rs2033316

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

EFEMP1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0259 (7756/29912,GnomAD)
G=0315 (9174/29116,TOPMED)
G=0262 (1313/5008,1000G)
G=0223 (861/3854,ALSPAC)
G=0226 (837/3708,TWINSUK)

Position: chr2:55913396 (GRCh38.p7) (2p16.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 26 Enhancers around

Promoter: 42 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
EFEMP1 transcript variant 2	NM_001039348.2:c.	N/A	Intron Variant
EFEMP1 transcript variant 3	NM_001039349.2:c.	N/A	Intron Variant
EFEMP1 transcript variant X1	XM_005264205.4:c.	N/A	Intron Variant
EFEMP1 transcript variant X2	XM_017003586.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.547	G=0.453
1000Genomes	American	Sub	694	A=0.770	G=0.230
1000Genomes	East Asian	Sub	1008	A=0.971	G=0.029
1000Genomes	Europe	Sub	1006	A=0.788	G=0.212
1000Genomes	Global	Study-wide	5008	A=0.738	G=0.262
1000Genomes	South Asian	Sub	978	A=0.680	G=0.320
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.777	G=0.223
The Genome Aggregation Database	African	Sub	8684	A=0.559	G=0.441
The Genome Aggregation Database	American	Sub	838	A=0.780	G=0.220
The Genome Aggregation Database	East Asian	Sub	1622	A=0.977	G=0.023
The Genome Aggregation Database	Europe	Sub	18466	A=0.803	G=0.196
The Genome Aggregation Database	Global	Study-wide	29912	A=0.740	G=0.259
The Genome Aggregation Database	Other	Sub	302	A=0.730	G=0.270
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.684	G=0.315
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.774	G=0.226

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

SNP ID	p-value	Traits	Study
rs2033316	7.3E-05	alcoholism (heaviness of drinking)	21529783

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 )
chr2	56114925	56115616	E067	-24915
chr2	56107650	56107926	E068	-32605
chr2	56107931	56108359	E068	-32172
chr2	56129176	56129249	E068	-11282
chr2	56129682	56129887	E068	-10644
chr2	56114629	56114755	E069	-25776
chr2	56114925	56115616	E069	-24915
chr2	56115777	56115837	E069	-24694
chr2	56115911	56116500	E069	-24031
chr2	56114629	56114755	E070	-25776
chr2	56114925	56115616	E070	-24915
chr2	56113470	56113550	E071	-26981
chr2	56114629	56114755	E071	-25776
chr2	56114925	56115616	E071	-24915
chr2	56115777	56115837	E071	-24694
chr2	56115911	56116500	E071	-24031
chr2	56114629	56114755	E073	-25776
chr2	56114925	56115616	E073	-24915
chr2	56115777	56115837	E073	-24694
chr2	56107650	56107926	E074	-32605
chr2	56107931	56108359	E074	-32172
chr2	56114629	56114755	E074	-25776
chr2	56114925	56115616	E074	-24915
chr2	56115777	56115837	E074	-24694
chr2	56115911	56116500	E074	-24031
chr2	56145938	56146295	E074	5407

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	56149639	56150112	E067	9108
chr2	56150127	56151233	E067	9596
chr2	56151264	56151325	E067	10733
chr2	56149097	56149157	E068	8566
chr2	56149247	56149445	E068	8716
chr2	56149447	56149581	E068	8916
chr2	56149639	56150112	E068	9108
chr2	56150127	56151233	E068	9596
chr2	56151264	56151325	E068	10733
chr2	56151453	56151761	E068	10922
chr2	56149247	56149445	E069	8716
chr2	56149447	56149581	E069	8916
chr2	56149639	56150112	E069	9108
chr2	56150127	56151233	E069	9596
chr2	56151264	56151325	E069	10733
chr2	56150127	56151233	E070	9596
chr2	56151264	56151325	E070	10733
chr2	56149247	56149445	E071	8716
chr2	56149447	56149581	E071	8916
chr2	56149639	56150112	E071	9108
chr2	56150127	56151233	E071	9596
chr2	56151264	56151325	E071	10733
chr2	56149247	56149445	E072	8716
chr2	56149447	56149581	E072	8916
chr2	56149639	56150112	E072	9108
chr2	56150127	56151233	E072	9596
chr2	56151264	56151325	E072	10733
chr2	56149097	56149157	E073	8566
chr2	56149247	56149445	E073	8716
chr2	56149447	56149581	E073	8916
chr2	56149639	56150112	E073	9108
chr2	56150127	56151233	E073	9596
chr2	56151264	56151325	E073	10733
chr2	56149247	56149445	E074	8716
chr2	56149447	56149581	E074	8916
chr2	56149639	56150112	E074	9108
chr2	56150127	56151233	E074	9596
chr2	56151264	56151325	E074	10733
chr2	56151453	56151761	E074	10922
chr2	56149639	56150112	E082	9108
chr2	56150127	56151233	E082	9596
chr2	56151264	56151325	E082	10733