SNP Detail Info-rs11131599

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

EPHA5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0187 (5604/29836,GnomAD)
A=0139 (4074/29118,TOPMED)
A=0161 (806/5008,1000G)
A=0181 (698/3854,ALSPAC)
A=0171 (633/3708,TWINSUK)

Position: chr4:65517712 (GRCh38.p7) (4q13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.65517712G>A
GRCh37.p13 chr 4	NC_000004.11:g.66383430G>A

Molecule type	Change	Amino acid[Codon]	SO Term
EPHA5 transcript variant 3	NM_001281765.2:c.	N/A	Intron Variant
EPHA5 transcript variant 4	NM_001281766.2:c.	N/A	Intron Variant
EPHA5 transcript variant 5	NM_001281767.2:c.	N/A	Intron Variant
EPHA5 transcript variant 6	NM_001318761.1:c.	N/A	Intron Variant
EPHA5 transcript variant 1	NM_004439.7:c.	N/A	Intron Variant
EPHA5 transcript variant 2	NM_182472.4:c.	N/A	Intron Variant
EPHA5 transcript variant X3	XM_005265653.3:c.	N/A	Intron Variant
EPHA5 transcript variant X1	XM_011531735.2:c.	N/A	Intron Variant
EPHA5 transcript variant X2	XM_017007878.1:c.	N/A	Intron Variant
EPHA5 transcript variant X4	XM_017007879.1:c.	N/A	Intron Variant
EPHA5 transcript variant X5	XM_017007880.1:c.	N/A	Intron Variant
EPHA5 transcript variant X6	XM_017007881.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.859	A=0.141
1000Genomes	American	Sub	694	G=0.880	A=0.120
1000Genomes	East Asian	Sub	1008	G=0.787	A=0.213
1000Genomes	Europe	Sub	1006	G=0.826	A=0.174
1000Genomes	Global	Study-wide	5008	G=0.839	A=0.161
1000Genomes	South Asian	Sub	978	G=0.850	A=0.150
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.819	A=0.181
The Genome Aggregation Database	African	Sub	8708	G=0.843	A=0.157
The Genome Aggregation Database	American	Sub	834	G=0.880	A=0.120
The Genome Aggregation Database	East Asian	Sub	1604	G=0.793	A=0.207
The Genome Aggregation Database	Europe	Sub	18388	G=0.795	A=0.204
The Genome Aggregation Database	Global	Study-wide	29836	G=0.812	A=0.187
The Genome Aggregation Database	Other	Sub	302	G=0.880	A=0.120
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.860	A=0.139
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.829	A=0.171

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
rs11131599	0.00096	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr4	66427182	66427250	E081	43752
chr4	66428260	66428428	E081	44830
chr4	66380815	66380869	E082	-2561
chr4	66387477	66387557	E082	4047
chr4	66387583	66387656	E082	4153

rs11131599