SNP Detail Info-rs60630422

Organism: Homo sapiens

Alleles: C>A / C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0092 (2768/29934,GnomAD)
A=0090 (2645/29118,TOPMED)
A=0163 (814/5008,1000G)
A=0054 (210/3854,ALSPAC)
A=0068 (251/3708,TWINSUK)

Position: chr20:48174246 (GRCh38.p7) (20q13.13)

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	C=0.912	A=0.088
1000Genomes	American	Sub	694	C=0.850	A=0.150
1000Genomes	East Asian	Sub	1008	C=0.708	A=0.292
1000Genomes	Europe	Sub	1006	C=0.938	A=0.062
1000Genomes	Global	Study-wide	5008	C=0.837	A=0.163
1000Genomes	South Asian	Sub	978	C=0.760	A=0.240
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.946	A=0.054
The Genome Aggregation Database	African	Sub	8706	C=0.914	A=0.086
The Genome Aggregation Database	American	Sub	838	C=0.850	A=0.15,
The Genome Aggregation Database	East Asian	Sub	1612	C=0.728	A=0.272
The Genome Aggregation Database	Europe	Sub	18478	C=0.923	A=0.076
The Genome Aggregation Database	Global	Study-wide	29934	C=0.907	A=0.092
The Genome Aggregation Database	Other	Sub	300	C=0.890	A=0.11,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.909	A=0.090
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.932	A=0.068

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
rs60630422	2.77E-05	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

rs60630422