SNP Detail Info-rs7571219

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

FAM117B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0474 (14193/29884,GnomAD)
G==0410 (11948/29118,TOPMED)
G==0500 (2502/5008,1000G)
G==0439 (1692/3854,ALSPAC)
G==0456 (1692/3708,TWINSUK)

Position: chr2:202718531 (GRCh38.p7) (2q33.2)

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 2	NC_000002.12:g.202718531G>A
GRCh37.p13 chr 2	NC_000002.11:g.203583254G>A

Molecule type	Change	Amino acid[Codon]	SO Term
FAM117B transcript	NM_173511.3:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.323	A=0.677
1000Genomes	American	Sub	694	G=0.570	A=0.430
1000Genomes	East Asian	Sub	1008	G=0.748	A=0.252
1000Genomes	Europe	Sub	1006	G=0.464	A=0.536
1000Genomes	Global	Study-wide	5008	G=0.500	A=0.500
1000Genomes	South Asian	Sub	978	G=0.470	A=0.530
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.439	A=0.561
The Genome Aggregation Database	African	Sub	8702	G=0.368	A=0.632
The Genome Aggregation Database	American	Sub	834	G=0.580	A=0.420
The Genome Aggregation Database	East Asian	Sub	1608	G=0.784	A=0.216
The Genome Aggregation Database	Europe	Sub	18440	G=0.494	A=0.505
The Genome Aggregation Database	Global	Study-wide	29884	G=0.474	A=0.525
The Genome Aggregation Database	Other	Sub	300	G=0.390	A=0.610
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.410	A=0.589
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.456	A=0.544

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
rs7571219	0.00087	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr2	203536042	203536113	E068	-47141
chr2	203536154	203536324	E068	-46930
chr2	203623408	203623627	E071	40154
chr2	203621964	203622400	E073	38710
chr2	203536042	203536113	E081	-47141
chr2	203536154	203536324	E081	-46930
chr2	203536589	203536685	E081	-46569

rs7571219