SNP Detail Info-rs55996493

Organism: Homo sapiens

Alleles: G>A / G>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0047 (1411/29950,GnomAD)
T=0044 (1282/29118,TOPMED)
T=0034 (170/5008,1000G)
T=0060 (231/3854,ALSPAC)
T=0061 (226/3708,TWINSUK)

Position: chr13:87264075 (GRCh38.p7) (13q31.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.984	A=0.000
1000Genomes	American	Sub	694	G=0.960	A=0.00,
1000Genomes	East Asian	Sub	1008	G=0.980	A=0.007
1000Genomes	Europe	Sub	1006	G=0.938	A=0.000
1000Genomes	Global	Study-wide	5008	G=0.965	A=0.001
1000Genomes	South Asian	Sub	978	G=0.950	A=0.00,
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.940	T=0.060
The Genome Aggregation Database	African	Sub	8728	G=0.979	T=0.021
The Genome Aggregation Database	American	Sub	838	G=0.970	T=0.03,
The Genome Aggregation Database	East Asian	Sub	1620	G=0.973	T=0.020
The Genome Aggregation Database	Europe	Sub	18462	G=0.938	T=0.061
The Genome Aggregation Database	Global	Study-wide	29950	G=0.952	T=0.047
The Genome Aggregation Database	Other	Sub	302	G=0.880	T=0.12,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.956	T=0.044
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.939	T=0.061

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs55996493	0.000248	alcohol consumption	23743675

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

rs55996493