SNP Detail Info-rs300974

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

PRR16 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0299 (8975/29924,GnomAD)
G==0360 (10507/29118,TOPMED)
G==0325 (1629/5008,1000G)
G==0198 (765/3854,ALSPAC)
G==0198 (733/3708,TWINSUK)

Position: chr5:120534068 (GRCh38.p7) (5q23.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.120534068G>A
GRCh37.p13 chr 5	NC_000005.9:g.119869763G>A

Molecule type	Change	Amino acid[Codon]	SO Term
PRR16 transcript variant 1	NM_001300783.1:c.	N/A	Intron Variant
PRR16 transcript variant 3	NM_001308087.1:c.	N/A	Intron Variant
PRR16 transcript variant 4	NM_001308088.1:c.	N/A	Intron Variant
PRR16 transcript variant 2	NM_016644.2:c.	N/A	Intron Variant
PRR16 transcript variant X2	XM_011543453.2:c.	N/A	Intron Variant
PRR16 transcript variant X4	XM_011543454.2:c.	N/A	Intron Variant
PRR16 transcript variant X3	XM_011543452.2:c.	N/A	Genic Upstream Transcript Variant
PRR16 transcript variant X1	XR_001742093.1:n.	N/A	Intron Variant
PRR16 transcript variant X5	XR_001742094.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.622	A=0.378
1000Genomes	American	Sub	694	G=0.200	A=0.800
1000Genomes	East Asian	Sub	1008	G=0.145	A=0.855
1000Genomes	Europe	Sub	1006	G=0.204	A=0.796
1000Genomes	Global	Study-wide	5008	G=0.325	A=0.675
1000Genomes	South Asian	Sub	978	G=0.320	A=0.680
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.198	A=0.802
The Genome Aggregation Database	African	Sub	8708	G=0.576	A=0.424
The Genome Aggregation Database	American	Sub	838	G=0.170	A=0.830
The Genome Aggregation Database	East Asian	Sub	1606	G=0.142	A=0.858
The Genome Aggregation Database	Europe	Sub	18470	G=0.190	A=0.809
The Genome Aggregation Database	Global	Study-wide	29924	G=0.299	A=0.700
The Genome Aggregation Database	Other	Sub	302	G=0.240	A=0.760
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.360	A=0.639
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.198	A=0.802

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
27812135	Characterization and Genetic Analyses of New Genes Coding for NOD2 Interacting Proteins.	Thiebaut R	PLoS One

SNP ID	p-value	Traits	Study
rs300974	0.0008	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

rs300974