SNP Detail Info-rs17796038

Organism: Homo sapiens

Alleles: G>A / G>T

Gene : Feature

LOC105370519 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0172 (5085/29552,GnomAD)
T=0120 (601/5008,1000G)
T=0217 (838/3854,ALSPAC)
T=0218 (807/3708,TWINSUK)

Position: chr14:57547477 (GRCh38.p7) (14q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370519 transcript	XR_943909.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.917	T=0.083
1000Genomes	American	Sub	694	G=0.820	T=0.180
1000Genomes	East Asian	Sub	1008	G=0.966	T=0.034
1000Genomes	Europe	Sub	1006	G=0.763	T=0.237
1000Genomes	Global	Study-wide	5008	G=0.880	T=0.120
1000Genomes	South Asian	Sub	978	G=0.900	T=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.783	T=0.217
The Genome Aggregation Database	African	Sub	8634	G=0.905	T=0.095
The Genome Aggregation Database	American	Sub	826	G=0.800	T=0.20,
The Genome Aggregation Database	East Asian	Sub	1616	G=0.965	T=0.034
The Genome Aggregation Database	Europe	Sub	18174	G=0.781	T=0.218
The Genome Aggregation Database	Global	Study-wide	29552	G=0.827	T=0.172
The Genome Aggregation Database	Other	Sub	302	G=0.760	T=0.24,
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.782	T=0.218

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs17796038	0.000309	alcohol consumption (maxi-drinks)	24277619

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr14	58025169	58025310	E070	-17443
chr14	58026120	58026185	E070	-16568
chr14	58032082	58032132	E070	-10621
chr14	58032173	58032442	E070	-10311
chr14	58032173	58032442	E081	-10311
chr14	58032771	58032821	E081	-9932
chr14	58032082	58032132	E082	-10621
chr14	58032173	58032442	E082	-10311
chr14	58032771	58032821	E082	-9932

rs17796038