SNP Detail Info-rs3794987

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CYP4F3 : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0460 (13743/29824,GnomAD)
G=0441 (12864/29118,TOPMED)
G=0361 (1807/5008,1000G)
A==0464 (1790/3854,ALSPAC)
A==0470 (1741/3708,TWINSUK)

Position: chr19:15640081 (GRCh38.p7) (19p13.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
CYP4F3 transcript variant 1	NM_000896.2:c.	N/A	Upstream Transcript Variant
CYP4F3 transcript variant 2	NM_001199208.1:c.	N/A	Upstream Transcript Variant
CYP4F3 transcript variant 3	NM_001199209.1:c.	N/A	Upstream Transcript Variant
CYP4F3 transcript variant X3	XM_005259911.4:c.	N/A	Upstream Transcript Variant
CYP4F3 transcript variant X1	XM_017026814.1:c.	N/A	Upstream Transcript Variant
CYP4F3 transcript variant X1	XM_017026815.1:c.	N/A	Upstream Transcript Variant
CYP4F3 transcript variant X4	XM_011528014.2:c.	N/A	N/A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.657	G=0.343
1000Genomes	American	Sub	694	A=0.630	G=0.370
1000Genomes	East Asian	Sub	1008	A=0.810	G=0.190
1000Genomes	Europe	Sub	1006	A=0.466	G=0.534
1000Genomes	Global	Study-wide	5008	A=0.639	G=0.361
1000Genomes	South Asian	Sub	978	A=0.620	G=0.380
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.464	G=0.536
The Genome Aggregation Database	African	Sub	8674	A=0.643	G=0.357
The Genome Aggregation Database	American	Sub	836	A=0.580	G=0.420
The Genome Aggregation Database	East Asian	Sub	1616	A=0.800	G=0.200
The Genome Aggregation Database	Europe	Sub	18396	A=0.465	G=0.534
The Genome Aggregation Database	Global	Study-wide	29824	A=0.539	G=0.460
The Genome Aggregation Database	Other	Sub	302	A=0.560	G=0.440
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.558	G=0.441
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.470	G=0.530

PMID	Title	Author	Journal
21904596	Genetic variation of the human alpha-2-Heremans-Schmid glycoprotein (AHSG) gene associated with the risk of SARS-CoV infection.	Zhu X	PLoS One
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res
21187935	Genes involved in the metabolism of poly-unsaturated fatty-acids (PUFA) and risk for Crohn's disease in children & young adults.	Costea I	PLoS One

SNP ID	p-value	Traits	Study
rs3794987	1.16E-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	33
chr19	15752369	15752419	E069	1478
chr19	15752713	15752763	E069	1822
chr19	15725439	15725567	E070	-25324
chr19	15725682	15725732	E070	-25159
chr19	15783119	15784462	E070	32228
chr19	15750924	15752286	E072	33
chr19	15783119	15784462	E072	32228
chr19	15739706	15739837	E073	-11054
chr19	15739953	15740017	E073	-10874
chr19	15745809	15746528	E073	-4363
chr19	15746942	15747176	E073	-3715
chr19	15750699	15750770	E073	-121
chr19	15750924	15752286	E073	33
chr19	15752369	15752419	E073	1478
chr19	15739953	15740017	E081	-10874
chr19	15740060	15740566	E081	-10325

rs3794987