SNP Detail Info-rs12147371

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105370504 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0224 (6722/29896,GnomAD)
A=0221 (6439/29118,TOPMED)
A=0185 (925/5008,1000G)
A=0256 (987/3854,ALSPAC)
A=0263 (976/3708,TWINSUK)

Position: chr14:53405676 (GRCh38.p7) (14q22.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 9 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.53405676G>A
GRCh37.p13 chr 14	NC_000014.8:g.53872394G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370504 transcript variant X1	XR_001750969.1:n.	N/A	Intron Variant
LOC105370504 transcript variant X4	XR_001750971.1:n.	N/A	Intron Variant
LOC105370504 transcript variant X5	XR_001750972.1:n.	N/A	Intron Variant
LOC105370504 transcript variant X8	XR_001750974.1:n.	N/A	Intron Variant
LOC105370504 transcript variant X9	XR_001750975.1:n.	N/A	Intron Variant
LOC105370504 transcript variant X10	XR_001750976.1:n.	N/A	Intron Variant
LOC105370504 transcript variant X3	XR_943876.2:n.	N/A	Intron Variant
LOC105370504 transcript variant X6	XR_943877.2:n.	N/A	Intron Variant
LOC105370504 transcript variant X11	XR_943879.2:n.	N/A	Intron Variant
LOC105370504 transcript variant X2	XR_001750970.1:n.	N/A	Genic Upstream Transcript Variant
LOC105370504 transcript variant X7	XR_001750973.1:n.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.875	A=0.125
1000Genomes	American	Sub	694	G=0.860	A=0.140
1000Genomes	East Asian	Sub	1008	G=0.798	A=0.202
1000Genomes	Europe	Sub	1006	G=0.763	A=0.237
1000Genomes	Global	Study-wide	5008	G=0.815	A=0.185
1000Genomes	South Asian	Sub	978	G=0.780	A=0.220
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.744	A=0.256
The Genome Aggregation Database	African	Sub	8722	G=0.844	A=0.156
The Genome Aggregation Database	American	Sub	832	G=0.820	A=0.180
The Genome Aggregation Database	East Asian	Sub	1594	G=0.780	A=0.220
The Genome Aggregation Database	Europe	Sub	18446	G=0.739	A=0.260
The Genome Aggregation Database	Global	Study-wide	29896	G=0.775	A=0.224
The Genome Aggregation Database	Other	Sub	302	G=0.790	A=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.778	A=0.221
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.737	A=0.263

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
rs12147371	0.000987	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 )
chr14	53822994	53823352	E067	-49042
chr14	53822994	53823352	E069	-49042
chr14	53822994	53823352	E071	-49042
chr14	53823419	53823746	E071	-48648
chr14	53822994	53823352	E072	-49042
chr14	53823419	53823746	E072	-48648
chr14	53822994	53823352	E073	-49042
chr14	53822994	53823352	E074	-49042
chr14	53823419	53823746	E074	-48648

rs12147371