SNP Detail Info-rs2005290

Organism: Homo sapiens

Alleles: C>G

Gene : Feature

OR3A2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0041 (987/23692,GnomAD)
G=0165 (824/5008,1000G)

Position: chr17:3284718 (GRCh38.p7) (17p13.3)

Phenotype: CD

Dataset:

GWASdb2 | GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 17	NC_000017.11:g.3284718C>G
GRCh37.p13 chr 17	NC_000017.10:g.3188012C>G

Molecule type	Change	Amino acid[Codon]	SO Term
OR3A2 transcript	NM_002551.3:c.	N/A	Genic Upstream Transcript Variant
OR3A2 transcript variant X1	XM_017024697.1:c.	N/A	Intron Variant
OR3A2 transcript variant X3	XM_017024698.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.722	G=0.278
1000Genomes	American	Sub	694	C=0.870	G=0.130
1000Genomes	East Asian	Sub	1008	C=0.935	G=0.065
1000Genomes	Europe	Sub	1006	C=0.905	G=0.095
1000Genomes	Global	Study-wide	5008	C=0.835	G=0.165
1000Genomes	South Asian	Sub	978	C=0.790	G=0.210
The Genome Aggregation Database	African	Sub	5684	C=0.879	G=0.121
The Genome Aggregation Database	American	Sub	650	C=0.960	G=0.040
The Genome Aggregation Database	East Asian	Sub	1442	C=0.992	G=0.008
The Genome Aggregation Database	Europe	Sub	15662	C=0.983	G=0.016
The Genome Aggregation Database	Global	Study-wide	23692	C=0.958	G=0.041
The Genome Aggregation Database	Other	Sub	254	C=0.980	G=0.020

PMID	Title	Author	Journal
23958962	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Gelernter J	Mol Psychiatry

SNP ID	p-value	Traits	Study
rs2005290	0.0000004	cocaine dependence(ALL)	23958962
rs2005290	0.000002	cocaine dependence(EA)	23958962

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

rs2005290