rs1059595

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0196 (5867/29938,GnomAD)
G=0214 (6240/29116,TOPMED)
G=0308 (1540/5008,1000G)
G=0144 (555/3854,ALSPAC)
G=0139 (516/3708,TWINSUK)

Position: chr1:231522555 (GRCh38.p7) (1q42.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 26 Enhancers around

Promoter: 30 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.231522555A>G
GRCh37.p13 chr 1	NC_000001.10:g.231658301A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.720	G=0.280
1000Genomes	American	Sub	694	A=0.800	G=0.200
1000Genomes	East Asian	Sub	1008	A=0.481	G=0.519
1000Genomes	Europe	Sub	1006	A=0.861	G=0.139
1000Genomes	Global	Study-wide	5008	A=0.692	G=0.308
1000Genomes	South Asian	Sub	978	A=0.620	G=0.380
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.856	G=0.144
The Genome Aggregation Database	African	Sub	8708	A=0.749	G=0.251
The Genome Aggregation Database	American	Sub	830	A=0.800	G=0.200
The Genome Aggregation Database	East Asian	Sub	1606	A=0.524	G=0.476
The Genome Aggregation Database	Europe	Sub	18492	A=0.853	G=0.146
The Genome Aggregation Database	Global	Study-wide	29938	A=0.804	G=0.196
The Genome Aggregation Database	Other	Sub	302	A=0.840	G=0.160
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.785	G=0.214
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.861	G=0.139

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs1059595	0.000714	alcohol dependence	21314694

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

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	231621729	231621779	E067	-36522
chr1	231670522	231670566	E067	12221
chr1	231670633	231670870	E067	12332
chr1	231682550	231682786	E067	24249
chr1	231667635	231667685	E069	9334
chr1	231667942	231668040	E069	9641
chr1	231670522	231670566	E069	12221
chr1	231682550	231682786	E071	24249
chr1	231693248	231693380	E071	34947
chr1	231693860	231693953	E071	35559
chr1	231694083	231694153	E071	35782
chr1	231667635	231667685	E072	9334
chr1	231667942	231668040	E072	9641
chr1	231670522	231670566	E072	12221
chr1	231670633	231670870	E072	12332
chr1	231685648	231685858	E072	27347
chr1	231693860	231693953	E072	35559
chr1	231694083	231694153	E072	35782
chr1	231670522	231670566	E073	12221
chr1	231670633	231670870	E073	12332
chr1	231621275	231621388	E074	-36913
chr1	231670522	231670566	E074	12221
chr1	231670633	231670870	E074	12332
chr1	231689334	231689398	E074	31033
chr1	231682550	231682786	E081	24249
chr1	231667942	231668040	E082	9641

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	231663353	231664924	E067	5052
chr1	231665005	231665078	E067	6704
chr1	231665079	231665299	E067	6778
chr1	231663353	231664924	E068	5052
chr1	231665005	231665078	E068	6704
chr1	231665079	231665299	E068	6778
chr1	231663353	231664924	E069	5052
chr1	231665005	231665078	E069	6704
chr1	231665079	231665299	E069	6778
chr1	231663353	231664924	E070	5052
chr1	231665005	231665078	E070	6704
chr1	231665079	231665299	E070	6778
chr1	231663353	231664924	E071	5052
chr1	231665005	231665078	E071	6704
chr1	231665079	231665299	E071	6778
chr1	231663353	231664924	E072	5052
chr1	231665005	231665078	E072	6704
chr1	231665079	231665299	E072	6778
chr1	231663353	231664924	E073	5052
chr1	231665005	231665078	E073	6704
chr1	231665079	231665299	E073	6778
chr1	231663353	231664924	E074	5052
chr1	231665005	231665078	E074	6704
chr1	231665079	231665299	E074	6778
chr1	231663353	231664924	E081	5052
chr1	231665005	231665078	E081	6704
chr1	231665079	231665299	E081	6778
chr1	231663353	231664924	E082	5052
chr1	231665005	231665078	E082	6704
chr1	231665079	231665299	E082	6778