SNP Detail Info-rs1832047

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0087 (2614/29958,GnomAD)
A=0069 (2026/29118,TOPMED)
A=0040 (198/5008,1000G)
A=0116 (448/3854,ALSPAC)
A=0128 (473/3708,TWINSUK)

Position: chr1:22940446 (GRCh38.p7) (1p36.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 39 Enhancers around

Promoter: 2 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.22940446G>A
GRCh37.p13 chr 1	NC_000001.10:g.23266939G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.992	A=0.008
1000Genomes	American	Sub	694	G=0.950	A=0.050
1000Genomes	East Asian	Sub	1008	G=0.999	A=0.001
1000Genomes	Europe	Sub	1006	G=0.885	A=0.115
1000Genomes	Global	Study-wide	5008	G=0.960	A=0.040
1000Genomes	South Asian	Sub	978	G=0.960	A=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.884	A=0.116
The Genome Aggregation Database	African	Sub	8730	G=0.978	A=0.022
The Genome Aggregation Database	American	Sub	838	G=0.950	A=0.050
The Genome Aggregation Database	East Asian	Sub	1620	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18468	G=0.872	A=0.127
The Genome Aggregation Database	Global	Study-wide	29958	G=0.912	A=0.087
The Genome Aggregation Database	Other	Sub	302	G=0.900	A=0.100
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.930	A=0.069
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.872	A=0.128

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
22137173	Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.	Sergouniotis PI	Am J Hum Genet

SNP ID	p-value	Traits	Study
rs1832047	0.00072	alcohol dependence	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	23242753	23242840	E067	-24099
chr1	23243036	23243327	E067	-23612
chr1	23242489	23242594	E068	-24345
chr1	23242753	23242840	E068	-24099
chr1	23243036	23243327	E068	-23612
chr1	23302734	23302806	E068	35795
chr1	23241231	23241314	E069	-25625
chr1	23241481	23241607	E069	-25332
chr1	23241654	23241773	E069	-25166
chr1	23241834	23241952	E069	-24987
chr1	23243036	23243327	E069	-23612
chr1	23256644	23256829	E070	-10110
chr1	23256878	23257135	E070	-9804
chr1	23295817	23296118	E070	28878
chr1	23296189	23296315	E070	29250
chr1	23240185	23240574	E071	-26365
chr1	23241654	23241773	E071	-25166
chr1	23241834	23241952	E071	-24987
chr1	23242489	23242594	E071	-24345
chr1	23242753	23242840	E071	-24099
chr1	23243036	23243327	E071	-23612
chr1	23295817	23296118	E071	28878
chr1	23296189	23296315	E071	29250
chr1	23242489	23242594	E072	-24345
chr1	23242753	23242840	E072	-24099
chr1	23243036	23243327	E072	-23612
chr1	23242489	23242594	E073	-24345
chr1	23243036	23243327	E073	-23612
chr1	23229694	23229854	E074	-37085
chr1	23242489	23242594	E074	-24345
chr1	23242753	23242840	E074	-24099
chr1	23243036	23243327	E074	-23612
chr1	23241231	23241314	E081	-25625
chr1	23241834	23241952	E081	-24987
chr1	23243036	23243327	E081	-23612
chr1	23295817	23296118	E081	28878
chr1	23296189	23296315	E081	29250
chr1	23295817	23296118	E082	28878
chr1	23296189	23296315	E082	29250

rs1832047