SNP Detail Info-rs12531206

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0274 (8202/29874,GnomAD)
A=0248 (7243/29118,TOPMED)
A=0323 (1617/5008,1000G)
A=0294 (1133/3854,ALSPAC)
A=0291 (1080/3708,TWINSUK)

Position: chr7:50167936 (GRCh38.p7) (7p12.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.50167936G>A
GRCh37.p13 chr 7	NC_000007.13:g.50207532G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.866	A=0.134
1000Genomes	American	Sub	694	G=0.640	A=0.360
1000Genomes	East Asian	Sub	1008	G=0.304	A=0.696
1000Genomes	Europe	Sub	1006	G=0.702	A=0.298
1000Genomes	Global	Study-wide	5008	G=0.677	A=0.323
1000Genomes	South Asian	Sub	978	G=0.810	A=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.706	A=0.294
The Genome Aggregation Database	African	Sub	8692	G=0.847	A=0.153
The Genome Aggregation Database	American	Sub	838	G=0.630	A=0.370
The Genome Aggregation Database	East Asian	Sub	1618	G=0.294	A=0.706
The Genome Aggregation Database	Europe	Sub	18424	G=0.710	A=0.289
The Genome Aggregation Database	Global	Study-wide	29874	G=0.725	A=0.274
The Genome Aggregation Database	Other	Sub	302	G=0.700	A=0.300
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.751	A=0.248
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.709	A=0.291

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
rs12531206	5.47E-06	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 )
chr7	50244785	50245460	E071	37253
chr7	50246929	50247025	E071	39397
chr7	50256049	50256191	E071	48517
chr7	50256242	50256313	E071	48710
chr7	50256321	50256443	E071	48789
chr7	50256482	50256536	E071	48950

rs12531206