rs7248066

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ARHGEF18 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0198 (5939/29890,GnomAD)
A=0192 (5617/29118,TOPMED)
A=0182 (910/5008,1000G)
A=0242 (931/3854,ALSPAC)
A=0231 (856/3708,TWINSUK)

Position: chr19:7445470 (GRCh38.p7) (19p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 149 Enhancers around

Promoter: 16 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.7445470G>A
GRCh37.p13 chr 19	NC_000019.9:g.7510356G>A

Gene: ARHGEF18, Rho/Rac guanine nucleotide exchange factor 18(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ARHGEF18 transcript variant 2	NM_001130955.1:c.	N/A	Intron Variant
ARHGEF18 transcript variant 1	NM_015318.3:c.	N/A	Intron Variant
ARHGEF18 transcript variant X2	XM_005272464.4:c.	N/A	Intron Variant
ARHGEF18 transcript variant X5	XM_006722705.3:c.	N/A	Intron Variant
ARHGEF18 transcript variant X6	XM_006722706.3:c.	N/A	Intron Variant
ARHGEF18 transcript variant X10	XM_006722708.2:c.	N/A	Intron Variant
ARHGEF18 transcript variant X1	XM_011527835.2:c.	N/A	Intron Variant
ARHGEF18 transcript variant X3	XM_011527836.2:c.	N/A	Intron Variant
ARHGEF18 transcript variant X4	XM_011527837.2:c.	N/A	Intron Variant
ARHGEF18 transcript variant X7	XM_011527838.2:c.	N/A	Intron Variant
ARHGEF18 transcript variant X8	XM_011527839.2:c.	N/A	Intron Variant
ARHGEF18 transcript variant X9	XM_011527840.1:c.	N/A	Intron Variant
ARHGEF18 transcript variant X11	XM_011527841.2:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.845	A=0.155
1000Genomes	American	Sub	694	G=0.780	A=0.220
1000Genomes	East Asian	Sub	1008	G=0.868	A=0.132
1000Genomes	Europe	Sub	1006	G=0.748	A=0.252
1000Genomes	Global	Study-wide	5008	G=0.818	A=0.182
1000Genomes	South Asian	Sub	978	G=0.830	A=0.170
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.758	A=0.242
The Genome Aggregation Database	African	Sub	8706	G=0.835	A=0.165
The Genome Aggregation Database	American	Sub	836	G=0.820	A=0.180
The Genome Aggregation Database	East Asian	Sub	1614	G=0.872	A=0.128
The Genome Aggregation Database	Europe	Sub	18432	G=0.779	A=0.220
The Genome Aggregation Database	Global	Study-wide	29890	G=0.801	A=0.198
The Genome Aggregation Database	Other	Sub	302	G=0.710	A=0.290
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.807	A=0.192
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.769	A=0.231

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

P-Value

SNP ID	p-value	Traits	Study
rs7248066	0.00092	alcohol dependence	20201924

eQTL of rs7248066 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs7248066 in Fetal Brain

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 )
chr19	7461609	7461684	E067	-48672
chr19	7461792	7461848	E067	-48508
chr19	7463620	7464234	E067	-46122
chr19	7480106	7480215	E067	-30141
chr19	7480424	7480898	E067	-29458
chr19	7480905	7481049	E067	-29307
chr19	7499539	7499589	E067	-10767
chr19	7501559	7501709	E067	-8647
chr19	7505077	7505201	E067	-5155
chr19	7505495	7505991	E067	-4365
chr19	7506383	7506446	E067	-3910
chr19	7506462	7506551	E067	-3805
chr19	7506618	7506668	E067	-3688
chr19	7507439	7507578	E067	-2778
chr19	7507705	7507755	E067	-2601
chr19	7543715	7544047	E067	33359
chr19	7548547	7548994	E067	38191
chr19	7557790	7558014	E067	47434
chr19	7558224	7558268	E067	47868
chr19	7558539	7558583	E067	48183
chr19	7559101	7559845	E067	48745
chr19	7560043	7560102	E067	49687
chr19	7560141	7560186	E067	49785
chr19	7461609	7461684	E068	-48672
chr19	7461792	7461848	E068	-48508
chr19	7463620	7464234	E068	-46122
chr19	7478641	7478773	E068	-31583
chr19	7479916	7479991	E068	-30365
chr19	7480063	7480103	E068	-30253
chr19	7480106	7480215	E068	-30141
chr19	7480424	7480898	E068	-29458
chr19	7480905	7481049	E068	-29307
chr19	7506383	7506446	E068	-3910
chr19	7506462	7506551	E068	-3805
chr19	7506618	7506668	E068	-3688
chr19	7543296	7543676	E068	32940
chr19	7543715	7544047	E068	33359
chr19	7548547	7548994	E068	38191
chr19	7557790	7558014	E068	47434
chr19	7558224	7558268	E068	47868
chr19	7558539	7558583	E068	48183
chr19	7560043	7560102	E068	49687
chr19	7560141	7560186	E068	49785
chr19	7461609	7461684	E069	-48672
chr19	7461792	7461848	E069	-48508
chr19	7463620	7464234	E069	-46122
chr19	7480063	7480103	E069	-30253
chr19	7480106	7480215	E069	-30141
chr19	7480424	7480898	E069	-29458
chr19	7480905	7481049	E069	-29307
chr19	7499539	7499589	E069	-10767
chr19	7500181	7500231	E069	-10125
chr19	7500387	7500467	E069	-9889
chr19	7501559	7501709	E069	-8647
chr19	7501801	7501970	E069	-8386
chr19	7506383	7506446	E069	-3910
chr19	7506462	7506551	E069	-3805
chr19	7507439	7507578	E069	-2778
chr19	7547699	7548536	E069	37343
chr19	7548547	7548994	E069	38191
chr19	7560043	7560102	E069	49687
chr19	7560141	7560186	E069	49785
chr19	7463297	7463351	E070	-47005
chr19	7463620	7464234	E070	-46122
chr19	7547699	7548536	E070	37343
chr19	7548547	7548994	E070	38191
chr19	7461609	7461684	E071	-48672
chr19	7461792	7461848	E071	-48508
chr19	7480063	7480103	E071	-30253
chr19	7480106	7480215	E071	-30141
chr19	7480424	7480898	E071	-29458
chr19	7480905	7481049	E071	-29307
chr19	7499539	7499589	E071	-10767
chr19	7500181	7500231	E071	-10125
chr19	7500387	7500467	E071	-9889
chr19	7501559	7501709	E071	-8647
chr19	7501801	7501970	E071	-8386
chr19	7506383	7506446	E071	-3910
chr19	7506462	7506551	E071	-3805
chr19	7506618	7506668	E071	-3688
chr19	7507439	7507578	E071	-2778
chr19	7507705	7507755	E071	-2601
chr19	7543296	7543676	E071	32940
chr19	7543715	7544047	E071	33359
chr19	7544102	7544152	E071	33746
chr19	7544334	7545148	E071	33978
chr19	7556833	7557767	E071	46477
chr19	7557790	7558014	E071	47434
chr19	7558224	7558268	E071	47868
chr19	7558539	7558583	E071	48183
chr19	7560043	7560102	E071	49687
chr19	7560141	7560186	E071	49785
chr19	7463620	7464234	E072	-46122
chr19	7480063	7480103	E072	-30253
chr19	7480106	7480215	E072	-30141
chr19	7480424	7480898	E072	-29458
chr19	7480905	7481049	E072	-29307
chr19	7482812	7483121	E072	-27235
chr19	7499539	7499589	E072	-10767
chr19	7500181	7500231	E072	-10125
chr19	7500387	7500467	E072	-9889
chr19	7501559	7501709	E072	-8647
chr19	7501801	7501970	E072	-8386
chr19	7502381	7502425	E072	-7931
chr19	7502558	7502608	E072	-7748
chr19	7507439	7507578	E072	-2778
chr19	7507705	7507755	E072	-2601
chr19	7543296	7543676	E072	32940
chr19	7543715	7544047	E072	33359
chr19	7557790	7558014	E072	47434
chr19	7558224	7558268	E072	47868
chr19	7558539	7558583	E072	48183
chr19	7560043	7560102	E072	49687
chr19	7560141	7560186	E072	49785
chr19	7461609	7461684	E073	-48672
chr19	7461792	7461848	E073	-48508
chr19	7463620	7464234	E073	-46122
chr19	7480106	7480215	E073	-30141
chr19	7543296	7543676	E073	32940
chr19	7543715	7544047	E073	33359
chr19	7547330	7547572	E073	36974
chr19	7547578	7547679	E073	37222
chr19	7547699	7548536	E073	37343
chr19	7548547	7548994	E073	38191
chr19	7557790	7558014	E073	47434
chr19	7558224	7558268	E073	47868
chr19	7558539	7558583	E073	48183
chr19	7559101	7559845	E073	48745
chr19	7461609	7461684	E074	-48672
chr19	7461792	7461848	E074	-48508
chr19	7463620	7464234	E074	-46122
chr19	7482812	7483121	E074	-27235
chr19	7501559	7501709	E074	-8647
chr19	7501801	7501970	E074	-8386
chr19	7502381	7502425	E074	-7931
chr19	7502558	7502608	E074	-7748
chr19	7507439	7507578	E074	-2778
chr19	7543296	7543676	E074	32940
chr19	7557790	7558014	E074	47434
chr19	7558224	7558268	E074	47868
chr19	7558539	7558583	E074	48183
chr19	7560043	7560102	E074	49687
chr19	7560141	7560186	E074	49785
chr19	7461609	7461684	E081	-48672
chr19	7461792	7461848	E081	-48508
chr19	7547699	7548536	E081	37343
chr19	7548547	7548994	E081	38191
chr19	7461609	7461684	E082	-48672
chr19	7461792	7461848	E082	-48508

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	7553068	7553422	E067	42712
chr19	7553534	7554870	E067	43178
chr19	7553068	7553422	E068	42712
chr19	7553534	7554870	E068	43178
chr19	7553068	7553422	E069	42712
chr19	7553534	7554870	E069	43178
chr19	7553068	7553422	E070	42712
chr19	7553534	7554870	E070	43178
chr19	7553068	7553422	E071	42712
chr19	7553534	7554870	E071	43178
chr19	7553068	7553422	E072	42712
chr19	7553534	7554870	E072	43178
chr19	7553534	7554870	E073	43178
chr19	7553534	7554870	E074	43178
chr19	7553068	7553422	E082	42712
chr19	7553534	7554870	E082	43178