SNP Detail Info-rs2241080

Organism: Homo sapiens

Alleles: G>A / G>T

Gene : Feature

AOX1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0287 (8583/29906,GnomAD)
A=0265 (7717/29118,TOPMED)
A=0361 (1808/5008,1000G)

Position: chr2:200662516 (GRCh38.p7) (2q33.1)

Phenotype: AD

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
AOX1 transcript	NM_001159.3:c.	N/A	Intron Variant
AOX1 transcript variant X1	XM_011511062.1:c.	N/A	Intron Variant
AOX1 transcript variant X2	XM_017003946.1:c.	N/A	Intron Variant
AOX1 transcript variant X3	XM_017003947.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.683	A=0.317
1000Genomes	American	Sub	694	G=0.640	A=0.360
1000Genomes	East Asian	Sub	1008	G=0.445	A=0.555
1000Genomes	Europe	Sub	1006	G=0.761	A=0.239
1000Genomes	Global	Study-wide	5008	G=0.639	A=0.361
1000Genomes	South Asian	Sub	978	G=0.660	A=0.340
The Genome Aggregation Database	African	Sub	8684	G=0.709	A=0.291
The Genome Aggregation Database	American	Sub	838	G=0.610	A=0.390
The Genome Aggregation Database	East Asian	Sub	1616	G=0.466	A=0.534
The Genome Aggregation Database	Europe	Sub	18466	G=0.740	A=0.259
The Genome Aggregation Database	Global	Study-wide	29906	G=0.713	A=0.287
The Genome Aggregation Database	Other	Sub	302	G=0.790	A=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.735	A=0.265

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs2241080	3.95E-05	alcohol dependence	21314694

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

rs2241080