SNP Detail Info-rs11120594

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

USH2A : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0246 (7381/29936,GnomAD)
A=0208 (6059/29116,TOPMED)
A=0292 (1462/5008,1000G)
A=0345 (1330/3854,ALSPAC)
A=0342 (1268/3708,TWINSUK)

Position: chr1:215665748 (GRCh38.p7) (1q41)

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
USH2A transcript variant 2	NM_206933.2:c.	N/A	Intron Variant
USH2A transcript variant 1	NM_007123.5:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.958	A=0.042
1000Genomes	American	Sub	694	G=0.690	A=0.310
1000Genomes	East Asian	Sub	1008	G=0.605	A=0.395
1000Genomes	Europe	Sub	1006	G=0.673	A=0.327
1000Genomes	Global	Study-wide	5008	G=0.708	A=0.292
1000Genomes	South Asian	Sub	978	G=0.520	A=0.480
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.655	A=0.345
The Genome Aggregation Database	African	Sub	8720	G=0.923	A=0.077
The Genome Aggregation Database	American	Sub	836	G=0.650	A=0.350
The Genome Aggregation Database	East Asian	Sub	1618	G=0.623	A=0.377
The Genome Aggregation Database	Europe	Sub	18460	G=0.690	A=0.309
The Genome Aggregation Database	Global	Study-wide	29936	G=0.753	A=0.246
The Genome Aggregation Database	Other	Sub	302	G=0.680	A=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.791	A=0.208
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.658	A=0.342

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

SNP ID	p-value	Traits	Study
rs11120594	1E-05	alcoholism (heaviness of drinking)	21529783

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

rs11120594