SNP Detail Info-rs10488945

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

LOC105374482 : Non Coding Transcript Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0276 (8279/29960,GnomAD)
T==0300 (8740/29118,TOPMED)
T==0355 (1780/5008,1000G)
T==0193 (744/3854,ALSPAC)
T==0194 (718/3708,TWINSUK)

Position: chr4:10488654 (GRCh38.p7) (4p16.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 21 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.10488654T>G
GRCh37.p13 chr 4	NC_000004.11:g.10490278T>G

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105374482 transcript variant X1	XR_925387.2:n.257...XR_925387.2:n.2577T>G	T>G	Non Coding Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.414	G=0.586
1000Genomes	American	Sub	694	T=0.330	G=0.670
1000Genomes	East Asian	Sub	1008	T=0.381	G=0.619
1000Genomes	Europe	Sub	1006	T=0.219	G=0.781
1000Genomes	Global	Study-wide	5008	T=0.355	G=0.645
1000Genomes	South Asian	Sub	978	T=0.410	G=0.590
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.193	G=0.807
The Genome Aggregation Database	African	Sub	8714	T=0.382	G=0.618
The Genome Aggregation Database	American	Sub	838	T=0.300	G=0.700
The Genome Aggregation Database	East Asian	Sub	1618	T=0.360	G=0.640
The Genome Aggregation Database	Europe	Sub	18488	T=0.218	G=0.781
The Genome Aggregation Database	Global	Study-wide	29960	T=0.276	G=0.723
The Genome Aggregation Database	Other	Sub	302	T=0.250	G=0.750
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.300	G=0.699
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.194	G=0.806

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
rs10488945	0.000369	alcohol consumption (maxi-drinks)	24277619

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 )
chr4	10456911	10457063	E071	-33215

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr4	10457909	10459674	E067	-30604
chr4	10462738	10463512	E067	-26766
chr4	10457909	10459674	E068	-30604
chr4	10457909	10459674	E069	-30604
chr4	10462738	10463512	E069	-26766
chr4	10457909	10459674	E070	-30604
chr4	10462738	10463512	E070	-26766
chr4	10457909	10459674	E071	-30604
chr4	10462738	10463512	E071	-26766
chr4	10457909	10459674	E072	-30604
chr4	10462738	10463512	E072	-26766
chr4	10457909	10459674	E073	-30604
chr4	10462738	10463512	E073	-26766
chr4	10457909	10459674	E074	-30604
chr4	10462738	10463512	E074	-26766
chr4	10457909	10459674	E081	-30604
chr4	10463614	10463728	E081	-26550
chr4	10457909	10459674	E082	-30604
chr4	10462738	10463512	E082	-26766
chr4	10463614	10463728	E082	-26550
chr4	10463741	10463829	E082	-26449

rs10488945