rs16840183

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0075 (2257/30002,GnomAD)
G=0065 (1909/29118,TOPMED)
G=0146 (732/5008,1000G)
G=0051 (197/3854,ALSPAC)
G=0049 (180/3708,TWINSUK)

Position: chr1:5220442 (GRCh38.p7) (1p36.32)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 51 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.5220442T>G
GRCh37.p13 chr 1	NC_000001.10:g.5280502T>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.955	G=0.045
1000Genomes	American	Sub	694	T=0.740	G=0.260
1000Genomes	East Asian	Sub	1008	T=0.770	G=0.230
1000Genomes	Europe	Sub	1006	T=0.945	G=0.055
1000Genomes	Global	Study-wide	5008	T=0.854	G=0.146
1000Genomes	South Asian	Sub	978	T=0.790	G=0.210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.949	G=0.051
The Genome Aggregation Database	African	Sub	8730	T=0.944	G=0.056
The Genome Aggregation Database	American	Sub	838	T=0.750	G=0.250
The Genome Aggregation Database	East Asian	Sub	1622	T=0.764	G=0.236
The Genome Aggregation Database	Europe	Sub	18510	T=0.937	G=0.062
The Genome Aggregation Database	Global	Study-wide	30002	T=0.924	G=0.075
The Genome Aggregation Database	Other	Sub	302	T=0.960	G=0.040
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.934	G=0.065
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.951	G=0.049

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

SNP ID	p-value	Traits	Study
rs16840183	1.15E-05	alcohol consumption	23953852

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 )
chr1	5280660	5281294	E067	158
chr1	5281434	5281655	E067	932
chr1	5298476	5298644	E067	17974
chr1	5298929	5299093	E067	18427
chr1	5299366	5299667	E067	18864
chr1	5300132	5300318	E067	19630
chr1	5300434	5300488	E067	19932
chr1	5283496	5283575	E068	2994
chr1	5298929	5299093	E068	18427
chr1	5300132	5300318	E068	19630
chr1	5283496	5283575	E069	2994
chr1	5298476	5298644	E069	17974
chr1	5298929	5299093	E069	18427
chr1	5299366	5299667	E069	18864
chr1	5300132	5300318	E069	19630
chr1	5251531	5251581	E070	-28921
chr1	5251595	5251666	E070	-28836
chr1	5251667	5251853	E070	-28649
chr1	5298476	5298644	E070	17974
chr1	5298929	5299093	E070	18427
chr1	5299366	5299667	E070	18864
chr1	5300132	5300318	E070	19630
chr1	5300434	5300488	E070	19932
chr1	5283496	5283575	E071	2994
chr1	5298476	5298644	E071	17974
chr1	5299366	5299667	E071	18864
chr1	5300132	5300318	E071	19630
chr1	5300434	5300488	E071	19932
chr1	5283496	5283575	E072	2994
chr1	5298929	5299093	E072	18427
chr1	5299366	5299667	E072	18864
chr1	5300132	5300318	E072	19630
chr1	5300434	5300488	E072	19932
chr1	5298476	5298644	E073	17974
chr1	5298929	5299093	E073	18427
chr1	5283496	5283575	E074	2994
chr1	5299366	5299667	E074	18864
chr1	5300132	5300318	E074	19630
chr1	5300434	5300488	E074	19932
chr1	5280660	5281294	E081	158
chr1	5281434	5281655	E081	932
chr1	5291637	5292502	E081	11135
chr1	5298476	5298644	E081	17974
chr1	5298929	5299093	E081	18427
chr1	5299366	5299667	E081	18864
chr1	5325458	5326053	E081	44956
chr1	5327621	5327734	E081	47119
chr1	5327773	5327995	E081	47271
chr1	5280660	5281294	E082	158
chr1	5291637	5292502	E082	11135
chr1	5325458	5326053	E082	44956