SNP Detail Info-rs6911837

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

EYS : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0349 (10454/29880,GnomAD)
G==0399 (11625/29118,TOPMED)
G==0370 (1855/5008,1000G)
G==0298 (1149/3854,ALSPAC)
G==0304 (1127/3708,TWINSUK)

Position: chr6:64787060 (GRCh38.p7) (6q12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer 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	G=0.568	A=0.432
1000Genomes	American	Sub	694	G=0.250	A=0.750
1000Genomes	East Asian	Sub	1008	G=0.233	A=0.767
1000Genomes	Europe	Sub	1006	G=0.293	A=0.707
1000Genomes	Global	Study-wide	5008	G=0.370	A=0.630
1000Genomes	South Asian	Sub	978	G=0.410	A=0.590
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.298	A=0.702
The Genome Aggregation Database	African	Sub	8698	G=0.506	A=0.494
The Genome Aggregation Database	American	Sub	834	G=0.250	A=0.750
The Genome Aggregation Database	East Asian	Sub	1596	G=0.266	A=0.734
The Genome Aggregation Database	Europe	Sub	18450	G=0.285	A=0.714
The Genome Aggregation Database	Global	Study-wide	29880	G=0.349	A=0.650
The Genome Aggregation Database	Other	Sub	302	G=0.510	A=0.490
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.399	A=0.600
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.304	A=0.696

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs6911837	0.000199	alcohol dependence	20201924

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

rs6911837