SNP Detail Info-rs756274

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

EYS : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0374 (11202/29906,GnomAD)
G=0435 (12684/29118,TOPMED)
G=0398 (1992/5008,1000G)
G=0362 (1394/3854,ALSPAC)
G=0376 (1393/3708,TWINSUK)

Position: chr6:63795320 (GRCh38.p7) (6q12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 16 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
EYS transcript variant 1	NM_001142800.1:c.	N/A	Intron Variant
EYS transcript variant 4	NM_001292009.1:c.	N/A	Intron Variant
EYS transcript variant 2	NM_001142801.1:c.	N/A	Genic Downstream Transcript Variant
EYS transcript variant 3	NM_198283.1:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.495	G=0.505
1000Genomes	American	Sub	694	A=0.540	G=0.460
1000Genomes	East Asian	Sub	1008	A=0.702	G=0.298
1000Genomes	Europe	Sub	1006	A=0.646	G=0.354
1000Genomes	Global	Study-wide	5008	A=0.602	G=0.398
1000Genomes	South Asian	Sub	978	A=0.650	G=0.350
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.638	G=0.362
The Genome Aggregation Database	African	Sub	8698	A=0.488	G=0.512
The Genome Aggregation Database	American	Sub	834	A=0.560	G=0.440
The Genome Aggregation Database	East Asian	Sub	1616	A=0.730	G=0.270
The Genome Aggregation Database	Europe	Sub	18458	A=0.683	G=0.316
The Genome Aggregation Database	Global	Study-wide	29906	A=0.625	G=0.374
The Genome Aggregation Database	Other	Sub	300	A=0.660	G=0.340
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.564	G=0.435
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.624	G=0.376

PMID	Title	Author	Journal
22096494	A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study.	Zuo L	PLoS One

SNP ID	p-value	Traits	Study
rs756274	0.0005	alcohol dependence	22096494

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr6:64505213	LGSN	ENSG00000146166.12	A>G	1.9599e-12	475331	Brain_Spinal_cord_cervical

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr6	64514172	64514807	E069	8959
chr6	64515567	64516749	E069	10354
chr6	64526651	64527912	E069	21438
chr6	64514172	64514807	E071	8959
chr6	64514865	64515035	E071	9652
chr6	64515567	64516749	E071	10354
chr6	64526651	64527912	E071	21438
chr6	64514172	64514807	E074	8959
chr6	64514865	64515035	E074	9652
chr6	64515151	64515307	E074	9938
chr6	64515375	64515486	E074	10162
chr6	64523427	64523521	E081	18214
chr6	64523591	64523774	E081	18378
chr6	64524229	64524292	E081	19016
chr6	64524448	64524625	E081	19235
chr6	64526651	64527912	E081	21438

rs756274