SNP Detail Info-rs2195115

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

TEX41 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0201 (6028/29934,GnomAD)
A=0147 (4284/29118,TOPMED)
A=0191 (955/5008,1000G)
A=0260 (1003/3854,ALSPAC)
A=0250 (926/3708,TWINSUK)

Position: chr2:144688638 (GRCh38.p7) (2q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 20 Enhancers around

Promoter: 9 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.144688638G>A
GRCh37.p13 chr 2	NC_000002.11:g.145446205G>A

Molecule type	Change	Amino acid[Codon]	SO Term
TEX41 transcript	NR_033870.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.965	A=0.035
1000Genomes	American	Sub	694	G=0.800	A=0.200
1000Genomes	East Asian	Sub	1008	G=0.780	A=0.220
1000Genomes	Europe	Sub	1006	G=0.731	A=0.269
1000Genomes	Global	Study-wide	5008	G=0.809	A=0.191
1000Genomes	South Asian	Sub	978	G=0.720	A=0.280
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.740	A=0.260
The Genome Aggregation Database	African	Sub	8714	G=0.931	A=0.069
The Genome Aggregation Database	American	Sub	834	G=0.820	A=0.180
The Genome Aggregation Database	East Asian	Sub	1612	G=0.806	A=0.194
The Genome Aggregation Database	Europe	Sub	18472	G=0.735	A=0.264
The Genome Aggregation Database	Global	Study-wide	29934	G=0.798	A=0.201
The Genome Aggregation Database	Other	Sub	302	G=0.760	A=0.240
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.852	A=0.147
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.750	A=0.250

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
rs2195115	0.000952	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 )
chr2	145439933	145440509	E067	-5696
chr2	145440773	145440906	E067	-5299
chr2	145465725	145465850	E067	19520
chr2	145465725	145465850	E068	19520
chr2	145465725	145465850	E069	19520
chr2	145466243	145466529	E069	20038
chr2	145408523	145408721	E070	-37484
chr2	145465725	145465850	E070	19520
chr2	145465366	145465700	E071	19161
chr2	145466243	145466529	E071	20038
chr2	145465725	145465850	E072	19520
chr2	145466243	145466529	E072	20038
chr2	145465366	145465700	E074	19161
chr2	145465725	145465850	E074	19520
chr2	145466243	145466529	E074	20038
chr2	145469196	145469276	E081	22991
chr2	145469357	145469673	E081	23152
chr2	145469778	145470030	E081	23573
chr2	145465366	145465700	E082	19161
chr2	145465725	145465850	E082	19520

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	145406735	145406931	E067	-39274
chr2	145406735	145406931	E068	-39274
chr2	145406735	145406931	E069	-39274
chr2	145406735	145406931	E070	-39274
chr2	145406735	145406931	E071	-39274
chr2	145406735	145406931	E072	-39274
chr2	145406735	145406931	E073	-39274
chr2	145406735	145406931	E074	-39274
chr2	145406735	145406931	E082	-39274

rs2195115