SNP Detail Info-rs12513014

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0177 (5325/29952,GnomAD)
G=0155 (4514/29118,TOPMED)
G=0292 (1462/5008,1000G)
G=0149 (573/3854,ALSPAC)
G=0155 (573/3708,TWINSUK)

Position: chr4:80140268 (GRCh38.p7) (4q21.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 7 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.80140268A>G
GRCh37.p13 chr 4	NC_000004.11:g.81061422A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.905	G=0.095
1000Genomes	American	Sub	694	A=0.590	G=0.410
1000Genomes	East Asian	Sub	1008	A=0.384	G=0.616
1000Genomes	Europe	Sub	1006	A=0.857	G=0.143
1000Genomes	Global	Study-wide	5008	A=0.708	G=0.292
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=0.851	G=0.149
The Genome Aggregation Database	African	Sub	8722	A=0.900	G=0.100
The Genome Aggregation Database	American	Sub	838	A=0.570	G=0.430
The Genome Aggregation Database	East Asian	Sub	1604	A=0.430	G=0.570
The Genome Aggregation Database	Europe	Sub	18486	A=0.830	G=0.169
The Genome Aggregation Database	Global	Study-wide	29952	A=0.822	G=0.177
The Genome Aggregation Database	Other	Sub	302	A=0.860	G=0.140
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.845	G=0.155
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.845	G=0.155

PMID	Title	Author	Journal
23089632	A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.	Wang JC	Mol Psychiatry

SNP ID	p-value	Traits	Study
rs12513014	1.38E-05	alcohol dependence	23089632

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 )
chr4	81103767	81104024	E067	42345
chr4	81103303	81103350	E068	41881
chr4	81103379	81103756	E068	41957
chr4	81103767	81104024	E070	42345
chr4	81103379	81103756	E073	41957
chr4	81075863	81076038	E081	14441
chr4	81076176	81076316	E081	14754
chr4	81076608	81076998	E081	15186
chr4	81103767	81104024	E081	42345
chr4	81075054	81075623	E082	13632
chr4	81075863	81076038	E082	14441
chr4	81076176	81076316	E082	14754
chr4	81103767	81104024	E082	42345

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr4	81104047	81108150	E067	42625
chr4	81104047	81108150	E068	42625
chr4	81104047	81108150	E071	42625
chr4	81104047	81108150	E072	42625
chr4	81104047	81108150	E073	42625
chr4	81104047	81108150	E074	42625
chr4	81104047	81108150	E082	42625

rs12513014