SNP Detail Info-rs428838

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0173 (5175/29906,GnomAD)
T==0158 (4600/29118,TOPMED)
T==0222 (1112/5008,1000G)
T==0199 (766/3854,ALSPAC)
T==0198 (734/3708,TWINSUK)

Position: chr8:87468674 (GRCh38.p7) (8q21.3)

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 8	NC_000008.11:g.87468674T>C
GRCh37.p13 chr 8	NC_000008.10:g.88480902T>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.082	C=0.918
1000Genomes	American	Sub	694	T=0.260	C=0.740
1000Genomes	East Asian	Sub	1008	T=0.394	C=0.606
1000Genomes	Europe	Sub	1006	T=0.214	C=0.786
1000Genomes	Global	Study-wide	5008	T=0.222	C=0.778
1000Genomes	South Asian	Sub	978	T=0.220	C=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.199	C=0.801
The Genome Aggregation Database	African	Sub	8726	T=0.095	C=0.905
The Genome Aggregation Database	American	Sub	838	T=0.260	C=0.740
The Genome Aggregation Database	East Asian	Sub	1612	T=0.400	C=0.600
The Genome Aggregation Database	Europe	Sub	18428	T=0.185	C=0.814
The Genome Aggregation Database	Global	Study-wide	29906	T=0.173	C=0.827
The Genome Aggregation Database	Other	Sub	302	T=0.240	C=0.760
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.158	C=0.842
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.198	C=0.802

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
rs428838	0.00027	alcohol dependence(early age of onset)	20201924
rs428838	0.00066	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
There is no meQTL annotation for this SNP

rs428838