SNP Detail Info-rs11948250

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0032 (975/29992,GnomAD)
A=0053 (1563/29118,TOPMED)
A=0038 (192/5008,1000G)
A=0012 (48/3854,ALSPAC)
A=0009 (32/3708,TWINSUK)

Position: chr5:5704121 (GRCh38.p7) (5p15.32)

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 5	NC_000005.10:g.5704121G>A
GRCh37.p13 chr 5	NC_000005.9:g.5704234G>A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.875	A=0.125
1000Genomes	American	Sub	694	G=0.980	A=0.020
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=0.985	A=0.015
1000Genomes	Global	Study-wide	5008	G=0.962	A=0.038
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.988	A=0.012
The Genome Aggregation Database	African	Sub	8726	G=0.903	A=0.097
The Genome Aggregation Database	American	Sub	838	G=0.990	A=0.010
The Genome Aggregation Database	East Asian	Sub	1620	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18506	G=0.994	A=0.005
The Genome Aggregation Database	Global	Study-wide	29992	G=0.967	A=0.032
The Genome Aggregation Database	Other	Sub	302	G=0.950	A=0.050
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.946	A=0.053
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.991	A=0.009

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

SNP ID	p-value	Traits	Study
rs11948250	5.39E-06	alcohol consumption	23953852

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	5710632	5710892	E067	6398
chr5	5710988	5711110	E067	6754
chr5	5711191	5711374	E067	6957
chr5	5666610	5666862	E070	-37372
chr5	5710632	5710892	E070	6398
chr5	5710988	5711110	E070	6754
chr5	5711191	5711374	E070	6957

rs11948250