rs12610760

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ARHGEF18 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0236 (6980/29502,GnomAD)
G=0242 (7070/29118,TOPMED)
G=0251 (1256/5008,1000G)
G=0237 (914/3854,ALSPAC)
G=0227 (840/3708,TWINSUK)

Position: chr19:7451357 (GRCh38.p7) (19p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 153 Enhancers around

Promoter: 25 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.7451357A>G
GRCh37.p13 chr 19	NC_000019.9:g.7516243A>G

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	A=0.712	G=0.288
1000Genomes	American	Sub	694	A=0.770	G=0.230
1000Genomes	East Asian	Sub	1008	A=0.722	G=0.278
1000Genomes	Europe	Sub	1006	A=0.751	G=0.249
1000Genomes	Global	Study-wide	5008	A=0.749	G=0.251
1000Genomes	South Asian	Sub	978	A=0.810	G=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.763	G=0.237
The Genome Aggregation Database	African	Sub	8622	A=0.719	G=0.281
The Genome Aggregation Database	American	Sub	826	A=0.810	G=0.190
The Genome Aggregation Database	East Asian	Sub	1608	A=0.748	G=0.252
The Genome Aggregation Database	Europe	Sub	18144	A=0.784	G=0.215
The Genome Aggregation Database	Global	Study-wide	29502	A=0.763	G=0.236
The Genome Aggregation Database	Other	Sub	302	A=0.710	G=0.290
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.757	G=0.242
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.773	G=0.227

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
rs12610760	0.00089	alcohol dependence	20201924

eQTL of rs12610760 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 rs12610760 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	7480106	7480215	E067	-36028
chr19	7480424	7480898	E067	-35345
chr19	7480905	7481049	E067	-35194
chr19	7499539	7499589	E067	-16654
chr19	7501559	7501709	E067	-14534
chr19	7505077	7505201	E067	-11042
chr19	7505495	7505991	E067	-10252
chr19	7506383	7506446	E067	-9797
chr19	7506462	7506551	E067	-9692
chr19	7506618	7506668	E067	-9575
chr19	7507439	7507578	E067	-8665
chr19	7507705	7507755	E067	-8488
chr19	7543715	7544047	E067	27472
chr19	7548547	7548994	E067	32304
chr19	7557790	7558014	E067	41547
chr19	7558224	7558268	E067	41981
chr19	7558539	7558583	E067	42296
chr19	7559101	7559845	E067	42858
chr19	7560043	7560102	E067	43800
chr19	7560141	7560186	E067	43898
chr19	7560297	7560359	E067	44054
chr19	7560515	7560555	E067	44272
chr19	7478641	7478773	E068	-37470
chr19	7479916	7479991	E068	-36252
chr19	7480063	7480103	E068	-36140
chr19	7480106	7480215	E068	-36028
chr19	7480424	7480898	E068	-35345
chr19	7480905	7481049	E068	-35194
chr19	7506383	7506446	E068	-9797
chr19	7506462	7506551	E068	-9692
chr19	7506618	7506668	E068	-9575
chr19	7543296	7543676	E068	27053
chr19	7543715	7544047	E068	27472
chr19	7548547	7548994	E068	32304
chr19	7557790	7558014	E068	41547
chr19	7558224	7558268	E068	41981
chr19	7558539	7558583	E068	42296
chr19	7560043	7560102	E068	43800
chr19	7560141	7560186	E068	43898
chr19	7560297	7560359	E068	44054
chr19	7561921	7562013	E068	45678
chr19	7562064	7562157	E068	45821
chr19	7562247	7562459	E068	46004
chr19	7480063	7480103	E069	-36140
chr19	7480106	7480215	E069	-36028
chr19	7480424	7480898	E069	-35345
chr19	7480905	7481049	E069	-35194
chr19	7499539	7499589	E069	-16654
chr19	7500181	7500231	E069	-16012
chr19	7500387	7500467	E069	-15776
chr19	7501559	7501709	E069	-14534
chr19	7501801	7501970	E069	-14273
chr19	7506383	7506446	E069	-9797
chr19	7506462	7506551	E069	-9692
chr19	7507439	7507578	E069	-8665
chr19	7547699	7548536	E069	31456
chr19	7548547	7548994	E069	32304
chr19	7560043	7560102	E069	43800
chr19	7560141	7560186	E069	43898
chr19	7560297	7560359	E069	44054
chr19	7561921	7562013	E069	45678
chr19	7562064	7562157	E069	45821
chr19	7562247	7562459	E069	46004
chr19	7562527	7562681	E069	46284
chr19	7547699	7548536	E070	31456
chr19	7548547	7548994	E070	32304
chr19	7480063	7480103	E071	-36140
chr19	7480106	7480215	E071	-36028
chr19	7480424	7480898	E071	-35345
chr19	7480905	7481049	E071	-35194
chr19	7499539	7499589	E071	-16654
chr19	7500181	7500231	E071	-16012
chr19	7500387	7500467	E071	-15776
chr19	7501559	7501709	E071	-14534
chr19	7501801	7501970	E071	-14273
chr19	7506383	7506446	E071	-9797
chr19	7506462	7506551	E071	-9692
chr19	7506618	7506668	E071	-9575
chr19	7507439	7507578	E071	-8665
chr19	7507705	7507755	E071	-8488
chr19	7543296	7543676	E071	27053
chr19	7543715	7544047	E071	27472
chr19	7544102	7544152	E071	27859
chr19	7544334	7545148	E071	28091
chr19	7556833	7557767	E071	40590
chr19	7557790	7558014	E071	41547
chr19	7558224	7558268	E071	41981
chr19	7558539	7558583	E071	42296
chr19	7560043	7560102	E071	43800
chr19	7560141	7560186	E071	43898
chr19	7560297	7560359	E071	44054
chr19	7560515	7560555	E071	44272
chr19	7561921	7562013	E071	45678
chr19	7562064	7562157	E071	45821
chr19	7562247	7562459	E071	46004
chr19	7562527	7562681	E071	46284
chr19	7564998	7565054	E071	48755
chr19	7480063	7480103	E072	-36140
chr19	7480106	7480215	E072	-36028
chr19	7480424	7480898	E072	-35345
chr19	7480905	7481049	E072	-35194
chr19	7482812	7483121	E072	-33122
chr19	7499539	7499589	E072	-16654
chr19	7500181	7500231	E072	-16012
chr19	7500387	7500467	E072	-15776
chr19	7501559	7501709	E072	-14534
chr19	7501801	7501970	E072	-14273
chr19	7502381	7502425	E072	-13818
chr19	7502558	7502608	E072	-13635
chr19	7507439	7507578	E072	-8665
chr19	7507705	7507755	E072	-8488
chr19	7543296	7543676	E072	27053
chr19	7543715	7544047	E072	27472
chr19	7557790	7558014	E072	41547
chr19	7558224	7558268	E072	41981
chr19	7558539	7558583	E072	42296
chr19	7560043	7560102	E072	43800
chr19	7560141	7560186	E072	43898
chr19	7560297	7560359	E072	44054
chr19	7560515	7560555	E072	44272
chr19	7561003	7561047	E072	44760
chr19	7561921	7562013	E072	45678
chr19	7562064	7562157	E072	45821
chr19	7562247	7562459	E072	46004
chr19	7562527	7562681	E072	46284
chr19	7564880	7564930	E072	48637
chr19	7480106	7480215	E073	-36028
chr19	7543296	7543676	E073	27053
chr19	7543715	7544047	E073	27472
chr19	7547330	7547572	E073	31087
chr19	7547578	7547679	E073	31335
chr19	7547699	7548536	E073	31456
chr19	7548547	7548994	E073	32304
chr19	7557790	7558014	E073	41547
chr19	7558224	7558268	E073	41981
chr19	7558539	7558583	E073	42296
chr19	7559101	7559845	E073	42858
chr19	7482812	7483121	E074	-33122
chr19	7501559	7501709	E074	-14534
chr19	7501801	7501970	E074	-14273
chr19	7502381	7502425	E074	-13818
chr19	7502558	7502608	E074	-13635
chr19	7507439	7507578	E074	-8665
chr19	7543296	7543676	E074	27053
chr19	7557790	7558014	E074	41547
chr19	7558224	7558268	E074	41981
chr19	7558539	7558583	E074	42296
chr19	7560043	7560102	E074	43800
chr19	7560141	7560186	E074	43898
chr19	7560297	7560359	E074	44054
chr19	7560515	7560555	E074	44272
chr19	7547699	7548536	E081	31456
chr19	7548547	7548994	E081	32304

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	7553068	7553422	E067	36825
chr19	7553534	7554870	E067	37291
chr19	7565513	7565702	E067	49270
chr19	7553068	7553422	E068	36825
chr19	7553534	7554870	E068	37291
chr19	7565513	7565702	E068	49270
chr19	7553068	7553422	E069	36825
chr19	7553534	7554870	E069	37291
chr19	7565513	7565702	E069	49270
chr19	7553068	7553422	E070	36825
chr19	7553534	7554870	E070	37291
chr19	7565513	7565702	E070	49270
chr19	7553068	7553422	E071	36825
chr19	7553534	7554870	E071	37291
chr19	7565513	7565702	E071	49270
chr19	7553068	7553422	E072	36825
chr19	7553534	7554870	E072	37291
chr19	7565513	7565702	E072	49270
chr19	7553534	7554870	E073	37291
chr19	7565513	7565702	E073	49270
chr19	7553534	7554870	E074	37291
chr19	7565513	7565702	E074	49270
chr19	7553068	7553422	E082	36825
chr19	7553534	7554870	E082	37291
chr19	7565513	7565702	E082	49270