SNP Detail Info-rs2822557

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ABCC13 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0110 (3287/29630,GnomAD)
A=0097 (2842/29118,TOPMED)
A=0104 (522/5008,1000G)
A=0148 (571/3854,ALSPAC)
A=0158 (587/3708,TWINSUK)

Position: chr21:14298703 (GRCh38.p7) (21q11.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 11 Enhancers around

Promoter: 7 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 21	NC_000021.9:g.14298703G>A
GRCh37.p13 chr 21	NC_000021.8:g.15671024G>A

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC13 transcript variant A	NR_003087.1:n.	N/A	Intron Variant
ABCC13 transcript variant D	NR_003088.1:n.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.994	A=0.006
1000Genomes	American	Sub	694	G=0.890	A=0.110
1000Genomes	East Asian	Sub	1008	G=0.863	A=0.137
1000Genomes	Europe	Sub	1006	G=0.838	A=0.162
1000Genomes	Global	Study-wide	5008	G=0.896	A=0.104
1000Genomes	South Asian	Sub	978	G=0.860	A=0.140
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.852	A=0.148
The Genome Aggregation Database	African	Sub	8688	G=0.971	A=0.029
The Genome Aggregation Database	American	Sub	792	G=0.900	A=0.100
The Genome Aggregation Database	East Asian	Sub	1614	G=0.846	A=0.154
The Genome Aggregation Database	Europe	Sub	18234	G=0.854	A=0.145
The Genome Aggregation Database	Global	Study-wide	29630	G=0.889	A=0.110
The Genome Aggregation Database	Other	Sub	302	G=0.850	A=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.902	A=0.097
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.842	A=0.158

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
rs2822557	0.00015	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	15623707	15623926	E069	-47098
chr21	15623983	15624088	E069	-46936
chr21	15624121	15624249	E069	-46775
chr21	15625790	15625851	E069	-45173
chr21	15625884	15625988	E069	-45036
chr21	15626020	15626692	E069	-44332
chr21	15623983	15624088	E071	-46936
chr21	15624121	15624249	E071	-46775
chr21	15624322	15624412	E071	-46612
chr21	15626020	15626692	E074	-44332
chr21	15626020	15626692	E081	-44332

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr21	15645939	15646819	E067	-24205
chr21	15645939	15646819	E068	-24205
chr21	15645939	15646819	E069	-24205
chr21	15645939	15646819	E071	-24205
chr21	15645939	15646819	E072	-24205
chr21	15645939	15646819	E073	-24205
chr21	15645939	15646819	E074	-24205

rs2822557