SNP Detail Info-rs7927293

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LUZP2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0344 (10303/29894,GnomAD)
G=0351 (10244/29118,TOPMED)
G=0398 (1994/5008,1000G)
G=0327 (1260/3854,ALSPAC)
G=0331 (1228/3708,TWINSUK)

Position: chr11:24506412 (GRCh38.p7) (11p14.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 30 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
LUZP2 transcript variant 1	NM_001009909.3:c.	N/A	Intron Variant
LUZP2 transcript variant 2	NM_001252008.1:c.	N/A	Intron Variant
LUZP2 transcript variant 3	NM_001252010.1:c.	N/A	Intron Variant
LUZP2 transcript variant X4	XM_011520056.2:c.	N/A	Intron Variant
LUZP2 transcript variant X1	XM_017017648.1:c.	N/A	Intron Variant
LUZP2 transcript variant X2	XM_017017649.1:c.	N/A	Intron Variant
LUZP2 transcript variant X5	XM_017017650.1:c.	N/A	Intron Variant
LUZP2 transcript variant X6	XM_017017651.1:c.	N/A	Intron Variant
LUZP2 transcript variant X3	XR_930864.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.582	G=0.418
1000Genomes	American	Sub	694	A=0.710	G=0.290
1000Genomes	East Asian	Sub	1008	A=0.531	G=0.469
1000Genomes	Europe	Sub	1006	A=0.689	G=0.311
1000Genomes	Global	Study-wide	5008	A=0.602	G=0.398
1000Genomes	South Asian	Sub	978	A=0.540	G=0.460
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.673	G=0.327
The Genome Aggregation Database	African	Sub	8706	A=0.579	G=0.421
The Genome Aggregation Database	American	Sub	834	A=0.690	G=0.310
The Genome Aggregation Database	East Asian	Sub	1606	A=0.540	G=0.460
The Genome Aggregation Database	Europe	Sub	18448	A=0.699	G=0.301
The Genome Aggregation Database	Global	Study-wide	29894	A=0.655	G=0.344
The Genome Aggregation Database	Other	Sub	300	A=0.710	G=0.290
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.648	G=0.351
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.669	G=0.331

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs7927293	0.000629	alcohol consumption (maxi-drinks)	24277619

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 )
chr11	24483069	24483149	E074	-44809
chr11	24535235	24535761	E081	7277
chr11	24535843	24536029	E081	7885
chr11	24535016	24535148	E082	7058
chr11	24535235	24535761	E082	7277
chr11	24535843	24536029	E082	7885

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	24517501	24517629	E067	-10329
chr11	24517860	24519338	E067	-8620
chr11	24519349	24519559	E067	-8399
chr11	24519579	24519713	E067	-8245
chr11	24517860	24519338	E068	-8620
chr11	24517860	24519338	E069	-8620
chr11	24519349	24519559	E069	-8399
chr11	24517860	24519338	E070	-8620
chr11	24519349	24519559	E070	-8399
chr11	24519579	24519713	E070	-8245
chr11	24517860	24519338	E071	-8620
chr11	24519349	24519559	E071	-8399
chr11	24519579	24519713	E071	-8245
chr11	24517501	24517629	E072	-10329
chr11	24517860	24519338	E072	-8620
chr11	24519349	24519559	E072	-8399
chr11	24519579	24519713	E072	-8245
chr11	24517501	24517629	E073	-10329
chr11	24517860	24519338	E073	-8620
chr11	24517860	24519338	E074	-8620
chr11	24519349	24519559	E074	-8399
chr11	24519579	24519713	E074	-8245
chr11	24520050	24520145	E074	-7813
chr11	24517860	24519338	E081	-8620
chr11	24519349	24519559	E081	-8399
chr11	24519579	24519713	E081	-8245
chr11	24517501	24517629	E082	-10329
chr11	24517860	24519338	E082	-8620
chr11	24519349	24519559	E082	-8399
chr11	24519579	24519713	E082	-8245

rs7927293