SNP Detail Info-rs2473250

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0249 (7470/29904,GnomAD)
G=0273 (7963/29118,TOPMED)
G=0258 (1290/5008,1000G)

Position: chr1:22211156 (GRCh38.p7) (1p36.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 44 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.22211156A>G
GRCh37.p13 chr 1	NC_000001.10:g.22537649A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.523	G=0.477
1000Genomes	American	Sub	694	A=0.870	G=0.130
1000Genomes	East Asian	Sub	1008	A=0.857	G=0.143
1000Genomes	Europe	Sub	1006	A=0.808	G=0.192
1000Genomes	Global	Study-wide	5008	A=0.742	G=0.258
1000Genomes	South Asian	Sub	978	A=0.760	G=0.240
The Genome Aggregation Database	African	Sub	8688	A=0.586	G=0.414
The Genome Aggregation Database	American	Sub	838	A=0.870	G=0.130
The Genome Aggregation Database	East Asian	Sub	1620	A=0.852	G=0.148
The Genome Aggregation Database	Europe	Sub	18456	A=0.812	G=0.187
The Genome Aggregation Database	Global	Study-wide	29904	A=0.750	G=0.249
The Genome Aggregation Database	Other	Sub	302	A=0.790	G=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.726	G=0.273

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
rs2473250	0.000777	alcohol dependence	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 )
chr1	22531777	22532008	E067	-5641
chr1	22531598	22531738	E069	-5911
chr1	22531777	22532008	E069	-5641
chr1	22531777	22532008	E070	-5641
chr1	22534066	22534195	E070	-3454
chr1	22534924	22534987	E070	-2662
chr1	22535083	22535382	E070	-2267
chr1	22535723	22535899	E070	-1750
chr1	22535933	22536044	E070	-1605
chr1	22572400	22572608	E070	34751
chr1	22572669	22572721	E070	35020
chr1	22531777	22532008	E071	-5641
chr1	22581387	22581472	E071	43738
chr1	22531777	22532008	E072	-5641
chr1	22511500	22511599	E081	-26050
chr1	22511640	22511701	E081	-25948
chr1	22511782	22512043	E081	-25606
chr1	22531489	22531579	E081	-6070
chr1	22531598	22531738	E081	-5911
chr1	22531777	22532008	E081	-5641
chr1	22534066	22534195	E081	-3454
chr1	22534383	22534794	E081	-2855
chr1	22534924	22534987	E081	-2662
chr1	22535083	22535382	E081	-2267
chr1	22560675	22560766	E081	23026
chr1	22560889	22561001	E081	23240
chr1	22562838	22563052	E081	25189
chr1	22580097	22580349	E081	42448
chr1	22580447	22580682	E081	42798
chr1	22580761	22581011	E081	43112
chr1	22511500	22511599	E082	-26050
chr1	22511640	22511701	E082	-25948
chr1	22511782	22512043	E082	-25606
chr1	22531598	22531738	E082	-5911
chr1	22531777	22532008	E082	-5641
chr1	22533414	22533510	E082	-4139
chr1	22534066	22534195	E082	-3454
chr1	22534383	22534794	E082	-2855
chr1	22534924	22534987	E082	-2662
chr1	22535083	22535382	E082	-2267
chr1	22560889	22561001	E082	23240
chr1	22561044	22561385	E082	23395
chr1	22580447	22580682	E082	42798
chr1	22580761	22581011	E082	43112

rs2473250