SNP Detail Info-rs2114904

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0298 (8935/29896,GnomAD)
G=0298 (8687/29118,TOPMED)
G=0326 (1633/5008,1000G)
G=0290 (1119/3854,ALSPAC)
G=0299 (1110/3708,TWINSUK)

Position: chr12:30815728 (GRCh38.p7) (12p11.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 23 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.30815728A>G
GRCh37.p13 chr 12	NC_000012.11:g.30968662A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.728	G=0.272
1000Genomes	American	Sub	694	A=0.780	G=0.220
1000Genomes	East Asian	Sub	1008	A=0.467	G=0.533
1000Genomes	Europe	Sub	1006	A=0.710	G=0.290
1000Genomes	Global	Study-wide	5008	A=0.674	G=0.326
1000Genomes	South Asian	Sub	978	A=0.700	G=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.710	G=0.290
The Genome Aggregation Database	African	Sub	8694	A=0.712	G=0.288
The Genome Aggregation Database	American	Sub	834	A=0.760	G=0.240
The Genome Aggregation Database	East Asian	Sub	1600	A=0.461	G=0.539
The Genome Aggregation Database	Europe	Sub	18466	A=0.716	G=0.283
The Genome Aggregation Database	Global	Study-wide	29896	A=0.701	G=0.298
The Genome Aggregation Database	Other	Sub	302	A=0.560	G=0.440
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.701	G=0.298
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.701	G=0.299

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
rs2114904	0.000549	alcohol dependence	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 )
chr12	30960061	30960191	E068	-8471
chr12	30974710	30974978	E069	6048
chr12	30974710	30974978	E071	6048
chr12	30960061	30960191	E073	-8471
chr12	30974710	30974978	E074	6048
chr12	30974710	30974978	E082	6048

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	30947498	30949719	E067	-18943
chr12	30949771	30950292	E067	-18370
chr12	30975073	30976659	E067	6411
chr12	30947498	30949719	E068	-18943
chr12	30949771	30950292	E068	-18370
chr12	30975073	30976659	E068	6411
chr12	30947498	30949719	E069	-18943
chr12	30949771	30950292	E069	-18370
chr12	30975073	30976659	E069	6411
chr12	30975073	30976659	E070	6411
chr12	30947498	30949719	E071	-18943
chr12	30975073	30976659	E071	6411
chr12	30947498	30949719	E072	-18943
chr12	30975073	30976659	E072	6411
chr12	30947498	30949719	E073	-18943
chr12	30949771	30950292	E073	-18370
chr12	30975073	30976659	E073	6411
chr12	30947498	30949719	E074	-18943
chr12	30949771	30950292	E074	-18370
chr12	30975073	30976659	E074	6411
chr12	31003593	31005136	E074	34931
chr12	30947498	30949719	E082	-18943
chr12	30975073	30976659	E082	6411

rs2114904