SNP Detail Info-rs664051

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0178 (5338/29982,GnomAD)
G==0178 (5185/29118,TOPMED)
G==0157 (785/5008,1000G)
G==0208 (800/3854,ALSPAC)
G==0201 (745/3708,TWINSUK)

Position: chr1:70403433 (GRCh38.p7) (1p31.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 10 Enhancers around

Promoter: 46 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.70403433G>A
GRCh37.p13 chr 1	NC_000001.10:g.70869116G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.180	A=0.820
1000Genomes	American	Sub	694	G=0.100	A=0.900
1000Genomes	East Asian	Sub	1008	G=0.116	A=0.884
1000Genomes	Europe	Sub	1006	G=0.203	A=0.797
1000Genomes	Global	Study-wide	5008	G=0.157	A=0.843
1000Genomes	South Asian	Sub	978	G=0.160	A=0.840
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.208	A=0.792
The Genome Aggregation Database	African	Sub	8720	G=0.173	A=0.827
The Genome Aggregation Database	American	Sub	838	G=0.120	A=0.880
The Genome Aggregation Database	East Asian	Sub	1622	G=0.089	A=0.911
The Genome Aggregation Database	Europe	Sub	18500	G=0.190	A=0.809
The Genome Aggregation Database	Global	Study-wide	29982	G=0.178	A=0.822
The Genome Aggregation Database	Other	Sub	302	G=0.220	A=0.780
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.178	A=0.821
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.201	A=0.799

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
rs664051	0.000294	alcohol dependence	24277619

eQTL of rs664051 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:70869116	HHLA3	ENSG00000197568.9	G>A	1.2578e-6	48628	Cerebellum
Chr1:70869116	HHLA3	ENSG00000197568.9	G>A	4.8979e-11	48628	Cortex
Chr1:70869116	HHLA3	ENSG00000197568.9	G>A	3.4195e-4	48628	Putamen_basal_ganglia

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	70821718	70821759	E068	-47357
chr1	70821856	70821968	E068	-47148
chr1	70907967	70908574	E070	38851
chr1	70821718	70821759	E072	-47357
chr1	70821856	70821968	E072	-47148
chr1	70866034	70866279	E072	-2837
chr1	70866382	70866521	E072	-2595
chr1	70822049	70822089	E073	-47027
chr1	70821718	70821759	E074	-47357
chr1	70821856	70821968	E074	-47148

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	70821025	70821228	E067	-47888
chr1	70875889	70877689	E067	6773
chr1	70877745	70878037	E067	8629
chr1	70878293	70878356	E067	9177
chr1	70878499	70878870	E067	9383
chr1	70821025	70821228	E068	-47888
chr1	70875889	70877689	E068	6773
chr1	70877745	70878037	E068	8629
chr1	70878293	70878356	E068	9177
chr1	70878499	70878870	E068	9383
chr1	70821025	70821228	E069	-47888
chr1	70875889	70877689	E069	6773
chr1	70877745	70878037	E069	8629
chr1	70878293	70878356	E069	9177
chr1	70878499	70878870	E069	9383
chr1	70821025	70821228	E070	-47888
chr1	70875889	70877689	E070	6773
chr1	70877745	70878037	E070	8629
chr1	70878293	70878356	E070	9177
chr1	70878499	70878870	E070	9383
chr1	70821025	70821228	E071	-47888
chr1	70875889	70877689	E071	6773
chr1	70877745	70878037	E071	8629
chr1	70878293	70878356	E071	9177
chr1	70878499	70878870	E071	9383
chr1	70821025	70821228	E072	-47888
chr1	70875889	70877689	E072	6773
chr1	70877745	70878037	E072	8629
chr1	70878293	70878356	E072	9177
chr1	70878499	70878870	E072	9383
chr1	70821025	70821228	E073	-47888
chr1	70875889	70877689	E073	6773
chr1	70877745	70878037	E073	8629
chr1	70878293	70878356	E073	9177
chr1	70878499	70878870	E073	9383
chr1	70821025	70821228	E074	-47888
chr1	70875889	70877689	E074	6773
chr1	70877745	70878037	E074	8629
chr1	70878293	70878356	E074	9177
chr1	70878499	70878870	E074	9383
chr1	70875889	70877689	E081	6773
chr1	70877745	70878037	E081	8629
chr1	70875889	70877689	E082	6773
chr1	70877745	70878037	E082	8629
chr1	70878293	70878356	E082	9177
chr1	70878499	70878870	E082	9383

rs664051