SNP Detail Info-rs17047975

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0079 (2370/29978,GnomAD)
G=0097 (2827/29116,TOPMED)
G=0100 (502/5008,1000G)
G=0042 (160/3854,ALSPAC)
G=0042 (156/3708,TWINSUK)

Position: chr2:56461262 (GRCh38.p7) (2p16.1)

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 2	NC_000002.12:g.56461262A>G
GRCh37.p13 chr 2	NC_000002.11:g.56688397A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.815	G=0.185
1000Genomes	American	Sub	694	A=0.880	G=0.120
1000Genomes	East Asian	Sub	1008	A=0.924	G=0.076
1000Genomes	Europe	Sub	1006	A=0.953	G=0.047
1000Genomes	Global	Study-wide	5008	A=0.900	G=0.100
1000Genomes	South Asian	Sub	978	A=0.950	G=0.050
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.958	G=0.042
The Genome Aggregation Database	African	Sub	8722	A=0.844	G=0.156
The Genome Aggregation Database	American	Sub	838	A=0.850	G=0.150
The Genome Aggregation Database	East Asian	Sub	1618	A=0.917	G=0.083
The Genome Aggregation Database	Europe	Sub	18500	A=0.960	G=0.039
The Genome Aggregation Database	Global	Study-wide	29978	A=0.920	G=0.079
The Genome Aggregation Database	Other	Sub	300	A=0.960	G=0.040
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.902	G=0.097
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.958	G=0.042

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
rs17047975	0.00074	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

rs17047975