SNP Detail Info-rs17000583

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LOC339622 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0242 (7248/29950,GnomAD)
G=0221 (6436/29118,TOPMED)
G=0300 (1503/5008,1000G)
G=0282 (1085/3854,ALSPAC)
G=0271 (1006/3708,TWINSUK)

Position: chr21:24967885 (GRCh38.p7) (21q21.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 21	NC_000021.9:g.24967885A>G
GRCh37.p13 chr 21	NC_000021.8:g.26340199A>G

Molecule type	Change	Amino acid[Codon]	SO Term
LINC01692 transcript	NR_046198.3:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.936	G=0.064
1000Genomes	American	Sub	694	A=0.530	G=0.470
1000Genomes	East Asian	Sub	1008	A=0.462	G=0.538
1000Genomes	Europe	Sub	1006	A=0.741	G=0.259
1000Genomes	Global	Study-wide	5008	A=0.700	G=0.300
1000Genomes	South Asian	Sub	978	A=0.700	G=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.718	G=0.282
The Genome Aggregation Database	African	Sub	8716	A=0.903	G=0.097
The Genome Aggregation Database	American	Sub	836	A=0.480	G=0.520
The Genome Aggregation Database	East Asian	Sub	1610	A=0.430	G=0.570
The Genome Aggregation Database	Europe	Sub	18486	A=0.730	G=0.269
The Genome Aggregation Database	Global	Study-wide	29950	A=0.758	G=0.242
The Genome Aggregation Database	Other	Sub	302	A=0.750	G=0.250
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.779	G=0.221
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.729	G=0.271

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
rs17000583	0.00024	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 )
chr21	26310001	26310093	E070	-30106
chr21	26310126	26310315	E070	-29884
chr21	26310126	26310315	E081	-29884
chr21	26320612	26320790	E081	-19409
chr21	26320959	26321042	E081	-19157

rs17000583