rs9945493

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0040 (1222/29958,GnomAD)
A=0056 (1631/29118,TOPMED)
A=0037 (187/5008,1000G)
A=0035 (135/3854,ALSPAC)
A=0038 (141/3708,TWINSUK)

Position: chr18:78743253 (GRCh38.p7) (18q23)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 97 Enhancers around

Promoter: 6 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 18	NC_000018.10:g.78743253G>A
GRCh37.p13 chr 18	NC_000018.9:g.76503253G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.905	A=0.095
1000Genomes	American	Sub	694	G=0.970	A=0.030
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=0.971	A=0.029
1000Genomes	Global	Study-wide	5008	G=0.963	A=0.037
1000Genomes	South Asian	Sub	978	G=0.990	A=0.010
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.965	A=0.035
The Genome Aggregation Database	African	Sub	8714	G=0.919	A=0.081
The Genome Aggregation Database	American	Sub	838	G=0.980	A=0.020
The Genome Aggregation Database	East Asian	Sub	1618	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18486	G=0.973	A=0.027
The Genome Aggregation Database	Global	Study-wide	29958	G=0.959	A=0.040
The Genome Aggregation Database	Other	Sub	302	G=0.980	A=0.020
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.944	A=0.056
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.962	A=0.038

PMID	Title	Author	Journal
21059989	Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals.	Lee JH	Arch Neurol
21956439	Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.	Zuo L	Neuropsychopharmacology

SNP ID	p-value	Traits	Study
rs9945493	5E-06	alcohol dependence	21956439

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

Genomic View

Chromatin Interaction

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

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr18	76494051	76494224	E067	-9029
chr18	76494288	76494477	E067	-8776
chr18	76480659	76482330	E068	-20923
chr18	76482360	76482923	E068	-20330
chr18	76482969	76483043	E068	-20210
chr18	76483080	76483242	E068	-20011
chr18	76483568	76483662	E068	-19591
chr18	76483668	76483775	E068	-19478
chr18	76493819	76493981	E068	-9272
chr18	76494051	76494224	E068	-9029
chr18	76536370	76536492	E068	33117
chr18	76480659	76482330	E069	-20923
chr18	76493635	76493685	E069	-9568
chr18	76493819	76493981	E069	-9272
chr18	76494051	76494224	E069	-9029
chr18	76494288	76494477	E069	-8776
chr18	76494610	76494663	E069	-8590
chr18	76460836	76460910	E070	-42343
chr18	76462688	76462744	E070	-40509
chr18	76463080	76463191	E070	-40062
chr18	76463383	76463438	E070	-39815
chr18	76464551	76464601	E070	-38652
chr18	76464730	76464780	E070	-38473
chr18	76465155	76465217	E070	-38036
chr18	76473679	76473729	E070	-29524
chr18	76479579	76479629	E070	-23624
chr18	76480052	76480109	E070	-23144
chr18	76480435	76480485	E070	-22768
chr18	76480532	76480590	E070	-22663
chr18	76480591	76480641	E070	-22612
chr18	76480659	76482330	E070	-20923
chr18	76482360	76482923	E070	-20330
chr18	76482969	76483043	E070	-20210
chr18	76483080	76483242	E070	-20011
chr18	76483568	76483662	E070	-19591
chr18	76483668	76483775	E070	-19478
chr18	76483987	76484027	E070	-19226
chr18	76484103	76484322	E070	-18931
chr18	76489658	76489728	E070	-13525
chr18	76489766	76489858	E070	-13395
chr18	76489873	76489923	E070	-13330
chr18	76515841	76515891	E070	12588
chr18	76515972	76516027	E070	12719
chr18	76516247	76516307	E070	12994
chr18	76517964	76518052	E070	14711
chr18	76523806	76524021	E070	20553
chr18	76524368	76524409	E070	21115
chr18	76529792	76529960	E070	26539
chr18	76530117	76530180	E070	26864
chr18	76530240	76530440	E070	26987
chr18	76530610	76530995	E070	27357
chr18	76536370	76536492	E070	33117
chr18	76536695	76536799	E070	33442
chr18	76536830	76536938	E070	33577
chr18	76536988	76537038	E070	33735
chr18	76537041	76537219	E070	33788
chr18	76462361	76462401	E071	-40852
chr18	76483568	76483662	E071	-19591
chr18	76483668	76483775	E071	-19478
chr18	76493819	76493981	E071	-9272
chr18	76494051	76494224	E071	-9029
chr18	76494288	76494477	E071	-8776
chr18	76459651	76459899	E072	-43354
chr18	76461460	76461710	E072	-41543
chr18	76461771	76462353	E072	-40900
chr18	76480659	76482330	E072	-20923
chr18	76493819	76493981	E072	-9272
chr18	76494051	76494224	E072	-9029
chr18	76494288	76494477	E072	-8776
chr18	76494610	76494663	E072	-8590
chr18	76501537	76501626	E072	-1627
chr18	76501633	76501795	E072	-1458
chr18	76501859	76501899	E072	-1354
chr18	76493819	76493981	E073	-9272
chr18	76494051	76494224	E073	-9029
chr18	76494288	76494477	E073	-8776
chr18	76480659	76482330	E074	-20923
chr18	76482360	76482923	E074	-20330
chr18	76482969	76483043	E074	-20210
chr18	76483080	76483242	E074	-20011
chr18	76483568	76483662	E074	-19591
chr18	76483668	76483775	E074	-19478
chr18	76493635	76493685	E074	-9568
chr18	76493819	76493981	E074	-9272
chr18	76494051	76494224	E074	-9029
chr18	76494288	76494477	E074	-8776
chr18	76494610	76494663	E074	-8590
chr18	76462361	76462401	E081	-40852
chr18	76463383	76463438	E081	-39815
chr18	76480435	76480485	E081	-22768
chr18	76480532	76480590	E081	-22663
chr18	76480591	76480641	E081	-22612
chr18	76480659	76482330	E081	-20923
chr18	76480435	76480485	E082	-22768
chr18	76480532	76480590	E082	-22663
chr18	76480591	76480641	E082	-22612
chr18	76480659	76482330	E082	-20923

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr18	76463556	76463712	E068	-39541
chr18	76463912	76463952	E068	-39301
chr18	76463556	76463712	E069	-39541
chr18	76463912	76463952	E069	-39301
chr18	76463556	76463712	E073	-39541
chr18	76463912	76463952	E073	-39301

rs9945493

Genomic Coordinates

Population Frequency

P-Value

eQTL of rs9945493 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs9945493 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)