rs12561944

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0083 (2500/29948,GnomAD)
G=0104 (3033/29118,TOPMED)
G=0142 (713/5008,1000G)
G=0066 (253/3854,ALSPAC)
G=0065 (240/3708,TWINSUK)

Position: chr1:70444382 (GRCh38.p7) (1p31.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 21 Enhancers around

Promoter: 38 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.70444382A>G
GRCh37.p13 chr 1	NC_000001.10:g.70910065A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.871	G=0.129
1000Genomes	American	Sub	694	A=0.930	G=0.070
1000Genomes	East Asian	Sub	1008	A=0.789	G=0.211
1000Genomes	Europe	Sub	1006	A=0.912	G=0.088
1000Genomes	Global	Study-wide	5008	A=0.858	G=0.142
1000Genomes	South Asian	Sub	978	A=0.800	G=0.200
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.934	G=0.066
The Genome Aggregation Database	African	Sub	8710	A=0.882	G=0.118
The Genome Aggregation Database	American	Sub	834	A=0.930	G=0.070
The Genome Aggregation Database	East Asian	Sub	1618	A=0.800	G=0.200
The Genome Aggregation Database	Europe	Sub	18484	A=0.942	G=0.057
The Genome Aggregation Database	Global	Study-wide	29948	A=0.916	G=0.083
The Genome Aggregation Database	Other	Sub	302	A=0.910	G=0.090
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.895	G=0.104
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.935	G=0.065

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs12561944	0.000046	alcohol dependence	20201924
rs12561944	0.0000465	alcoholism	pha002892
rs12561944	0.0000887	alcoholism	pha002893
rs12561944	0.000089	alcohol dependence(Early Onset)	20201924

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	70923661	70924305	E067	13596
chr1	70924367	70924472	E067	14302
chr1	70923661	70924305	E068	13596
chr1	70924367	70924472	E068	14302
chr1	70923661	70924305	E069	13596
chr1	70924367	70924472	E069	14302
chr1	70907967	70908574	E070	-1491
chr1	70923661	70924305	E071	13596
chr1	70924367	70924472	E071	14302
chr1	70866034	70866279	E072	-43786
chr1	70866382	70866521	E072	-43544
chr1	70923661	70924305	E072	13596
chr1	70924367	70924472	E072	14302
chr1	70923661	70924305	E073	13596
chr1	70923661	70924305	E074	13596
chr1	70923661	70924305	E081	13596
chr1	70924367	70924472	E081	14302
chr1	70924699	70924749	E081	14634
chr1	70923661	70924305	E082	13596
chr1	70924367	70924472	E082	14302
chr1	70924699	70924749	E082	14634

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	70875889	70877689	E067	-32376
chr1	70877745	70878037	E067	-32028
chr1	70878293	70878356	E067	-31709
chr1	70878499	70878870	E067	-31195
chr1	70875889	70877689	E068	-32376
chr1	70877745	70878037	E068	-32028
chr1	70878293	70878356	E068	-31709
chr1	70878499	70878870	E068	-31195
chr1	70875889	70877689	E069	-32376
chr1	70877745	70878037	E069	-32028
chr1	70878293	70878356	E069	-31709
chr1	70878499	70878870	E069	-31195
chr1	70875889	70877689	E070	-32376
chr1	70877745	70878037	E070	-32028
chr1	70878293	70878356	E070	-31709
chr1	70878499	70878870	E070	-31195
chr1	70875889	70877689	E071	-32376
chr1	70877745	70878037	E071	-32028
chr1	70878293	70878356	E071	-31709
chr1	70878499	70878870	E071	-31195
chr1	70875889	70877689	E072	-32376
chr1	70877745	70878037	E072	-32028
chr1	70878293	70878356	E072	-31709
chr1	70878499	70878870	E072	-31195
chr1	70875889	70877689	E073	-32376
chr1	70877745	70878037	E073	-32028
chr1	70878293	70878356	E073	-31709
chr1	70878499	70878870	E073	-31195
chr1	70875889	70877689	E074	-32376
chr1	70877745	70878037	E074	-32028
chr1	70878293	70878356	E074	-31709
chr1	70878499	70878870	E074	-31195
chr1	70875889	70877689	E081	-32376
chr1	70877745	70878037	E081	-32028
chr1	70875889	70877689	E082	-32376
chr1	70877745	70878037	E082	-32028
chr1	70878293	70878356	E082	-31709
chr1	70878499	70878870	E082	-31195