rs17271148

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0028 (862/29790,GnomAD)
A=0025 (748/29118,TOPMED)
A=0041 (204/5008,1000G)

Position: chr2:189537496 (GRCh38.p7) (2q32.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 41 Enhancers around

Promoter: 19 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.189537496G>A
GRCh37.p13 chr 2	NC_000002.11:g.190402222G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.998	A=0.002
1000Genomes	American	Sub	694	G=0.990	A=0.010
1000Genomes	East Asian	Sub	1008	G=0.903	A=0.097
1000Genomes	Europe	Sub	1006	G=0.962	A=0.038
1000Genomes	Global	Study-wide	5008	G=0.959	A=0.041
1000Genomes	South Asian	Sub	978	G=0.940	A=0.060
The Genome Aggregation Database	African	Sub	8682	G=0.994	A=0.006
The Genome Aggregation Database	American	Sub	812	G=0.970	A=0.030
The Genome Aggregation Database	East Asian	Sub	1600	G=0.908	A=0.092
The Genome Aggregation Database	Europe	Sub	18394	G=0.966	A=0.033
The Genome Aggregation Database	Global	Study-wide	29790	G=0.971	A=0.028
The Genome Aggregation Database	Other	Sub	302	G=0.890	A=0.110
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.974	A=0.025

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
rs17271148	0.00034	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

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr2	190424216	190424865	E068	21994
chr2	190434197	190434257	E068	31975
chr2	190434302	190434500	E068	32080
chr2	190442785	190442846	E068	40563
chr2	190424216	190424865	E069	21994
chr2	190424878	190424976	E069	22656
chr2	190424989	190425072	E069	22767
chr2	190434197	190434257	E069	31975
chr2	190434302	190434500	E069	32080
chr2	190441863	190441940	E069	39641
chr2	190442956	190443019	E069	40734
chr2	190443123	190443230	E069	40901
chr2	190379789	190379848	E071	-22374
chr2	190380095	190380281	E071	-21941
chr2	190380411	190380459	E071	-21763
chr2	190416817	190416872	E071	14595
chr2	190416904	190417018	E071	14682
chr2	190417074	190417393	E071	14852
chr2	190417679	190418194	E071	15457
chr2	190424216	190424865	E071	21994
chr2	190424878	190424976	E071	22656
chr2	190424989	190425072	E071	22767
chr2	190441222	190441411	E071	39000
chr2	190441863	190441940	E071	39641
chr2	190441978	190442173	E071	39756
chr2	190441863	190441940	E072	39641
chr2	190441978	190442173	E072	39756
chr2	190441978	190442173	E073	39756
chr2	190446913	190447007	E073	44691
chr2	190391921	190392091	E074	-10131
chr2	190413518	190413644	E074	11296
chr2	190413863	190414559	E074	11641
chr2	190424216	190424865	E074	21994
chr2	190446913	190447007	E074	44691
chr2	190420498	190420622	E081	18276
chr2	190420768	190421016	E081	18546
chr2	190420498	190420622	E082	18276
chr2	190420768	190421016	E082	18546
chr2	190441863	190441940	E082	39641
chr2	190441978	190442173	E082	39756
chr2	190442785	190442846	E082	40563

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	190444250	190444824	E067	42028
chr2	190444872	190446825	E067	42650
chr2	190443418	190443525	E068	41196
chr2	190444250	190444824	E068	42028
chr2	190444872	190446825	E068	42650
chr2	190444872	190446825	E069	42650
chr2	190444250	190444824	E070	42028
chr2	190444872	190446825	E070	42650
chr2	190444250	190444824	E071	42028
chr2	190444872	190446825	E071	42650
chr2	190444250	190444824	E072	42028
chr2	190444872	190446825	E072	42650
chr2	190443418	190443525	E073	41196
chr2	190444250	190444824	E073	42028
chr2	190444872	190446825	E073	42650
chr2	190444250	190444824	E074	42028
chr2	190444872	190446825	E074	42650
chr2	190444250	190444824	E082	42028
chr2	190444872	190446825	E082	42650