SNP Detail Info-rs17128651

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

COL24A1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0111 (3339/29954,GnomAD)
A=0122 (3577/29118,TOPMED)
A=0199 (997/5008,1000G)
A=0044 (169/3854,ALSPAC)
A=0036 (134/3708,TWINSUK)

Position: chr1:86000053 (GRCh38.p7) (1p22.3)

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 1	NC_000001.11:g.86000053G>A
GRCh37.p13 chr 1	NC_000001.10:g.86465736G>A

Molecule type	Change	Amino acid[Codon]	SO Term
COL24A1 transcript	NM_152890.5:c.	N/A	Intron Variant
COL24A1 transcript variant X1	XM_017000924.1:c.	N/A	Intron Variant
COL24A1 transcript variant X2	XM_017000925.1:c.	N/A	Intron Variant
COL24A1 transcript variant X3	XM_017000926.1:c.	N/A	Intron Variant
COL24A1 transcript variant X4	XM_017000927.1:c.	N/A	Intron Variant
COL24A1 transcript variant X6	XM_017000928.1:c.	N/A	Intron Variant
COL24A1 transcript variant X7	XM_017000929.1:c.	N/A	Intron Variant
COL24A1 transcript variant X8	XM_017000930.1:c.	N/A	Intron Variant
COL24A1 transcript variant X5	XR_001737092.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.786	A=0.214
1000Genomes	American	Sub	694	G=0.920	A=0.080
1000Genomes	East Asian	Sub	1008	G=0.552	A=0.448
1000Genomes	Europe	Sub	1006	G=0.956	A=0.044
1000Genomes	Global	Study-wide	5008	G=0.801	A=0.199
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=0.956	A=0.044
The Genome Aggregation Database	African	Sub	8712	G=0.796	A=0.204
The Genome Aggregation Database	American	Sub	838	G=0.950	A=0.050
The Genome Aggregation Database	East Asian	Sub	1612	G=0.577	A=0.423
The Genome Aggregation Database	Europe	Sub	18490	G=0.955	A=0.044
The Genome Aggregation Database	Global	Study-wide	29954	G=0.888	A=0.111
The Genome Aggregation Database	Other	Sub	302	G=0.970	A=0.030
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.877	A=0.122
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.964	A=0.036

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
rs17128651	0.00011	alcohol dependence(early age of onset)	20201924
rs17128651	0.00077	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr1:86465736	COL24A1	ENSG00000171502.10	G>A	4.0640e-8	-156890	Putamen_basal_ganglia

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

rs17128651