SNP Detail Info-rs2548145

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0451 (13489/29876,GnomAD)
G==0422 (12307/29118,TOPMED)
G==0369 (1849/5008,1000G)
A=0480 (1848/3854,ALSPAC)
A=0470 (1743/3708,TWINSUK)

Position: chr5:40134675 (GRCh38.p7) (5p13.1)

Phenotype: AD

Dataset:

GWASdb2 | GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.40134675G>A
GRCh37.p13 chr 5	NC_000005.9:g.40134777G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.297	A=0.703
1000Genomes	American	Sub	694	G=0.320	A=0.680
1000Genomes	East Asian	Sub	1008	G=0.188	A=0.812
1000Genomes	Europe	Sub	1006	G=0.546	A=0.454
1000Genomes	Global	Study-wide	5008	G=0.369	A=0.631
1000Genomes	South Asian	Sub	978	G=0.500	A=0.500
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.520	A=0.480
The Genome Aggregation Database	African	Sub	8696	G=0.319	A=0.681
The Genome Aggregation Database	American	Sub	836	G=0.320	A=0.680
The Genome Aggregation Database	East Asian	Sub	1612	G=0.202	A=0.798
The Genome Aggregation Database	Europe	Sub	18430	G=0.540	A=0.459
The Genome Aggregation Database	Global	Study-wide	29876	G=0.451	A=0.548
The Genome Aggregation Database	Other	Sub	302	G=0.540	A=0.460
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.422	A=0.577
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.530	A=0.470

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
rs2548145	0.000002	alcoholism (alcohol use disorder factor score)	21529783
rs2548145	2.00E-06	alcohol dependence	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr5	40150989	40151161	E071	16212
chr5	40113926	40114324	E081	-20453
chr5	40114387	40114576	E081	-20201

rs2548145