SNP Detail Info-rs12448290

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

CDYL2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0421 (12573/29860,GnomAD)
G=0488 (14218/29118,TOPMED)
G=0469 (2349/5008,1000G)
G=0270 (1041/3854,ALSPAC)
G=0276 (1022/3708,TWINSUK)

Position: chr16:80621986 (GRCh38.p7) (16q23.2)

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 16	NC_000016.10:g.80621986T>G
GRCh37.p13 chr 16	NC_000016.9:g.80655883T>G

Molecule type	Change	Amino acid[Codon]	SO Term
CDYL2 transcript	NM_152342.3:c.	N/A	Intron Variant
CDYL2 transcript variant X1	XM_011522866.1:c.	N/A	Intron Variant
CDYL2 transcript variant X2	XM_011522867.2:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.200	G=0.800
1000Genomes	American	Sub	694	T=0.490	G=0.510
1000Genomes	East Asian	Sub	1008	T=0.660	G=0.340
1000Genomes	Europe	Sub	1006	T=0.694	G=0.306
1000Genomes	Global	Study-wide	5008	T=0.531	G=0.469
1000Genomes	South Asian	Sub	978	T=0.710	G=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.730	G=0.270
The Genome Aggregation Database	African	Sub	8672	T=0.288	G=0.712
The Genome Aggregation Database	American	Sub	834	T=0.460	G=0.540
The Genome Aggregation Database	East Asian	Sub	1608	T=0.669	G=0.331
The Genome Aggregation Database	Europe	Sub	18444	T=0.711	G=0.288
The Genome Aggregation Database	Global	Study-wide	29860	T=0.578	G=0.421
The Genome Aggregation Database	Other	Sub	302	T=0.700	G=0.300
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.511	G=0.488
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.724	G=0.276

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
21818250	Genomic regions identified by overlapping clusters of nominally-positive SNPs from genome-wide studies of alcohol and illegal substance dependence.	Johnson C	PLoS One

SNP ID	p-value	Traits	Study
rs12448290	0.00043	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
cg06698470	chr16:80654751	CDYL2	0.0546748381069606	8.9437e-10

rs12448290