SNP Detail Info-rs229609

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

SPTB : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0333 (9989/29924,GnomAD)
A=0412 (12024/29118,TOPMED)
A=0373 (1868/5008,1000G)
A=0234 (901/3854,ALSPAC)
A=0240 (891/3708,TWINSUK)

Position: chr14:64833092 (GRCh38.p7) (14q23.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 11 Enhancers around

Promoter: 12 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 14	NC_000014.9:g.64833092G>A
GRCh37.p13 chr 14	NC_000014.8:g.65299810G>A

Molecule type	Change	Amino acid[Codon]	SO Term
SPTB transcript variant 2	NM_000347.5:c.	N/A	Genic Upstream Transcript Variant
Protein-coding transcripts	NM_001024858.2:c.	N/A	Genic Upstream Transcript Variant
SPTB transcript variant X1	XM_005268023.4:c.	N/A	Intron Variant
SPTB transcript variant X5	XM_011537105.2:c.	N/A	Intron Variant
SPTB transcript variant X2	XM_017021612.1:c.	N/A	Intron Variant
SPTB transcript variant X3	XM_017021613.1:c.	N/A	Intron Variant
SPTB transcript variant X4	XM_017021614.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.321	A=0.679
1000Genomes	American	Sub	694	G=0.750	A=0.250
1000Genomes	East Asian	Sub	1008	G=0.846	A=0.154
1000Genomes	Europe	Sub	1006	G=0.763	A=0.237
1000Genomes	Global	Study-wide	5008	G=0.627	A=0.373
1000Genomes	South Asian	Sub	978	G=0.590	A=0.410
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.766	A=0.234
The Genome Aggregation Database	African	Sub	8706	G=0.383	A=0.617
The Genome Aggregation Database	American	Sub	838	G=0.780	A=0.220
The Genome Aggregation Database	East Asian	Sub	1616	G=0.848	A=0.152
The Genome Aggregation Database	Europe	Sub	18462	G=0.778	A=0.221
The Genome Aggregation Database	Global	Study-wide	29924	G=0.666	A=0.333
The Genome Aggregation Database	Other	Sub	302	G=0.640	A=0.360
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.587	A=0.412
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.760	A=0.240

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs229609	0.000581	alcohol consumption (maxi-drinks)	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr14:65299810	CHURC1	ENSG00000258289.3	G>A	0.0000e+0	-81269	Cerebellum

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr14	65289548	65289602	E067	-10208
chr14	65328561	65328658	E068	28751
chr14	65328718	65328953	E068	28908
chr14	65289656	65290712	E069	-9098
chr14	65345332	65345522	E070	45522
chr14	65289548	65289602	E073	-10208
chr14	65289656	65290712	E073	-9098
chr14	65289548	65289602	E074	-10208
chr14	65289656	65290712	E074	-9098
chr14	65345332	65345522	E081	45522
chr14	65348619	65348876	E082	48809

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr14	65345549	65347742	E067	45739
chr14	65347852	65347902	E067	48042
chr14	65345549	65347742	E068	45739
chr14	65347852	65347902	E068	48042
chr14	65345549	65347742	E069	45739
chr14	65345549	65347742	E070	45739
chr14	65345549	65347742	E071	45739
chr14	65345549	65347742	E072	45739
chr14	65347852	65347902	E072	48042
chr14	65345549	65347742	E073	45739
chr14	65345549	65347742	E074	45739
chr14	65345549	65347742	E082	45739

rs229609