rs11667049

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0257 (7712/29936,GnomAD)
G=0245 (7148/29118,TOPMED)
G=0289 (1449/5008,1000G)
G=0308 (1188/3854,ALSPAC)
G=0290 (1075/3708,TWINSUK)

Position: chr19:5421951 (GRCh38.p7) (19p13.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 87 Enhancers around

Promoter: 6 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.5421951A>G
GRCh37.p13 chr 19	NC_000019.9:g.5421962A>G

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.899	G=0.101
1000Genomes	American	Sub	694	A=0.600	G=0.400
1000Genomes	East Asian	Sub	1008	A=0.658	G=0.342
1000Genomes	Europe	Sub	1006	A=0.708	G=0.292
1000Genomes	Global	Study-wide	5008	A=0.711	G=0.289
1000Genomes	South Asian	Sub	978	A=0.590	G=0.410
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.692	G=0.308
The Genome Aggregation Database	African	Sub	8720	A=0.863	G=0.137
The Genome Aggregation Database	American	Sub	838	A=0.600	G=0.400
The Genome Aggregation Database	East Asian	Sub	1616	A=0.653	G=0.347
The Genome Aggregation Database	Europe	Sub	18460	A=0.701	G=0.298
The Genome Aggregation Database	Global	Study-wide	29936	A=0.742	G=0.257
The Genome Aggregation Database	Other	Sub	302	A=0.610	G=0.390
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.754	G=0.245
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.710	G=0.290

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
rs11667049	0.000677	alcohol consumption (maxi-drinks)	24277619

eQTL of rs11667049 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 rs11667049 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 )
chr19	5396047	5396315	E067	-25647
chr19	5396382	5396631	E067	-25331
chr19	5466788	5467326	E069	44826
chr19	5467376	5467513	E069	45414
chr19	5467546	5467724	E069	45584
chr19	5394492	5394558	E070	-27404
chr19	5394711	5394788	E070	-27174
chr19	5395703	5395826	E070	-26136
chr19	5396047	5396315	E070	-25647
chr19	5396382	5396631	E070	-25331
chr19	5397815	5398276	E070	-23686
chr19	5398302	5398853	E070	-23109
chr19	5402496	5402575	E070	-19387
chr19	5416382	5416432	E070	-5530
chr19	5416601	5416651	E070	-5311
chr19	5416715	5416825	E070	-5137
chr19	5417700	5417770	E070	-4192
chr19	5420846	5420916	E070	-1046
chr19	5421081	5421287	E070	-675
chr19	5421333	5421461	E070	-501
chr19	5431033	5431186	E070	9071
chr19	5447845	5447988	E070	25883
chr19	5448004	5448441	E070	26042
chr19	5451444	5452073	E070	29482
chr19	5466574	5466737	E070	44612
chr19	5466788	5467326	E070	44826
chr19	5467376	5467513	E070	45414
chr19	5467546	5467724	E070	45584
chr19	5396047	5396315	E071	-25647
chr19	5466788	5467326	E072	44826
chr19	5467376	5467513	E072	45414
chr19	5467546	5467724	E072	45584
chr19	5466788	5467326	E074	44826
chr19	5372290	5372344	E081	-49618
chr19	5394492	5394558	E081	-27404
chr19	5394711	5394788	E081	-27174
chr19	5395703	5395826	E081	-26136
chr19	5396047	5396315	E081	-25647
chr19	5396382	5396631	E081	-25331
chr19	5397815	5398276	E081	-23686
chr19	5398302	5398853	E081	-23109
chr19	5420846	5420916	E081	-1046
chr19	5421081	5421287	E081	-675
chr19	5421333	5421461	E081	-501
chr19	5425850	5426129	E081	3888
chr19	5435974	5436024	E081	14012
chr19	5444558	5444658	E081	22596
chr19	5444755	5444809	E081	22793
chr19	5445285	5445719	E081	23323
chr19	5445740	5445867	E081	23778
chr19	5447005	5447055	E081	25043
chr19	5447845	5447988	E081	25883
chr19	5448004	5448441	E081	26042
chr19	5448495	5448667	E081	26533
chr19	5450645	5451185	E081	28683
chr19	5451241	5451417	E081	29279
chr19	5451444	5452073	E081	29482
chr19	5452369	5452419	E081	30407
chr19	5452505	5452563	E081	30543
chr19	5452690	5452779	E081	30728
chr19	5466788	5467326	E081	44826
chr19	5467376	5467513	E081	45414
chr19	5467546	5467724	E081	45584
chr19	5395703	5395826	E082	-26136
chr19	5396047	5396315	E082	-25647
chr19	5396382	5396631	E082	-25331
chr19	5397815	5398276	E082	-23686
chr19	5420846	5420916	E082	-1046
chr19	5421333	5421461	E082	-501
chr19	5425850	5426129	E082	3888
chr19	5426276	5426357	E082	4314
chr19	5426377	5426685	E082	4415
chr19	5445285	5445719	E082	23323
chr19	5445740	5445867	E082	23778
chr19	5447845	5447988	E082	25883
chr19	5448004	5448441	E082	26042
chr19	5448495	5448667	E082	26533
chr19	5450645	5451185	E082	28683
chr19	5451241	5451417	E082	29279
chr19	5451444	5452073	E082	29482
chr19	5461825	5461875	E082	39863
chr19	5461988	5462042	E082	40026
chr19	5462100	5462209	E082	40138
chr19	5466574	5466737	E082	44612
chr19	5466788	5467326	E082	44826
chr19	5467376	5467513	E082	45414
chr19	5467546	5467724	E082	45584

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	5436053	5437319	E069	14091
chr19	5436053	5437319	E070	14091
chr19	5436053	5437319	E071	14091
chr19	5436053	5437319	E072	14091
chr19	5436053	5437319	E073	14091
chr19	5436053	5437319	E082	14091