rs158761

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0468 (14002/29876,GnomAD)
C==0418 (12192/29118,TOPMED)
C==0365 (1826/5008,1000G)
A=0416 (1604/3854,ALSPAC)
A=0412 (1528/3708,TWINSUK)

Position: chr1:22627879 (GRCh38.p7) (1p36.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 38 Enhancers around

Promoter: 31 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.22627879C>A
GRCh37.p13 chr 1	NC_000001.10:g.22954372C>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.181	A=0.819
1000Genomes	American	Sub	694	C=0.390	A=0.610
1000Genomes	East Asian	Sub	1008	C=0.390	A=0.610
1000Genomes	Europe	Sub	1006	C=0.572	A=0.428
1000Genomes	Global	Study-wide	5008	C=0.365	A=0.635
1000Genomes	South Asian	Sub	978	C=0.350	A=0.650
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.584	A=0.416
The Genome Aggregation Database	African	Sub	8706	C=0.242	A=0.758
The Genome Aggregation Database	American	Sub	836	C=0.390	A=0.610
The Genome Aggregation Database	East Asian	Sub	1616	C=0.427	A=0.573
The Genome Aggregation Database	Europe	Sub	18416	C=0.581	A=0.418
The Genome Aggregation Database	Global	Study-wide	29876	C=0.468	A=0.531
The Genome Aggregation Database	Other	Sub	302	C=0.580	A=0.420
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.418	A=0.581
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.588	A=0.412

PMID	Title	Author	Journal
20528885	Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus.	Rafiq S	Clin Exp Immunol
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
rs158761	0.000858	alcohol dependence	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

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	22952836	22953089	E067	-1283
chr1	22968897	22969090	E067	14525
chr1	22968279	22968352	E068	13907
chr1	22968897	22969090	E068	14525
chr1	23003741	23004175	E068	49369
chr1	22968897	22969090	E069	14525
chr1	23000050	23000289	E069	45678
chr1	22952836	22953089	E070	-1283
chr1	22968279	22968352	E070	13907
chr1	22999663	22999815	E070	45291
chr1	23000504	23000701	E070	46132
chr1	23003741	23004175	E070	49369
chr1	22968279	22968352	E071	13907
chr1	23000050	23000289	E071	45678
chr1	23003741	23004175	E071	49369
chr1	22967587	22967637	E072	13215
chr1	23000050	23000289	E072	45678
chr1	22968279	22968352	E073	13907
chr1	22968897	22969090	E073	14525
chr1	22968897	22969090	E074	14525
chr1	23000504	23000701	E074	46132
chr1	23003741	23004175	E074	49369
chr1	22939305	22939360	E081	-15012
chr1	22939443	22939493	E081	-14879
chr1	22952836	22953089	E081	-1283
chr1	22968279	22968352	E081	13907
chr1	22992381	22992554	E081	38009
chr1	22992769	22992958	E081	38397
chr1	22993052	22993210	E081	38680
chr1	22999663	22999815	E081	45291
chr1	23000050	23000289	E081	45678
chr1	23000504	23000701	E081	46132
chr1	23003741	23004175	E081	49369
chr1	22952836	22953089	E082	-1283
chr1	22992381	22992554	E082	38009
chr1	22992769	22992958	E082	38397
chr1	22993052	22993210	E082	38680
chr1	22999663	22999815	E082	45291

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	22981217	22981340	E067	26845
chr1	22982484	22982693	E067	28112
chr1	22982759	22982862	E067	28387
chr1	22963581	22963670	E068	9209
chr1	22963823	22963873	E068	9451
chr1	22972587	22972731	E068	18215
chr1	22981217	22981340	E068	26845
chr1	22982484	22982693	E068	28112
chr1	22982759	22982862	E068	28387
chr1	22963581	22963670	E069	9209
chr1	22963823	22963873	E069	9451
chr1	22972587	22972731	E069	18215
chr1	22981217	22981340	E069	26845
chr1	22963581	22963670	E071	9209
chr1	22963823	22963873	E071	9451
chr1	22969892	22970114	E071	15520
chr1	22972587	22972731	E071	18215
chr1	22981217	22981340	E071	26845
chr1	22982484	22982693	E071	28112
chr1	22982759	22982862	E071	28387
chr1	22963581	22963670	E072	9209
chr1	22963823	22963873	E072	9451
chr1	22981217	22981340	E072	26845
chr1	22963581	22963670	E073	9209
chr1	22963823	22963873	E073	9451
chr1	22972587	22972731	E073	18215
chr1	22963581	22963670	E074	9209
chr1	22963823	22963873	E074	9451
chr1	22972587	22972731	E074	18215
chr1	22981217	22981340	E074	26845
chr1	22982484	22982693	E074	28112