SNP Detail Info-rs11727470

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0358 (10726/29916,GnomAD)
A==0427 (12439/29118,TOPMED)
A==0420 (2104/5008,1000G)
A==0288 (1109/3854,ALSPAC)
A==0273 (1012/3708,TWINSUK)

Position: chr4:30542392 (GRCh38.p7) (4p15.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.30542392A>G
GRCh37.p13 chr 4	NC_000004.11:g.30544014A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.595	G=0.405
1000Genomes	American	Sub	694	A=0.350	G=0.650
1000Genomes	East Asian	Sub	1008	A=0.418	G=0.582
1000Genomes	Europe	Sub	1006	A=0.296	G=0.704
1000Genomes	Global	Study-wide	5008	A=0.420	G=0.580
1000Genomes	South Asian	Sub	978	A=0.360	G=0.640
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.288	G=0.712
The Genome Aggregation Database	African	Sub	8706	A=0.548	G=0.452
The Genome Aggregation Database	American	Sub	836	A=0.300	G=0.700
The Genome Aggregation Database	East Asian	Sub	1612	A=0.477	G=0.523
The Genome Aggregation Database	Europe	Sub	18460	A=0.261	G=0.738
The Genome Aggregation Database	Global	Study-wide	29916	A=0.358	G=0.641
The Genome Aggregation Database	Other	Sub	302	A=0.360	G=0.640
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.427	G=0.572
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.273	G=0.727

PMID	Title	Author	Journal
20202923	A genome-wide association study of alcohol dependence.	Bierut LJ	Proc Natl Acad Sci U S A

SNP ID	p-value	Traits	Study
rs11727470	9.68E-06	alcohol dependence	20202923

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

rs11727470