SNP Detail Info-rs7256140

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0199 (5967/29864,GnomAD)
T=0200 (5831/29118,TOPMED)
T=0200 (1002/5008,1000G)
T=0170 (656/3854,ALSPAC)
T=0160 (593/3708,TWINSUK)

Position: chr19:12299109 (GRCh38.p7) (19p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 22 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.12299109G>T
GRCh37.p13 chr 19	NC_000019.9:g.12409924G>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.786	T=0.214
1000Genomes	American	Sub	694	G=0.840	T=0.160
1000Genomes	East Asian	Sub	1008	G=0.746	T=0.254
1000Genomes	Europe	Sub	1006	G=0.830	T=0.170
1000Genomes	Global	Study-wide	5008	G=0.800	T=0.200
1000Genomes	South Asian	Sub	978	G=0.810	T=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.830	T=0.170
The Genome Aggregation Database	African	Sub	8696	G=0.777	T=0.223
The Genome Aggregation Database	American	Sub	838	G=0.850	T=0.150
The Genome Aggregation Database	East Asian	Sub	1602	G=0.693	T=0.307
The Genome Aggregation Database	Europe	Sub	18426	G=0.816	T=0.183
The Genome Aggregation Database	Global	Study-wide	29864	G=0.800	T=0.199
The Genome Aggregation Database	Other	Sub	302	G=0.870	T=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.799	T=0.200
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.840	T=0.160

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
rs7256140	0.000912	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:12409924	PRKCSH	ENSG00000130175.5	G>T	6.3818e-8	863815	Cerebellum

Probe ID	Position	Gene	beta	p-value
cg20127191	chr19:12306497		-0.0285271938984997	1.1487e-9

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr19	12445153	12445216	E068	35229
chr19	12403471	12403514	E070	-6410
chr19	12403550	12403635	E070	-6289
chr19	12445153	12445216	E070	35229
chr19	12445153	12445216	E071	35229
chr19	12445153	12445216	E072	35229
chr19	12403353	12403426	E073	-6498
chr19	12403471	12403514	E073	-6410
chr19	12403550	12403635	E073	-6289
chr19	12388871	12388923	E074	-21001
chr19	12388999	12389059	E074	-20865
chr19	12389635	12389675	E074	-20249
chr19	12389695	12389735	E074	-20189
chr19	12389785	12389835	E074	-20089
chr19	12390022	12390072	E074	-19852
chr19	12403471	12403514	E082	-6410
chr19	12403550	12403635	E082	-6289

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	12404346	12406467	E067	-3457
chr19	12443353	12445037	E067	33429
chr19	12404346	12406467	E068	-3457
chr19	12443353	12445037	E068	33429
chr19	12404346	12406467	E069	-3457
chr19	12443353	12445037	E069	33429
chr19	12404346	12406467	E070	-3457
chr19	12443353	12445037	E070	33429
chr19	12404346	12406467	E071	-3457
chr19	12443353	12445037	E071	33429
chr19	12404346	12406467	E072	-3457
chr19	12443353	12445037	E072	33429
chr19	12404346	12406467	E073	-3457
chr19	12443353	12445037	E073	33429
chr19	12361059	12361146	E074	-48778
chr19	12361262	12361312	E074	-48612
chr19	12404346	12406467	E074	-3457
chr19	12443353	12445037	E074	33429
chr19	12404346	12406467	E081	-3457
chr19	12443353	12445037	E081	33429
chr19	12404346	12406467	E082	-3457
chr19	12443353	12445037	E082	33429

rs7256140