SNP Detail Info-rs4379857

Organism: Homo sapiens

Alleles: G>A / G>T

Gene : Feature

OPCML : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0074 (2239/29946,GnomAD)
A=0058 (1689/29118,TOPMED)
A=0145 (728/5008,1000G)
A=0049 (189/3854,ALSPAC)
A=0050 (187/3708,TWINSUK)

Position: chr11:133313709 (GRCh38.p7) (11q25)

Phenotype: ND

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
OPCML transcript variant 2	NM_001012393.2:c.	N/A	Intron Variant
OPCML transcript variant 4	NM_001319104.1:c.	N/A	Intron Variant
OPCML transcript variant 3	NM_001319103.1:c.	N/A	Genic Upstream Transcript Variant
OPCML transcript variant 5	NM_001319105.1:c.	N/A	Genic Upstream Transcript Variant
OPCML transcript variant 6	NM_001319106.1:c.	N/A	Genic Upstream Transcript Variant
OPCML transcript variant 1	NM_002545.4:c.	N/A	Genic Upstream Transcript Variant
OPCML transcript variant X1	XM_006718846.2:c.	N/A	Intron Variant
OPCML transcript variant X2	XM_011542856.2:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.995	A=0.005
1000Genomes	American	Sub	694	G=0.730	A=0.270
1000Genomes	East Asian	Sub	1008	G=0.592	A=0.408
1000Genomes	Europe	Sub	1006	G=0.953	A=0.047
1000Genomes	Global	Study-wide	5008	G=0.855	A=0.145
1000Genomes	South Asian	Sub	978	G=0.920	A=0.080
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.951	A=0.049
The Genome Aggregation Database	African	Sub	8716	G=0.982	A=0.018
The Genome Aggregation Database	American	Sub	834	G=0.730	A=0.270
The Genome Aggregation Database	East Asian	Sub	1606	G=0.512	A=0.488
The Genome Aggregation Database	Europe	Sub	18488	G=0.942	A=0.057
The Genome Aggregation Database	Global	Study-wide	29946	G=0.925	A=0.074
The Genome Aggregation Database	Other	Sub	302	G=0.960	A=0.040
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.942	A=0.058
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.950	A=0.050

PMID	Title	Author	Journal
25043418	Molecular evolution in the CREB1 signal pathway and a rare haplotype in CREB1 with genetic predisposition to schizophrenia.	Ma L	J Psychiatr Res
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

SNP ID	p-value	Traits	Study
rs4379857	9.74E-05	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

rs4379857