SNP Detail Info-rs9318714

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105377818 : Non Coding Transcript Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0240 (7175/29882,GnomAD)
A=0219 (6400/29118,TOPMED)
A=0208 (1043/5008,1000G)

Position: chr13:80781488 (GRCh38.p7) (13q31.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.80781488G>A
GRCh37.p13 chr 13	NC_000013.10:g.81355623G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105377818 transcript variant X3	XR_001749942.1:n....XR_001749942.1:n.5385G>A	G>A	Non Coding Transcript Variant
LOC105377818 transcript variant X4	XR_001749943.1:n....XR_001749943.1:n.5385G>A	G>A	Non Coding Transcript Variant
LOC105377818 transcript variant X2	XR_001749940.1:n.	N/A	Intron Variant
LOC105377818 transcript variant X1	XR_001749941.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.989	A=0.011
1000Genomes	American	Sub	694	G=0.610	A=0.390
1000Genomes	East Asian	Sub	1008	G=0.672	A=0.328
1000Genomes	Europe	Sub	1006	G=0.702	A=0.298
1000Genomes	Global	Study-wide	5008	G=0.792	A=0.208
1000Genomes	South Asian	Sub	978	G=0.870	A=0.130
The Genome Aggregation Database	African	Sub	8718	G=0.940	A=0.060
The Genome Aggregation Database	American	Sub	834	G=0.660	A=0.340
The Genome Aggregation Database	East Asian	Sub	1588	G=0.622	A=0.378
The Genome Aggregation Database	Europe	Sub	18440	G=0.692	A=0.307
The Genome Aggregation Database	Global	Study-wide	29882	G=0.759	A=0.240
The Genome Aggregation Database	Other	Sub	302	G=0.680	A=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.780	A=0.219

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs9318714	0.000178	alcohol dependence	20201924

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 )
chr13	81357838	81358729	E067	2215
chr13	81357838	81358729	E069	2215
chr13	81357838	81358729	E071	2215
chr13	81357331	81357425	E072	1708
chr13	81357482	81357579	E072	1859
chr13	81357650	81357766	E072	2027
chr13	81357838	81358729	E072	2215
chr13	81357650	81357766	E074	2027
chr13	81357838	81358729	E074	2215
chr13	81356721	81357127	E081	1098
chr13	81357331	81357425	E081	1708
chr13	81357482	81357579	E081	1859
chr13	81357650	81357766	E081	2027
chr13	81357838	81358729	E081	2215
chr13	81358944	81358994	E081	3321
chr13	81329953	81330446	E082	-25177
chr13	81357838	81358729	E082	2215

rs9318714