SNP Detail Info-rs1440588

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

FSTL5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0253 (7567/29894,GnomAD)
G=0241 (7037/29118,TOPMED)
G=0228 (1140/5008,1000G)
G=0281 (1083/3854,ALSPAC)
G=0261 (968/3708,TWINSUK)

Position: chr4:161842862 (GRCh38.p7) (4q32.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 7 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.161842862A>G
GRCh37.p13 chr 4	NC_000004.11:g.162764014A>G

Molecule type	Change	Amino acid[Codon]	SO Term
FSTL5 transcript variant 2	NM_001128427.2:c.	N/A	Intron Variant
FSTL5 transcript variant 3	NM_001128428.2:c.	N/A	Intron Variant
FSTL5 transcript variant 1	NM_020116.4:c.	N/A	Intron Variant
FSTL5 transcript variant X1	XM_011532126.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.815	G=0.185
1000Genomes	American	Sub	694	A=0.710	G=0.290
1000Genomes	East Asian	Sub	1008	A=0.828	G=0.172
1000Genomes	Europe	Sub	1006	A=0.713	G=0.287
1000Genomes	Global	Study-wide	5008	A=0.772	G=0.228
1000Genomes	South Asian	Sub	978	A=0.760	G=0.240
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.719	G=0.281
The Genome Aggregation Database	African	Sub	8710	A=0.815	G=0.185
The Genome Aggregation Database	American	Sub	834	A=0.730	G=0.270
The Genome Aggregation Database	East Asian	Sub	1618	A=0.813	G=0.187
The Genome Aggregation Database	Europe	Sub	18430	A=0.708	G=0.291
The Genome Aggregation Database	Global	Study-wide	29894	A=0.746	G=0.253
The Genome Aggregation Database	Other	Sub	302	A=0.820	G=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.758	G=0.241
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.739	G=0.261

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
rs1440588	0.00048	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	162802887	162802937	E070	38873
chr4	162804397	162804447	E070	40383
chr4	162804557	162804623	E070	40543
chr4	162802887	162802937	E074	38873
chr4	162720910	162721104	E081	-42910
chr4	162762964	162763255	E081	-759
chr4	162750776	162751029	E082	-12985

rs1440588