SNP Detail Info-rs12132422

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0285 (8533/29912,GnomAD)
G=0335 (9764/29118,TOPMED)
G=0278 (1392/5008,1000G)
G=0247 (952/3854,ALSPAC)
G=0261 (968/3708,TWINSUK)

Position: chr1:4235244 (GRCh38.p7) (1p36.32)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 14 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.4235244A>G
GRCh37.p13 chr 1	NC_000001.10:g.4295304A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.535	G=0.465
1000Genomes	American	Sub	694	A=0.800	G=0.200
1000Genomes	East Asian	Sub	1008	A=0.894	G=0.106
1000Genomes	Europe	Sub	1006	A=0.760	G=0.240
1000Genomes	Global	Study-wide	5008	A=0.722	G=0.278
1000Genomes	South Asian	Sub	978	A=0.710	G=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.753	G=0.247
The Genome Aggregation Database	African	Sub	8704	A=0.564	G=0.436
The Genome Aggregation Database	American	Sub	832	A=0.860	G=0.140
The Genome Aggregation Database	East Asian	Sub	1608	A=0.895	G=0.105
The Genome Aggregation Database	Europe	Sub	18466	A=0.762	G=0.237
The Genome Aggregation Database	Global	Study-wide	29912	A=0.714	G=0.285
The Genome Aggregation Database	Other	Sub	302	A=0.790	G=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.664	G=0.335
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.739	G=0.261

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs12132422	0.000432	alcohol dependence	20201924

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 )
chr1	4326943	4327027	E069	31639
chr1	4273920	4274048	E070	-21256
chr1	4326943	4327027	E070	31639
chr1	4327271	4327328	E070	31967
chr1	4327561	4327792	E070	32257
chr1	4273557	4273763	E073	-21541
chr1	4273557	4273763	E081	-21541
chr1	4273920	4274048	E081	-21256
chr1	4322889	4323358	E081	27585
chr1	4329656	4329758	E081	34352
chr1	4330613	4330782	E081	35309
chr1	4330794	4331107	E081	35490
chr1	4331379	4331448	E081	36075
chr1	4329656	4329758	E082	34352

rs12132422