SNP Detail Info-rs2287179

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

GATAD1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0055 (1664/29980,GnomAD)
G=0068 (1989/29118,TOPMED)
G=0105 (524/5008,1000G)
G=0016 (63/3854,ALSPAC)
G=0019 (69/3708,TWINSUK)

Position: chr7:92451081 (GRCh38.p7) (7q21.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 14 Enhancers around

Promoter: 20 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
GATAD1 transcript variant 1	NM_021167.4:c.	N/A	Intron Variant
GATAD1 transcript variant 2	NR_052016.1:n.	N/A	Intron Variant
GATAD1 transcript variant X1	XR_001744842.1:n.	N/A	Intron Variant
GATAD1 transcript variant X2	XR_001744843.1:n.	N/A	Intron Variant
GATAD1 transcript variant X3	XR_927494.2:n.	N/A	Intron Variant
GATAD1 transcript variant X4	XR_927500.2:n.	N/A	Intron Variant
GATAD1 transcript variant X5	XR_927503.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.901	G=0.099
1000Genomes	American	Sub	694	A=0.900	G=0.100
1000Genomes	East Asian	Sub	1008	A=0.728	G=0.272
1000Genomes	Europe	Sub	1006	A=0.981	G=0.019
1000Genomes	Global	Study-wide	5008	A=0.895	G=0.105
1000Genomes	South Asian	Sub	978	A=0.970	G=0.030
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.984	G=0.016
The Genome Aggregation Database	African	Sub	8720	A=0.910	G=0.090
The Genome Aggregation Database	American	Sub	838	A=0.870	G=0.130
The Genome Aggregation Database	East Asian	Sub	1618	A=0.705	G=0.295
The Genome Aggregation Database	Europe	Sub	18502	A=0.985	G=0.014
The Genome Aggregation Database	Global	Study-wide	29980	A=0.944	G=0.055
The Genome Aggregation Database	Other	Sub	302	A=0.920	G=0.080
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.931	G=0.068
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.981	G=0.019

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
rs2287179	0.00038	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr7:92080395	RBM48	ENSG00000127993.10	A>G	2.2782e-4	-77692	Hypothalamus

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr7	92032005	92033029	E067	-47366
chr7	92078440	92078538	E067	-1857
chr7	92078550	92078697	E067	-1698
chr7	92081595	92081651	E067	1200
chr7	92052852	92052924	E068	-27471
chr7	92053080	92053378	E068	-27017
chr7	92031115	92031204	E072	-49191
chr7	92053080	92053378	E072	-27017
chr7	92053387	92053473	E072	-26922
chr7	92079418	92079493	E072	-902
chr7	92078440	92078538	E074	-1857
chr7	92078550	92078697	E074	-1698
chr7	92078440	92078538	E082	-1857
chr7	92078550	92078697	E082	-1698

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	92053526	92054372	E067	-26023
chr7	92076366	92078352	E067	-2043
chr7	92053526	92054372	E068	-26023
chr7	92076366	92078352	E068	-2043
chr7	92053526	92054372	E069	-26023
chr7	92076366	92078352	E069	-2043
chr7	92053526	92054372	E070	-26023
chr7	92076366	92078352	E070	-2043
chr7	92053526	92054372	E071	-26023
chr7	92076366	92078352	E071	-2043
chr7	92053526	92054372	E072	-26023
chr7	92076366	92078352	E072	-2043
chr7	92053526	92054372	E073	-26023
chr7	92076366	92078352	E073	-2043
chr7	92053526	92054372	E074	-26023
chr7	92076366	92078352	E074	-2043
chr7	92053526	92054372	E081	-26023
chr7	92076366	92078352	E081	-2043
chr7	92053526	92054372	E082	-26023
chr7	92076366	92078352	E082	-2043

rs2287179