SNP Detail Info-rs6830239

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0107 (3227/29938,GnomAD)
G==0121 (3527/29118,TOPMED)
G==0099 (495/5008,1000G)
G==0131 (504/3854,ALSPAC)
G==0124 (461/3708,TWINSUK)

Position: chr4:171226645 (GRCh38.p7) (4q34.1)

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 4	NC_000004.12:g.171226645G>A
GRCh37.p13 chr 4	NC_000004.11:g.172147796G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.145	A=0.855
1000Genomes	American	Sub	694	G=0.070	A=0.930
1000Genomes	East Asian	Sub	1008	G=0.072	A=0.928
1000Genomes	Europe	Sub	1006	G=0.114	A=0.886
1000Genomes	Global	Study-wide	5008	G=0.099	A=0.901
1000Genomes	South Asian	Sub	978	G=0.070	A=0.930
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.131	A=0.869
The Genome Aggregation Database	African	Sub	8718	G=0.138	A=0.862
The Genome Aggregation Database	American	Sub	838	G=0.060	A=0.940
The Genome Aggregation Database	East Asian	Sub	1608	G=0.052	A=0.948
The Genome Aggregation Database	Europe	Sub	18472	G=0.100	A=0.899
The Genome Aggregation Database	Global	Study-wide	29938	G=0.107	A=0.892
The Genome Aggregation Database	Other	Sub	302	G=0.120	A=0.880
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.121	A=0.878
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.124	A=0.876

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs6830239	0.000132	alcohol consumption (maxi-drinks)	24277619

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

rs6830239