SNP Detail Info-rs2094081

Organism: Homo sapiens

Alleles: G>A / G>C

Gene : Feature

RHBDL2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0051 (1545/29894,GnomAD)
A=0153 (764/5008,1000G)
A=0037 (141/3854,ALSPAC)
A=0032 (118/3708,TWINSUK)

Position: chr1:38927359 (GRCh38.p7) (1p34.3)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
RHBDL2 transcript variant 1	NM_001304746.1:c.	N/A	Intron Variant
RHBDL2 transcript variant 2	NM_017821.4:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.995	A=0.005
1000Genomes	American	Sub	694	G=0.870	A=0.130
1000Genomes	East Asian	Sub	1008	G=0.580	A=0.420
1000Genomes	Europe	Sub	1006	G=0.979	A=0.021
1000Genomes	Global	Study-wide	5008	G=0.847	A=0.153
1000Genomes	South Asian	Sub	978	G=0.770	A=0.230
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.963	A=0.037
The Genome Aggregation Database	African	Sub	8700	G=0.988	A=0.012
The Genome Aggregation Database	American	Sub	836	G=0.850	A=0.150
The Genome Aggregation Database	East Asian	Sub	1600	G=0.520	A=0.480
The Genome Aggregation Database	Europe	Sub	18458	G=0.970	A=0.029
The Genome Aggregation Database	Global	Study-wide	29894	G=0.948	A=0.051
The Genome Aggregation Database	Other	Sub	300	G=0.980	A=0.020
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.968	A=0.032

PMID	Title	Author	Journal
29071344	Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.	Zhou H	JAMA Psychiatry

SNP ID	p-value	Traits	Study
rs2094081	4E-07	alcohol dependence	29071344

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	25427580	25427718	E071	108
chr1	25427762	25427825	E071	290
chr1	25427866	25428530	E071	394
chr1	25424888	25424928	E074	-2544
chr1	25425421	25425471	E074	-2001
chr1	25427866	25428530	E074	394

rs2094081