SNP Detail Info-rs917857

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

VWF : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0333 (9953/29888,GnomAD)
A=0287 (8373/29118,TOPMED)
A=0246 (1232/5008,1000G)
A=0427 (1645/3854,ALSPAC)
A=0442 (1638/3708,TWINSUK)

Position: chr12:5972658 (GRCh38.p7) (12p13.31)

Phenotype: CD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 14 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
VWF transcript	NM_000552.4:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.933	A=0.067
1000Genomes	American	Sub	694	G=0.660	A=0.340
1000Genomes	East Asian	Sub	1008	G=0.835	A=0.165
1000Genomes	Europe	Sub	1006	G=0.540	A=0.460
1000Genomes	Global	Study-wide	5008	G=0.754	A=0.246
1000Genomes	South Asian	Sub	978	G=0.710	A=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.573	A=0.427
The Genome Aggregation Database	African	Sub	8684	G=0.879	A=0.121
The Genome Aggregation Database	American	Sub	838	G=0.700	A=0.300
The Genome Aggregation Database	East Asian	Sub	1616	G=0.821	A=0.179
The Genome Aggregation Database	Europe	Sub	18448	G=0.555	A=0.444
The Genome Aggregation Database	Global	Study-wide	29888	G=0.667	A=0.333
The Genome Aggregation Database	Other	Sub	302	G=0.480	A=0.520
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.712	A=0.287
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.558	A=0.442

PMID	Title	Author	Journal
27224245	Von Willebrand Factor Gene Variants Associate with Herpes simplex Encephalitis.	Abdelmagid N	PLoS One
23958962	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Gelernter J	Mol Psychiatry

SNP ID	p-value	Traits	Study
rs917857	0.000212	cocaine dependence	23958962

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 )
chr12	6097830	6098301	E067	16006
chr12	6097830	6098301	E068	16006
chr12	6032594	6032644	E070	-49180
chr12	6032765	6032894	E070	-48930
chr12	6032997	6033567	E070	-48257
chr12	6097830	6098301	E071	16006
chr12	6032594	6032644	E072	-49180
chr12	6032765	6032894	E072	-48930
chr12	6097830	6098301	E072	16006
chr12	6097830	6098301	E073	16006
chr12	6075479	6075598	E074	-6226
chr12	6032594	6032644	E081	-49180
chr12	6094688	6094767	E081	12864
chr12	6094909	6095123	E081	13085
chr12	6032594	6032644	E082	-49180
chr12	6032765	6032894	E082	-48930
chr12	6032997	6033567	E082	-48257

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	6054195	6054833	E067	-26991
chr12	6054195	6054833	E068	-26991
chr12	6054195	6054833	E069	-26991
chr12	6054195	6054833	E070	-26991
chr12	6053783	6054179	E071	-27645
chr12	6054195	6054833	E071	-26991
chr12	6053783	6054179	E072	-27645
chr12	6054195	6054833	E072	-26991
chr12	6054900	6055123	E072	-26701
chr12	6053783	6054179	E073	-27645
chr12	6054195	6054833	E073	-26991
chr12	6054195	6054833	E074	-26991
chr12	6053783	6054179	E082	-27645
chr12	6054195	6054833	E082	-26991

rs917857