SNP Detail Info-rs2824695

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CHODL : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0094 (2822/29958,GnomAD)
G=0121 (3546/29118,TOPMED)
G=0125 (628/5008,1000G)
G=0052 (200/3854,ALSPAC)
G=0049 (181/3708,TWINSUK)

Position: chr21:18186741 (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
CHODL transcript variant 3	NM_001204175.1:c.	N/A	Intron Variant
CHODL transcript variant 4	NM_001204176.1:c.	N/A	Intron Variant
CHODL transcript variant 5	NM_001204177.1:c.	N/A	Intron Variant
CHODL transcript variant 6	NM_001204178.1:c.	N/A	Intron Variant
CHODL transcript variant 2	NM_001204174.1:c.	N/A	Genic Upstream Transcript Variant
CHODL transcript variant 1	NM_024944.2:c.	N/A	Genic Upstream Transcript Variant
CHODL transcript variant X3	XM_011529457.2:c.	N/A	Intron Variant
CHODL transcript variant X2	XM_011529453.2:c.	N/A	Genic Upstream Transcript Variant
CHODL transcript variant X1	XM_017028273.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.759	G=0.241
1000Genomes	American	Sub	694	A=0.950	G=0.050
1000Genomes	East Asian	Sub	1008	A=0.928	G=0.072
1000Genomes	Europe	Sub	1006	A=0.949	G=0.051
1000Genomes	Global	Study-wide	5008	A=0.875	G=0.125
1000Genomes	South Asian	Sub	978	A=0.840	G=0.160
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.948	G=0.052
The Genome Aggregation Database	African	Sub	8724	A=0.783	G=0.217
The Genome Aggregation Database	American	Sub	836	A=0.970	G=0.030
The Genome Aggregation Database	East Asian	Sub	1616	A=0.938	G=0.062
The Genome Aggregation Database	Europe	Sub	18480	A=0.958	G=0.041
The Genome Aggregation Database	Global	Study-wide	29958	A=0.905	G=0.094
The Genome Aggregation Database	Other	Sub	302	A=0.910	G=0.090
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.878	G=0.121
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.951	G=0.049

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
rs2824695	0.000489	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

rs2824695