SNP Detail Info-rs9727862

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

CYP4X1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0168 (5050/29934,GnomAD)
G==0185 (5414/29118,TOPMED)
G==0253 (1267/5008,1000G)
G==0114 (440/3854,ALSPAC)
G==0115 (428/3708,TWINSUK)

Position: chr1:47015944 (GRCh38.p7) (1p33)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 4 Enhancers around

Promoter: 14 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
CYP4X1 transcript variant 2	NM_001320289.1:c.	N/A	Intron Variant
CYP4X1 transcript variant 3	NM_001320290.1:c.	N/A	Intron Variant
CYP4X1 transcript variant 1	NM_178033.1:c.	N/A	Genic Upstream Transcript Variant
CYP4X1 transcript variant X1	XM_017000973.1:c.	N/A	Genic Upstream Transcript Variant
CYP4X1 transcript variant X2	XR_001737105.1:n.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.297	A=0.703
1000Genomes	American	Sub	694	G=0.140	A=0.860
1000Genomes	East Asian	Sub	1008	G=0.310	A=0.690
1000Genomes	Europe	Sub	1006	G=0.113	A=0.887
1000Genomes	Global	Study-wide	5008	G=0.253	A=0.747
1000Genomes	South Asian	Sub	978	G=0.360	A=0.640
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.114	A=0.886
The Genome Aggregation Database	African	Sub	8704	G=0.268	A=0.732
The Genome Aggregation Database	American	Sub	834	G=0.160	A=0.840
The Genome Aggregation Database	East Asian	Sub	1620	G=0.343	A=0.657
The Genome Aggregation Database	Europe	Sub	18474	G=0.107	A=0.892
The Genome Aggregation Database	Global	Study-wide	29934	G=0.168	A=0.831
The Genome Aggregation Database	Other	Sub	302	G=0.140	A=0.860
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.185	A=0.814
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.115	A=0.885

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
rs9727862	0.000582	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 )
chr1	47448896	47448986	E070	-32630
chr1	47449039	47450186	E070	-31430
chr1	47490265	47490495	E071	8649
chr1	47490265	47490495	E081	8649

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	47488895	47489986	E067	7279
chr1	47490116	47490176	E067	8500
chr1	47488895	47489986	E068	7279
chr1	47490116	47490176	E068	8500
chr1	47488895	47489986	E069	7279
chr1	47490116	47490176	E069	8500
chr1	47488895	47489986	E070	7279
chr1	47488895	47489986	E071	7279
chr1	47488895	47489986	E072	7279
chr1	47490116	47490176	E072	8500
chr1	47488895	47489986	E073	7279
chr1	47490116	47490176	E073	8500
chr1	47488895	47489986	E082	7279
chr1	47490116	47490176	E082	8500

rs9727862