SNP Detail Info-rs11958464

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0437 (13015/29760,GnomAD)
T=0492 (14353/29118,TOPMED)
T=0461 (2310/5008,1000G)
T=0367 (1414/3854,ALSPAC)
T=0367 (1361/3708,TWINSUK)

Position: chr5:46211801 (GRCh38.p7) (5p11)

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 5	NC_000005.10:g.46211801C>T
GRCh37.p13 chr 5	NC_000005.9:g.46211903C>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.310	T=0.690
1000Genomes	American	Sub	694	C=0.660	T=0.340
1000Genomes	East Asian	Sub	1008	C=0.531	T=0.469
1000Genomes	Europe	Sub	1006	C=0.666	T=0.334
1000Genomes	Global	Study-wide	5008	C=0.539	T=0.461
1000Genomes	South Asian	Sub	978	C=0.640	T=0.360
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.633	T=0.367
The Genome Aggregation Database	African	Sub	8698	C=0.336	T=0.664
The Genome Aggregation Database	American	Sub	832	C=0.660	T=0.340
The Genome Aggregation Database	East Asian	Sub	1572	C=0.488	T=0.512
The Genome Aggregation Database	Europe	Sub	18356	C=0.670	T=0.329
The Genome Aggregation Database	Global	Study-wide	29760	C=0.562	T=0.437
The Genome Aggregation Database	Other	Sub	302	C=0.680	T=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.507	T=0.492
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.633	T=0.367

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
rs11958464	0.000371	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
cg15950743	chr5:49708521	EMB	-0.0836148609967316	3.2068e-29

rs11958464