glutamate and synaptic plasticity systems and smoking behavior: results from a genetic association study.	dos Santos VA	PLoS One

SNP ID	p-value	Traits	Study
rs4423615	0.0000529	Nicotine initiation (smoking)	19268276
rs4423615	0.0000678	Nicotine dependence (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 )
chr2	165394202	165394484	E071	-43746
chr2	165394529	165395055	E071	-43175

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	165477089	165477240	E067	38859
chr2	165477320	165478648	E067	39090
chr2	165477320	165478648	E068	39090
chr2	165477089	165477240	E069	38859
chr2	165477320	165478648	E069	39090
chr2	165477089	165477240	E070	38859
chr2	165477320	165478648	E070	39090
chr2	165477320	165478648	E071	39090
chr2	165477089	165477240	E072	38859
chr2	165477320	165478648	E072	39090
chr2	165477320	165478648	E073	39090
chr2	165477089	165477240	E074	38859
chr2	165477320	165478648	E074	39090
chr2	165477089	165477240	E081	38859
chr2	165477089	165477240	E082	38859
chr2	165477320	165478648	E082	39090

rs4423615