rs10182274

Organism: Homo sapiens

Alleles: G>A / G>T

Gene : Feature

NBEAL1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0317 (9511/29946,GnomAD)
A=0258 (7538/29118,TOPMED)
A=0354 (1771/5008,1000G)
A=0262 (1011/3854,ALSPAC)
A=0272 (1010/3708,TWINSUK)

Position: chr2:203186286 (GRCh38.p7) (2q33.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer 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.203186286G>A
GRCh38.p7 chr 2	NC_000002.12:g.203186286G>T
GRCh37.p13 chr 2	NC_000002.11:g.204051009G>A
GRCh37.p13 chr 2	NC_000002.11:g.204051009G>T

Gene: NBEAL1, neurobeachin like 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NBEAL1 transcript	NM_001114132.1:c.	N/A	Intron Variant
NBEAL1 transcript variant X5	XM_005246787.3:c.	N/A	Intron Variant
NBEAL1 transcript variant X9	XM_005246788.2:c.	N/A	Intron Variant
NBEAL1 transcript variant X1	XM_006712698.3:c.	N/A	Intron Variant
NBEAL1 transcript variant X4	XM_006712699.3:c.	N/A	Intron Variant
NBEAL1 transcript variant X2	XM_011511658.2:c.	N/A	Intron Variant
NBEAL1 transcript variant X3	XM_011511659.2:c.	N/A	Intron Variant
NBEAL1 transcript variant X6	XM_011511660.2:c.	N/A	Intron Variant
NBEAL1 transcript variant X7	XM_011511662.2:c.	N/A	Intron Variant
NBEAL1 transcript variant X8	XM_011511663.2:c.	N/A	Intron Variant
NBEAL1 transcript variant X9	XM_017004728.1:c.	N/A	Intron Variant
NBEAL1 transcript variant X10	XM_017004729.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.759	A=0.241
1000Genomes	American	Sub	694	G=0.590	A=0.410
1000Genomes	East Asian	Sub	1008	G=0.417	A=0.583
1000Genomes	Europe	Sub	1006	G=0.724	A=0.276
1000Genomes	Global	Study-wide	5008	G=0.646	A=0.354
1000Genomes	South Asian	Sub	978	G=0.690	A=0.310
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.738	A=0.262
The Genome Aggregation Database	African	Sub	8704	G=0.737	T=0.000
The Genome Aggregation Database	American	Sub	836	G=0.610	T=0.00,
The Genome Aggregation Database	East Asian	Sub	1618	G=0.412	T=0.000
The Genome Aggregation Database	Europe	Sub	18486	G=0.680	T=0.000
The Genome Aggregation Database	Global	Study-wide	29946	G=0.682	T=0.000
The Genome Aggregation Database	Other	Sub	302	G=0.850	T=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.741	A=0.258
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.728	A=0.272

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
rs10182274	0.000099	alcoholism	pha002893
rs10182274	0.000099	alcohol dependence	20201924
rs10182274	0.00052	alcohol dependence(early age of onset)	20201924

eQTL of rs10182274 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 rs10182274 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.