SNP Detail Info-rs4729043

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

GATAD1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0055 (1659/29964,GnomAD)
A=0068 (1986/29118,TOPMED)
A=0104 (522/5008,1000G)
A=0017 (64/3854,ALSPAC)
A=0019 (70/3708,TWINSUK)

Position: chr7:92448402 (GRCh38.p7) (7q21.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 15 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	G=0.902	A=0.098
1000Genomes	American	Sub	694	G=0.900	A=0.100
1000Genomes	East Asian	Sub	1008	G=0.729	A=0.271
1000Genomes	Europe	Sub	1006	G=0.981	A=0.019
1000Genomes	Global	Study-wide	5008	G=0.896	A=0.104
1000Genomes	South Asian	Sub	978	G=0.970	A=0.030
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.983	A=0.017
The Genome Aggregation Database	African	Sub	8714	G=0.910	A=0.090
The Genome Aggregation Database	American	Sub	838	G=0.870	A=0.130
The Genome Aggregation Database	East Asian	Sub	1616	G=0.705	A=0.295
The Genome Aggregation Database	Europe	Sub	18494	G=0.985	A=0.014
The Genome Aggregation Database	Global	Study-wide	29964	G=0.944	A=0.055
The Genome Aggregation Database	Other	Sub	302	G=0.920	A=0.080
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.931	A=0.068
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.981	A=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
rs4729043	0.00051	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr7:92077716	RBM48	ENSG00000127993.10	G>A	2.2782e-4	-80371	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	-44687
chr7	92078440	92078538	E067	724
chr7	92078550	92078697	E067	834
chr7	92081595	92081651	E067	3879
chr7	92052852	92052924	E068	-24792
chr7	92053080	92053378	E068	-24338
chr7	92028878	92028932	E072	-48784
chr7	92031115	92031204	E072	-46512
chr7	92053080	92053378	E072	-24338
chr7	92053387	92053473	E072	-24243
chr7	92079418	92079493	E072	1702
chr7	92078440	92078538	E074	724
chr7	92078550	92078697	E074	834
chr7	92078440	92078538	E082	724
chr7	92078550	92078697	E082	834

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr7	92053526	92054372	E067	-23344
chr7	92076366	92078352	E067	0
chr7	92053526	92054372	E068	-23344
chr7	92076366	92078352	E068	0
chr7	92053526	92054372	E069	-23344
chr7	92076366	92078352	E069	0
chr7	92053526	92054372	E070	-23344
chr7	92076366	92078352	E070	0
chr7	92053526	92054372	E071	-23344
chr7	92076366	92078352	E071	0
chr7	92053526	92054372	E072	-23344
chr7	92076366	92078352	E072	0
chr7	92053526	92054372	E073	-23344
chr7	92076366	92078352	E073	0
chr7	92053526	92054372	E074	-23344
chr7	92076366	92078352	E074	0
chr7	92053526	92054372	E081	-23344
chr7	92076366	92078352	E081	0
chr7	92053526	92054372	E082	-23344
chr7	92076366	92078352	E082	0

rs4729043