SNP Detail Info-rs2249449

Organism: Homo sapiens

Alleles: A>G / A>T

Gene : Feature

CXADR : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0478 (14290/29882,GnomAD)
G=0387 (11278/29118,TOPMED)
G=0436 (2185/5008,1000G)
A==0382 (1471/3854,ALSPAC)
A==0372 (1379/3708,TWINSUK)

Position: chr21:17560125 (GRCh38.p7) (21q21.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
CXADR transcript variant 2	NM_001207063.1:c.	N/A	Intron Variant
CXADR transcript variant 3	NM_001207064.1:c.	N/A	Intron Variant
CXADR transcript variant 4	NM_001207065.1:c.	N/A	Intron Variant
CXADR transcript variant 5	NM_001207066.1:c.	N/A	Intron Variant
CXADR transcript variant 1	NM_001338.4:c.	N/A	Intron Variant
CXADR transcript variant X2	XM_011529476.2:c.	N/A	Intron Variant
CXADR transcript variant X3	XM_011529477.2:c.	N/A	Intron Variant
CXADR transcript variant X4	XM_011529478.2:c.	N/A	Intron Variant
CXADR transcript variant X5	XM_011529479.1:c.	N/A	Intron Variant
CXADR transcript variant X1	XR_001754814.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.949	G=0.051
1000Genomes	American	Sub	694	A=0.420	G=0.580
1000Genomes	East Asian	Sub	1008	A=0.442	G=0.558
1000Genomes	Europe	Sub	1006	A=0.399	G=0.601
1000Genomes	Global	Study-wide	5008	A=0.564	G=0.436
1000Genomes	South Asian	Sub	978	A=0.440	G=0.560
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.382	G=0.618
The Genome Aggregation Database	African	Sub	8698	A=0.867	G=0.133
The Genome Aggregation Database	American	Sub	838	A=0.380	G=0.620
The Genome Aggregation Database	East Asian	Sub	1604	A=0.509	G=0.491
The Genome Aggregation Database	Europe	Sub	18442	A=0.367	G=0.632
The Genome Aggregation Database	Global	Study-wide	29882	A=0.521	G=0.478
The Genome Aggregation Database	Other	Sub	300	A=0.460	G=0.540
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.612	G=0.387
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.372	G=0.628

PMID	Title	Author	Journal
17158188	Novel genes identified in a high-density genome wide association study for nicotine dependence.	Bierut LJ	Hum Mol Genet

SNP ID	p-value	Traits	Study
rs2249449	0.000856	nicotine dependence	17158188

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

rs2249449