SNP Detail Info-rs523815

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

QRFPR : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0070 (2104/29990,GnomAD)
A=0086 (2526/29118,TOPMED)
A=0055 (276/5008,1000G)
A=0063 (241/3854,ALSPAC)
A=0058 (214/3708,TWINSUK)

Position: chr4:121379140 (GRCh38.p7) (4q27)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 6 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.121379140G>A
GRCh37.p13 chr 4	NC_000004.11:g.122300295G>A

Molecule type	Change	Amino acid[Codon]	SO Term
QRFPR transcript	NM_198179.2:c.	N/A	Intron Variant
QRFPR transcript variant X1	XM_017008693.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.852	A=0.148
1000Genomes	American	Sub	694	G=0.970	A=0.030
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=0.945	A=0.055
1000Genomes	Global	Study-wide	5008	G=0.945	A=0.055
1000Genomes	South Asian	Sub	978	G=0.990	A=0.010
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.937	A=0.063
The Genome Aggregation Database	African	Sub	8722	G=0.864	A=0.136
The Genome Aggregation Database	American	Sub	838	G=0.960	A=0.040
The Genome Aggregation Database	East Asian	Sub	1622	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18506	G=0.952	A=0.047
The Genome Aggregation Database	Global	Study-wide	29990	G=0.929	A=0.070
The Genome Aggregation Database	Other	Sub	302	G=0.980	A=0.020
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.913	A=0.086
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.942	A=0.058

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
rs523815	0.00052	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 )
chr4	122251284	122251689	E069	-48606
chr4	122251284	122251689	E074	-48606

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr4	122301421	122302402	E068	1126
chr4	122301421	122302402	E069	1126
chr4	122301421	122302402	E071	1126
chr4	122301421	122302402	E072	1126
chr4	122301421	122302402	E073	1126
chr4	122301421	122302402	E074	1126

rs523815