rs8019291

Organism: Homo sapiens

Alleles: G>C / G>T

Gene : Feature

SLC24A4 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0134 (4028/29962,GnomAD)
T=0168 (4909/29118,TOPMED)
T=0163 (817/5008,1000G)

Position: chr14:92464820 (GRCh38.p7) (14q32.12)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.92464820G>C
GRCh38.p7 chr 14	NC_000014.9:g.92464820G>T
GRCh37.p13 chr 14	NC_000014.8:g.92931164G>C
GRCh37.p13 chr 14	NC_000014.8:g.92931164G>T
SLC24A4 RefSeqGene	NG_023408.1:g.147240G>C
SLC24A4 RefSeqGene	NG_023408.1:g.147240G>T

Gene: SLC24A4, solute carrier family 24 member 4(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC24A4 transcript variant 1	NM_153646.3:c.	N/A	Intron Variant
SLC24A4 transcript variant 2	NM_153647.3:c.	N/A	Intron Variant
SLC24A4 transcript variant 3	NM_153648.3:c.	N/A	Intron Variant
SLC24A4 transcript variant X7	XM_005267342.2:c.	N/A	Intron Variant
SLC24A4 transcript variant X1	XM_011536436.2:c.	N/A	Intron Variant
SLC24A4 transcript variant X2	XM_011536437.2:c.	N/A	Intron Variant
SLC24A4 transcript variant X3	XM_011536438.2:c.	N/A	Intron Variant
SLC24A4 transcript variant X4	XM_011536439.2:c.	N/A	Intron Variant
SLC24A4 transcript variant X6	XM_011536440.2:c.	N/A	Intron Variant
SLC24A4 transcript variant X7	XM_011536441.2:c.	N/A	Intron Variant
SLC24A4 transcript variant X8	XM_011536442.2:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.804	T=0.196
1000Genomes	American	Sub	694	G=0.800	T=0.200
1000Genomes	East Asian	Sub	1008	G=0.933	T=0.067
1000Genomes	Europe	Sub	1006	G=0.875	T=0.125
1000Genomes	Global	Study-wide	5008	G=0.837	T=0.163
1000Genomes	South Asian	Sub	978	G=0.770	T=0.230
The Genome Aggregation Database	African	Sub	8712	G=0.815	T=0.185
The Genome Aggregation Database	American	Sub	838	G=0.820	T=0.180
The Genome Aggregation Database	East Asian	Sub	1616	G=0.930	T=0.070
The Genome Aggregation Database	Europe	Sub	18494	G=0.887	T=0.113
The Genome Aggregation Database	Global	Study-wide	29962	G=0.865	T=0.134
The Genome Aggregation Database	Other	Sub	302	G=0.770	T=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.831	T=0.168

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

P-Value

SNP ID	p-value	Traits	Study
rs8019291	8.09E-06	nicotine smoking	19268276

eQTL of rs8019291 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs8019291 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.