SNP Detail Info-rs4134385

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0229 (6868/29944,GnomAD)
G=0293 (8540/29118,TOPMED)
G=0308 (1544/5008,1000G)
G=0148 (570/3854,ALSPAC)
G=0156 (577/3708,TWINSUK)

Position: chr20:23744382 (GRCh38.p7) (20p11.21)

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 20	NC_000020.11:g.23744382A>G
GRCh37.p13 chr 20	NC_000020.10:g.23725019A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.431	G=0.569
1000Genomes	American	Sub	694	A=0.770	G=0.230
1000Genomes	East Asian	Sub	1008	A=0.871	G=0.129
1000Genomes	Europe	Sub	1006	A=0.814	G=0.186
1000Genomes	Global	Study-wide	5008	A=0.692	G=0.308
1000Genomes	South Asian	Sub	978	A=0.680	G=0.320
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.852	G=0.148
The Genome Aggregation Database	African	Sub	8694	A=0.519	G=0.481
The Genome Aggregation Database	American	Sub	838	A=0.820	G=0.180
The Genome Aggregation Database	East Asian	Sub	1620	A=0.865	G=0.135
The Genome Aggregation Database	Europe	Sub	18490	A=0.877	G=0.122
The Genome Aggregation Database	Global	Study-wide	29944	A=0.770	G=0.229
The Genome Aggregation Database	Other	Sub	302	A=0.860	G=0.140
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.706	G=0.293
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.844	G=0.156

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
rs4134385	4.93E-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

rs4134385