SNP Detail Info-rs1305295

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0133 (3993/29948,GnomAD)
A=0120 (3497/29118,TOPMED)
A=0178 (890/5008,1000G)
A=0135 (520/3854,ALSPAC)
A=0130 (482/3708,TWINSUK)

Position: chr12:17419308 (GRCh38.p7) (12p12.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.17419308G>A
GRCh37.p13 chr 12	NC_000012.11:g.17572242G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.918	A=0.082
1000Genomes	American	Sub	694	G=0.730	A=0.270
1000Genomes	East Asian	Sub	1008	G=0.743	A=0.257
1000Genomes	Europe	Sub	1006	G=0.872	A=0.128
1000Genomes	Global	Study-wide	5008	G=0.822	A=0.178
1000Genomes	South Asian	Sub	978	G=0.790	A=0.210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.865	A=0.135
The Genome Aggregation Database	African	Sub	8724	G=0.910	A=0.090
The Genome Aggregation Database	American	Sub	836	G=0.740	A=0.260
The Genome Aggregation Database	East Asian	Sub	1612	G=0.784	A=0.216
The Genome Aggregation Database	Europe	Sub	18474	G=0.857	A=0.142
The Genome Aggregation Database	Global	Study-wide	29948	G=0.866	A=0.133
The Genome Aggregation Database	Other	Sub	302	G=0.960	A=0.040
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.879	A=0.120
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.870	A=0.130

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
rs1305295	0.00022	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

rs1305295