SNP Detail Info-rs181048070

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105374754 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0012 (370/29980,GnomAD)
A=0011 (342/29116,TOPMED)
A=0010 (50/5008,1000G)
A=0031 (121/3854,ALSPAC)
A=0023 (86/3708,TWINSUK)

Position: chr2:59316241 (GRCh38.p7) (2p16.1)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 10 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.59316241G>A
GRCh37.p13 chr 2	NC_000002.11:g.59543376G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105374754 transcript variant X8	XR_001739487.1:n.	N/A	Intron Variant
LOC105374754 transcript variant X2	XR_940126.2:n.	N/A	Intron Variant
LOC105374754 transcript variant X1	XR_940127.2:n.	N/A	Intron Variant
LOC105374754 transcript variant X3	XR_940128.2:n.	N/A	Intron Variant
LOC105374754 transcript variant X4	XR_940129.2:n.	N/A	Intron Variant
LOC105374754 transcript variant X5	XR_940130.2:n.	N/A	Intron Variant
LOC105374754 transcript variant X7	XR_940131.2:n.	N/A	Intron Variant
LOC105374754 transcript variant X7	XR_940132.2:n.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.998	A=0.002
1000Genomes	American	Sub	694	G=0.990	A=0.010
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=0.987	A=0.013
1000Genomes	Global	Study-wide	5008	G=0.990	A=0.010
1000Genomes	South Asian	Sub	978	G=0.970	A=0.030
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.969	A=0.031
The Genome Aggregation Database	African	Sub	8732	G=0.997	A=0.003
The Genome Aggregation Database	American	Sub	838	G=0.980	A=0.020
The Genome Aggregation Database	East Asian	Sub	1610	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18498	G=0.982	A=0.017
The Genome Aggregation Database	Global	Study-wide	29980	G=0.987	A=0.012
The Genome Aggregation Database	Other	Sub	302	G=0.970	A=0.030
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.988	A=0.011
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.977	A=0.023

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

SNP ID	p-value	Traits	Study
rs181048070	1E-06	alcohol dependence	26365420

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr2	59528838	59529361	E067	-14015
chr2	59528838	59529361	E068	-14015
chr2	59529373	59529624	E068	-13752
chr2	59528838	59529361	E069	-14015
chr2	59528838	59529361	E070	-14015
chr2	59529373	59529624	E070	-13752
chr2	59528838	59529361	E074	-14015
chr2	59540266	59540512	E081	-2864
chr2	59540720	59541934	E081	-1442
chr2	59540266	59540512	E082	-2864

rs181048070