SNP Detail Info-rs8036265

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

UNC13C : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0332 (9904/29818,GnomAD)
A=0318 (9267/29118,TOPMED)
A=0330 (1654/5008,1000G)
A=0292 (1124/3854,ALSPAC)
A=0279 (1036/3708,TWINSUK)

Position: chr15:54183938 (GRCh38.p7) (15q21.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 15	NC_000015.10:g.54183938G>A
GRCh37.p13 chr 15	NC_000015.9:g.54476135G>A

Molecule type	Change	Amino acid[Codon]	SO Term
UNC13C transcript	NM_001080534.1:c.	N/A	Intron Variant
UNC13C transcript variant X1	XM_005254394.4:c.	N/A	Intron Variant
UNC13C transcript variant X2	XM_017022220.1:c.	N/A	Intron Variant
UNC13C transcript variant X3	XM_017022221.1:c.	N/A	Intron Variant
UNC13C transcript variant X4	XM_017022222.1:c.	N/A	Intron Variant
UNC13C transcript variant X5	XM_017022223.1:c.	N/A	Intron Variant
UNC13C transcript variant X6	XM_017022224.1:c.	N/A	Intron Variant
UNC13C transcript variant X7	XM_017022225.1:c.	N/A	Intron Variant
UNC13C transcript variant X6	XR_001751291.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.538	A=0.462
1000Genomes	American	Sub	694	G=0.790	A=0.210
1000Genomes	East Asian	Sub	1008	G=0.545	A=0.455
1000Genomes	Europe	Sub	1006	G=0.735	A=0.265
1000Genomes	Global	Study-wide	5008	G=0.670	A=0.330
1000Genomes	South Asian	Sub	978	G=0.830	A=0.170
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.708	A=0.292
The Genome Aggregation Database	African	Sub	8692	G=0.592	A=0.408
The Genome Aggregation Database	American	Sub	830	G=0.770	A=0.230
The Genome Aggregation Database	East Asian	Sub	1602	G=0.560	A=0.440
The Genome Aggregation Database	Europe	Sub	18392	G=0.706	A=0.293
The Genome Aggregation Database	Global	Study-wide	29818	G=0.667	A=0.332
The Genome Aggregation Database	Other	Sub	302	G=0.820	A=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.681	A=0.318
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.721	A=0.279

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
rs8036265	0.00063	alcohol dependence(early age of onset)	20201924
rs8036265	0.00067	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

rs8036265