rs11066660

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105369990 : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0177 (5272/29716,GnomAD)
A=0162 (4738/29118,TOPMED)
A=0119 (596/5008,1000G)
A=0268 (1034/3854,ALSPAC)
A=0275 (1020/3708,TWINSUK)

Position: chr12:113638849 (GRCh38.p7) (12q24.13)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 42 Enhancers around

Promoter: 10 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.113638849G>A
GRCh37.p13 chr 12	NC_000012.11:g.114076654G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105369990 transcript variant X2	XR_945348.1:n.	N/A	Upstream Transcript Variant
LOC105369990 transcript variant X1	XR_945347.1:n.	N/A	N/A

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.989	A=0.011
1000Genomes	American	Sub	694	G=0.820	A=0.180
1000Genomes	East Asian	Sub	1008	G=0.946	A=0.054
1000Genomes	Europe	Sub	1006	G=0.766	A=0.234
1000Genomes	Global	Study-wide	5008	G=0.881	A=0.119
1000Genomes	South Asian	Sub	978	G=0.830	A=0.170
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.732	A=0.268
The Genome Aggregation Database	African	Sub	8666	G=0.954	A=0.046
The Genome Aggregation Database	American	Sub	828	G=0.840	A=0.160
The Genome Aggregation Database	East Asian	Sub	1620	G=0.927	A=0.073
The Genome Aggregation Database	Europe	Sub	18302	G=0.753	A=0.246
The Genome Aggregation Database	Global	Study-wide	29716	G=0.822	A=0.177
The Genome Aggregation Database	Other	Sub	300	G=0.660	A=0.340
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.837	A=0.162
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.725	A=0.275

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
rs11066660	0.000459	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

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr12	114071915	114072035	E070	-4619
chr12	114072355	114072407	E070	-4247
chr12	114072417	114072560	E070	-4094
chr12	114072623	114072736	E070	-3918
chr12	114072971	114073097	E070	-3557
chr12	114073174	114073303	E070	-3351
chr12	114101763	114102241	E070	25109
chr12	114116432	114116482	E070	39778
chr12	114116552	114116612	E070	39898
chr12	114121544	114121651	E070	44890
chr12	114121781	114121841	E070	45127
chr12	114121882	114122013	E070	45228
chr12	114122015	114122240	E070	45361
chr12	114123148	114123691	E071	46494
chr12	114123010	114123060	E074	46356
chr12	114076926	114076976	E081	272
chr12	114077055	114077216	E081	401
chr12	114077273	114077323	E081	619
chr12	114098689	114099108	E081	22035
chr12	114099626	114099680	E081	22972
chr12	114101634	114101706	E081	24980
chr12	114101763	114102241	E081	25109
chr12	114102250	114102718	E081	25596
chr12	114102802	114102860	E081	26148
chr12	114103219	114103291	E081	26565
chr12	114111217	114111353	E081	34563
chr12	114111440	114111500	E081	34786
chr12	114111844	114111894	E081	35190
chr12	114112945	114113061	E081	36291
chr12	114121781	114121841	E081	45127
chr12	114121882	114122013	E081	45228
chr12	114123010	114123060	E081	46356
chr12	114123148	114123691	E081	46494
chr12	114101763	114102241	E082	25109
chr12	114102250	114102718	E082	25596
chr12	114121781	114121841	E082	45127
chr12	114121882	114122013	E082	45228
chr12	114122015	114122240	E082	45361
chr12	114122571	114122625	E082	45917
chr12	114122640	114122690	E082	45986
chr12	114123010	114123060	E082	46356
chr12	114123148	114123691	E082	46494

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	114029246	114029627	E070	-47027
chr12	114029634	114029804	E070	-46850
chr12	114075681	114076069	E070	-585
chr12	114076109	114076249	E070	-405
chr12	114076266	114076627	E070	-27
chr12	114029246	114029627	E082	-47027
chr12	114029634	114029804	E082	-46850
chr12	114075681	114076069	E082	-585
chr12	114076109	114076249	E082	-405
chr12	114076266	114076627	E082	-27