SNP Detail Info-rs2176918

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CYP4F8 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0472 (14130/29918,GnomAD)
G=0449 (13097/29118,TOPMED)
G=0392 (1961/5008,1000G)
A==0460 (1772/3854,ALSPAC)
A==0463 (1715/3708,TWINSUK)

Position: chr19:15620112 (GRCh38.p7) (19p13.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 15 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
CYP4F8 transcript	NM_007253.3:c.	N/A	Intron Variant
CYP4F8 transcript variant X1	XM_017026232.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.598	G=0.402
1000Genomes	American	Sub	694	A=0.660	G=0.340
1000Genomes	East Asian	Sub	1008	A=0.747	G=0.253
1000Genomes	Europe	Sub	1006	A=0.461	G=0.539
1000Genomes	Global	Study-wide	5008	A=0.608	G=0.392
1000Genomes	South Asian	Sub	978	A=0.600	G=0.400
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.460	G=0.540
The Genome Aggregation Database	African	Sub	8706	A=0.618	G=0.382
The Genome Aggregation Database	American	Sub	834	A=0.650	G=0.350
The Genome Aggregation Database	East Asian	Sub	1612	A=0.732	G=0.268
The Genome Aggregation Database	Europe	Sub	18466	A=0.461	G=0.538
The Genome Aggregation Database	Global	Study-wide	29918	A=0.527	G=0.472
The Genome Aggregation Database	Other	Sub	300	A=0.540	G=0.460
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.550	G=0.449
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.463	G=0.537

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

SNP ID	p-value	Traits	Study
rs2176918	3.5E-05	alcohol consumption	23953852

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 )
chr19	15750924	15752286	E069	20002
chr19	15752369	15752419	E069	21447
chr19	15752713	15752763	E069	21791
chr19	15725439	15725567	E070	-5355
chr19	15725682	15725732	E070	-5190
chr19	15750924	15752286	E072	20002
chr19	15739706	15739837	E073	8784
chr19	15739953	15740017	E073	9031
chr19	15745809	15746528	E073	14887
chr19	15746942	15747176	E073	16020
chr19	15750699	15750770	E073	19777
chr19	15750924	15752286	E073	20002
chr19	15752369	15752419	E073	21447
chr19	15739953	15740017	E081	9031
chr19	15740060	15740566	E081	9138

rs2176918