SNP Detail Info-rs114469297

Organism: Homo sapiens

Alleles: A>C / A>G

Gene : Feature

RNF43 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0015 (458/29990,GnomAD)
G=0020 (98/5008,1000G)

Position: chr17:58411019 (GRCh38.p7) (17q22)

Phenotype: CD

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
RNF43 transcript variant 2	NM_001305544.1:c.	N/A	Intron Variant
RNF43 transcript variant 1	NM_017763.5:c.	N/A	Intron Variant
RNF43 transcript variant 3	NM_001305545.1:c.	N/A	Genic Upstream Transcript Variant
RNF43 transcript variant X1	XM_011524955.2:c.	N/A	Intron Variant
RNF43 transcript variant X3	XM_011524956.2:c.	N/A	Intron Variant
RNF43 transcript variant X2	XM_017024800.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.926	G=0.074
1000Genomes	American	Sub	694	A=1.000	G=0.000
1000Genomes	East Asian	Sub	1008	A=1.000	G=0.000
1000Genomes	Europe	Sub	1006	A=1.000	G=0.000
1000Genomes	Global	Study-wide	5008	A=0.980	G=0.020
1000Genomes	South Asian	Sub	978	A=1.000	G=0.000
The Genome Aggregation Database	African	Sub	8730	A=0.948	G=0.052
The Genome Aggregation Database	American	Sub	838	A=1.000	G=0.000
The Genome Aggregation Database	East Asian	Sub	1620	A=1.000	G=0.000
The Genome Aggregation Database	Europe	Sub	18500	A=0.999	G=0.000
The Genome Aggregation Database	Global	Study-wide	29990	A=0.984	G=0.015
The Genome Aggregation Database	Other	Sub	302	A=1.000	G=0.000

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
rs114469297	0.000707	cocaine dependence	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

rs114469297