SNP Detail Info-rs220394

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0143 (4309/29952,GnomAD)
G==0150 (4381/29118,TOPMED)
G==0134 (672/5008,1000G)
G==0154 (593/3854,ALSPAC)
G==0160 (595/3708,TWINSUK)

Position: chr6:86175791 (GRCh38.p7) (6q14.3)

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 6	NC_000006.12:g.86175791G>A
GRCh37.p13 chr 6	NC_000006.11:g.86885509G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.132	A=0.868
1000Genomes	American	Sub	694	G=0.110	A=0.890
1000Genomes	East Asian	Sub	1008	G=0.062	A=0.938
1000Genomes	Europe	Sub	1006	G=0.190	A=0.810
1000Genomes	Global	Study-wide	5008	G=0.134	A=0.866
1000Genomes	South Asian	Sub	978	G=0.170	A=0.830
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.154	A=0.846
The Genome Aggregation Database	African	Sub	8720	G=0.129	A=0.871
The Genome Aggregation Database	American	Sub	838	G=0.110	A=0.890
The Genome Aggregation Database	East Asian	Sub	1608	G=0.030	A=0.970
The Genome Aggregation Database	Europe	Sub	18484	G=0.160	A=0.839
The Genome Aggregation Database	Global	Study-wide	29952	G=0.143	A=0.856
The Genome Aggregation Database	Other	Sub	302	G=0.240	A=0.760
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.150	A=0.849
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.160	A=0.840

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
rs220394	0.000685	alcohol dependence	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr6:86885509	PKMP3	ENSG00000220563.1	G>A	3.5628e-9	515185	Cerebellum

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

rs220394