rs62191099

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0197 (5879/29846,GnomAD)
A=0196 (5729/29118,TOPMED)
A=0123 (614/5008,1000G)
A=0293 (1131/3854,ALSPAC)
A=0284 (1053/3708,TWINSUK)

Position: chr2:238936057 (GRCh38.p7) (2q37.3)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 72 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.238936057G>A
GRCh37.p13 chr 2	NC_000002.11:g.239857753G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.940	A=0.060
1000Genomes	American	Sub	694	G=0.860	A=0.140
1000Genomes	East Asian	Sub	1008	G=0.949	A=0.051
1000Genomes	Europe	Sub	1006	G=0.738	A=0.262
1000Genomes	Global	Study-wide	5008	G=0.877	A=0.123
1000Genomes	South Asian	Sub	978	G=0.870	A=0.130
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.707	A=0.293
The Genome Aggregation Database	African	Sub	8704	G=0.915	A=0.085
The Genome Aggregation Database	American	Sub	838	G=0.870	A=0.130
The Genome Aggregation Database	East Asian	Sub	1618	G=0.922	A=0.078
The Genome Aggregation Database	Europe	Sub	18386	G=0.737	A=0.262
The Genome Aggregation Database	Global	Study-wide	29846	G=0.803	A=0.197
The Genome Aggregation Database	Other	Sub	300	G=0.740	A=0.260
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.803	A=0.196
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.716	A=0.284

PMID	Title	Author	Journal
26365420	The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.	Mbarek H	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs62191099	5E-06	alcohol dependence	26365420

eQTL of rs62191099 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 rs62191099 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 )
chr2	239846702	239846904	E067	-10849
chr2	239850221	239850315	E067	-7438
chr2	239850614	239850658	E067	-7095
chr2	239850801	239850845	E067	-6908
chr2	239850883	239850927	E067	-6826
chr2	239850973	239851700	E067	-6053
chr2	239892148	239892480	E067	34395
chr2	239893161	239893240	E067	35408
chr2	239846702	239846904	E068	-10849
chr2	239850221	239850315	E068	-7438
chr2	239850614	239850658	E068	-7095
chr2	239850801	239850845	E068	-6908
chr2	239850883	239850927	E068	-6826
chr2	239850973	239851700	E068	-6053
chr2	239851931	239852025	E068	-5728
chr2	239846702	239846904	E069	-10849
chr2	239850221	239850315	E069	-7438
chr2	239850614	239850658	E069	-7095
chr2	239850801	239850845	E069	-6908
chr2	239850883	239850927	E069	-6826
chr2	239850973	239851700	E069	-6053
chr2	239851931	239852025	E069	-5728
chr2	239873977	239874593	E069	16224
chr2	239895799	239896026	E069	38046
chr2	239896185	239896712	E069	38432
chr2	239846387	239846431	E070	-11322
chr2	239846702	239846904	E070	-10849
chr2	239847935	239848009	E070	-9744
chr2	239848057	239848153	E070	-9600
chr2	239850973	239851700	E070	-6053
chr2	239846702	239846904	E071	-10849
chr2	239850221	239850315	E071	-7438
chr2	239850614	239850658	E071	-7095
chr2	239850801	239850845	E071	-6908
chr2	239850883	239850927	E071	-6826
chr2	239850973	239851700	E071	-6053
chr2	239873977	239874593	E071	16224
chr2	239893161	239893240	E071	35408
chr2	239895799	239896026	E071	38046
chr2	239896185	239896712	E071	38432
chr2	239846702	239846904	E072	-10849
chr2	239847935	239848009	E072	-9744
chr2	239850221	239850315	E072	-7438
chr2	239850614	239850658	E072	-7095
chr2	239850801	239850845	E072	-6908
chr2	239850883	239850927	E072	-6826
chr2	239850973	239851700	E072	-6053
chr2	239851931	239852025	E072	-5728
chr2	239873977	239874593	E072	16224
chr2	239892148	239892480	E072	34395
chr2	239893161	239893240	E072	35408
chr2	239896185	239896712	E072	38432
chr2	239850801	239850845	E073	-6908
chr2	239850883	239850927	E073	-6826
chr2	239850973	239851700	E073	-6053
chr2	239895142	239895347	E073	37389
chr2	239896185	239896712	E073	38432
chr2	239846702	239846904	E074	-10849
chr2	239850221	239850315	E074	-7438
chr2	239850614	239850658	E074	-7095
chr2	239850801	239850845	E074	-6908
chr2	239850883	239850927	E074	-6826
chr2	239850973	239851700	E074	-6053
chr2	239873977	239874593	E074	16224
chr2	239895799	239896026	E074	38046
chr2	239896185	239896712	E074	38432
chr2	239850801	239850845	E081	-6908
chr2	239850883	239850927	E081	-6826
chr2	239846702	239846904	E082	-10849
chr2	239847935	239848009	E082	-9744
chr2	239848057	239848153	E082	-9600
chr2	239850973	239851700	E082	-6053