rs13082246

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ALDH1L1-AS2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0378 (11322/29926,GnomAD)
G==0384 (11192/29118,TOPMED)
G==0391 (1959/5008,1000G)
G==0394 (1517/3854,ALSPAC)
G==0383 (1421/3708,TWINSUK)

Position: chr3:126192112 (GRCh38.p7) (3q21.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 29 Enhancers around

Promoter: 36 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.126192112G>A
GRCh37.p13 chr 3	NC_000003.11:g.125910955G>A

Molecule type	Change	Amino acid[Codon]	SO Term
ALDH1L1-AS2 transcript	NR_046383.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.370	A=0.630
1000Genomes	American	Sub	694	G=0.400	A=0.600
1000Genomes	East Asian	Sub	1008	G=0.393	A=0.607
1000Genomes	Europe	Sub	1006	G=0.348	A=0.652
1000Genomes	Global	Study-wide	5008	G=0.391	A=0.609
1000Genomes	South Asian	Sub	978	G=0.460	A=0.540
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.394	A=0.606
The Genome Aggregation Database	African	Sub	8700	G=0.373	A=0.627
The Genome Aggregation Database	American	Sub	838	G=0.410	A=0.590
The Genome Aggregation Database	East Asian	Sub	1608	G=0.366	A=0.634
The Genome Aggregation Database	Europe	Sub	18478	G=0.380	A=0.619
The Genome Aggregation Database	Global	Study-wide	29926	G=0.378	A=0.621
The Genome Aggregation Database	Other	Sub	302	G=0.400	A=0.600
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.384	A=0.615
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.383	A=0.617

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
rs13082246	0.000762	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

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr3	125933092	125933152	E067	22137
chr3	125925524	125925609	E068	14569
chr3	125927123	125927349	E068	16168
chr3	125927518	125927758	E068	16563
chr3	125945310	125945585	E068	34355
chr3	125921236	125921433	E069	10281
chr3	125927123	125927349	E070	16168
chr3	125927518	125927758	E070	16563
chr3	125927518	125927758	E071	16563
chr3	125933092	125933152	E071	22137
chr3	125921236	125921433	E072	10281
chr3	125878106	125878289	E073	-32666
chr3	125921236	125921433	E073	10281
chr3	125927123	125927349	E073	16168
chr3	125927518	125927758	E073	16563
chr3	125928006	125928087	E073	17051
chr3	125933092	125933152	E073	22137
chr3	125903304	125903409	E074	-7546
chr3	125921236	125921433	E074	10281
chr3	125927123	125927349	E074	16168
chr3	125927518	125927758	E074	16563
chr3	125928006	125928087	E074	17051
chr3	125933092	125933152	E074	22137
chr3	125921236	125921433	E081	10281
chr3	125922225	125922431	E081	11270
chr3	125924487	125924587	E081	13532
chr3	125925081	125925414	E081	14126
chr3	125933092	125933152	E081	22137
chr3	125921236	125921433	E082	10281

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr3	125898194	125898244	E067	-12711
chr3	125898362	125899209	E067	-11746
chr3	125899244	125900199	E067	-10756
chr3	125931437	125932766	E067	20482
chr3	125897759	125898050	E068	-12905
chr3	125898194	125898244	E068	-12711
chr3	125898362	125899209	E068	-11746
chr3	125899244	125900199	E068	-10756
chr3	125931437	125932766	E068	20482
chr3	125897759	125898050	E069	-12905
chr3	125898194	125898244	E069	-12711
chr3	125898362	125899209	E069	-11746
chr3	125899244	125900199	E069	-10756
chr3	125931437	125932766	E069	20482
chr3	125931437	125932766	E070	20482
chr3	125897759	125898050	E071	-12905
chr3	125898194	125898244	E071	-12711
chr3	125898362	125899209	E071	-11746
chr3	125899244	125900199	E071	-10756
chr3	125931437	125932766	E071	20482
chr3	125898194	125898244	E072	-12711
chr3	125898362	125899209	E072	-11746
chr3	125899244	125900199	E072	-10756
chr3	125931437	125932766	E072	20482
chr3	125897759	125898050	E073	-12905
chr3	125898194	125898244	E073	-12711
chr3	125898362	125899209	E073	-11746
chr3	125899244	125900199	E073	-10756
chr3	125931437	125932766	E073	20482
chr3	125897759	125898050	E074	-12905
chr3	125898194	125898244	E074	-12711
chr3	125898362	125899209	E074	-11746
chr3	125899244	125900199	E074	-10756
chr3	125931437	125932766	E074	20482
chr3	125899244	125900199	E082	-10756
chr3	125931437	125932766	E082	20482