rs12808922

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0088 (2646/29992,GnomAD)
G=0069 (2018/29118,TOPMED)
G=0083 (414/5008,1000G)
G=0119 (460/3854,ALSPAC)
G=0117 (432/3708,TWINSUK)

Position: chr11:79467767 (GRCh38.p7) (11q14.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 55 Enhancers around

Promoter: 7 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.79467767A>G
GRCh37.p13 chr 11	NC_000011.9:g.79178811A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.974	G=0.026
1000Genomes	American	Sub	694	A=0.920	G=0.080
1000Genomes	East Asian	Sub	1008	A=0.872	G=0.128
1000Genomes	Europe	Sub	1006	A=0.906	G=0.094
1000Genomes	Global	Study-wide	5008	A=0.917	G=0.083
1000Genomes	South Asian	Sub	978	A=0.900	G=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.881	G=0.119
The Genome Aggregation Database	African	Sub	8730	A=0.967	G=0.033
The Genome Aggregation Database	American	Sub	838	A=0.920	G=0.080
The Genome Aggregation Database	East Asian	Sub	1622	A=0.882	G=0.118
The Genome Aggregation Database	Europe	Sub	18500	A=0.888	G=0.111
The Genome Aggregation Database	Global	Study-wide	29992	A=0.911	G=0.088
The Genome Aggregation Database	Other	Sub	302	A=0.890	G=0.110
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.930	G=0.069
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.883	G=0.117

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

P-Value

SNP ID	p-value	Traits	Study
rs12808922	0.000348	alcohol consumption (maxi-drinks)	24277619

eQTL of rs12808922 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs12808922 in Fetal Brain

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

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr11	79129299	79130729	E068	-48082
chr11	79130839	79130993	E068	-47818
chr11	79134396	79134593	E068	-44218
chr11	79139532	79139842	E068	-38969
chr11	79153103	79153388	E068	-25423
chr11	79220138	79220189	E068	41327
chr11	79143692	79143946	E070	-34865
chr11	79132970	79133178	E081	-45633
chr11	79133407	79133497	E081	-45314
chr11	79133601	79133919	E081	-44892
chr11	79133968	79134132	E081	-44679
chr11	79134396	79134593	E081	-44218
chr11	79144227	79144401	E081	-34410
chr11	79144463	79144513	E081	-34298
chr11	79144530	79144610	E081	-34201
chr11	79144713	79144780	E081	-34031
chr11	79144943	79145001	E081	-33810
chr11	79145014	79145255	E081	-33556
chr11	79145456	79145625	E081	-33186
chr11	79145818	79145882	E081	-32929
chr11	79146462	79146592	E081	-32219
chr11	79146657	79146724	E081	-32087
chr11	79146934	79146984	E081	-31827
chr11	79147664	79147771	E081	-31040
chr11	79153103	79153388	E081	-25423
chr11	79171015	79171217	E081	-7594
chr11	79171314	79171410	E081	-7401
chr11	79172715	79173080	E081	-5731
chr11	79181293	79181454	E081	2482
chr11	79183802	79184782	E081	4991
chr11	79132970	79133178	E082	-45633
chr11	79133407	79133497	E082	-45314
chr11	79133601	79133919	E082	-44892
chr11	79133968	79134132	E082	-44679
chr11	79134396	79134593	E082	-44218
chr11	79139532	79139842	E082	-38969
chr11	79140338	79140403	E082	-38408
chr11	79141441	79141601	E082	-37210
chr11	79143484	79143542	E082	-35269
chr11	79143692	79143946	E082	-34865
chr11	79144227	79144401	E082	-34410
chr11	79144463	79144513	E082	-34298
chr11	79144530	79144610	E082	-34201
chr11	79144713	79144780	E082	-34031
chr11	79144943	79145001	E082	-33810
chr11	79145014	79145255	E082	-33556
chr11	79145456	79145625	E082	-33186
chr11	79145818	79145882	E082	-32929
chr11	79146462	79146592	E082	-32219
chr11	79146657	79146724	E082	-32087
chr11	79146934	79146984	E082	-31827
chr11	79153103	79153388	E082	-25423
chr11	79153470	79153520	E082	-25291
chr11	79153581	79153732	E082	-25079
chr11	79184982	79185032	E082	6171

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	79147841	79153047	E067	-25764
chr11	79147841	79153047	E068	-25764
chr11	79147841	79153047	E072	-25764
chr11	79147841	79153047	E073	-25764
chr11	79147841	79153047	E074	-25764
chr11	79147841	79153047	E081	-25764
chr11	79147841	79153047	E082	-25764