SNP Detail Info-rs7428007

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

PROS1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0361 (10829/29926,GnomAD)
G=0313 (9141/29118,TOPMED)
G=0392 (1961/5008,1000G)
G=0436 (1682/3854,ALSPAC)
G=0422 (1565/3708,TWINSUK)

Position: chr3:93919173 (GRCh38.p7) (3q11.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
PROS1 transcript variant 2	NM_000313.3:c.	N/A	Intron Variant
PROS1 transcript variant 1	NM_001314077.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.890	G=0.110
1000Genomes	American	Sub	694	A=0.530	G=0.470
1000Genomes	East Asian	Sub	1008	A=0.436	G=0.564
1000Genomes	Europe	Sub	1006	A=0.570	G=0.430
1000Genomes	Global	Study-wide	5008	A=0.608	G=0.392
1000Genomes	South Asian	Sub	978	A=0.500	G=0.500
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.564	G=0.436
The Genome Aggregation Database	African	Sub	8720	A=0.844	G=0.156
The Genome Aggregation Database	American	Sub	830	A=0.570	G=0.430
The Genome Aggregation Database	East Asian	Sub	1614	A=0.462	G=0.538
The Genome Aggregation Database	Europe	Sub	18460	A=0.558	G=0.441
The Genome Aggregation Database	Global	Study-wide	29926	A=0.638	G=0.361
The Genome Aggregation Database	Other	Sub	302	A=0.720	G=0.280
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.686	G=0.313
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.578	G=0.422

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs7428007	0.000477	alcohol dependence	21314694

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

rs7428007