SNP Detail Info-rs13171094

Organism: Homo sapiens

Alleles: A>G / A>T

Gene : Feature

LOC105379145 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0094 (2843/29958,GnomAD)
T=0101 (2953/29118,TOPMED)
T=0085 (425/5008,1000G)

Position: chr5:120447451 (GRCh38.p7) (5q23.1)

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
LOC105379145 transcript variant X2	XR_001742861.1:n.	N/A	Intron Variant
LOC105379145 transcript variant X1	XR_948708.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.837	T=0.163
1000Genomes	American	Sub	694	A=0.940	T=0.060
1000Genomes	East Asian	Sub	1008	A=0.980	T=0.020
1000Genomes	Europe	Sub	1006	A=0.918	T=0.082
1000Genomes	Global	Study-wide	5008	A=0.915	T=0.085
1000Genomes	South Asian	Sub	978	A=0.930	T=0.070
The Genome Aggregation Database	African	Sub	8720	A=0.855	T=0.145
The Genome Aggregation Database	American	Sub	838	A=0.950	T=0.050
The Genome Aggregation Database	East Asian	Sub	1618	A=0.972	T=0.028
The Genome Aggregation Database	Europe	Sub	18480	A=0.920	T=0.079
The Genome Aggregation Database	Global	Study-wide	29958	A=0.905	T=0.094
The Genome Aggregation Database	Other	Sub	302	A=0.920	T=0.080
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.898	T=0.101

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs13171094	1.98E-05	alcohol consumption	23743675

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

rs13171094