SNP Detail Info-rs2217938

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

MANF : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0078 (2353/29956,GnomAD)
G=0095 (2792/29118,TOPMED)
G=0156 (783/5008,1000G)
G=0020 (77/3854,ALSPAC)
G=0015 (54/3708,TWINSUK)

Position: chr3:51388243 (GRCh38.p7) (3p21.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
MANF transcript	NM_006010.5:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.853	G=0.147
1000Genomes	American	Sub	694	A=0.750	G=0.250
1000Genomes	East Asian	Sub	1008	A=0.649	G=0.351
1000Genomes	Europe	Sub	1006	A=0.980	G=0.020
1000Genomes	Global	Study-wide	5008	A=0.844	G=0.156
1000Genomes	South Asian	Sub	978	A=0.960	G=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.980	G=0.020
The Genome Aggregation Database	African	Sub	8706	A=0.878	G=0.122
The Genome Aggregation Database	American	Sub	838	A=0.640	G=0.360
The Genome Aggregation Database	East Asian	Sub	1618	A=0.661	G=0.339
The Genome Aggregation Database	Europe	Sub	18492	A=0.976	G=0.023
The Genome Aggregation Database	Global	Study-wide	29956	A=0.921	G=0.078
The Genome Aggregation Database	Other	Sub	302	A=0.980	G=0.020
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.904	G=0.095
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.985	G=0.015

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
rs2217938	0.00013	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

rs2217938