SNP Detail Info-rs2036902

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

EMB : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0392 (11701/29844,GnomAD)
G=0422 (12304/29118,TOPMED)
G=0411 (2060/5008,1000G)
G=0364 (1402/3854,ALSPAC)
G=0363 (1347/3708,TWINSUK)

Position: chr5:50401098 (GRCh38.p7) (5q11.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 11 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.50401098A>G
GRCh37.p13 chr 5	NC_000005.9:g.49696932A>G

Molecule type	Change	Amino acid[Codon]	SO Term
EMB transcript	NM_198449.2:c.	N/A	Intron Variant
EMB transcript variant X1	XM_011543146.2:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.490	G=0.510
1000Genomes	American	Sub	694	A=0.670	G=0.330
1000Genomes	East Asian	Sub	1008	A=0.528	G=0.472
1000Genomes	Europe	Sub	1006	A=0.669	G=0.331
1000Genomes	Global	Study-wide	5008	A=0.589	G=0.411
1000Genomes	South Asian	Sub	978	A=0.640	G=0.360
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.636	G=0.364
The Genome Aggregation Database	African	Sub	8706	A=0.479	G=0.521
The Genome Aggregation Database	American	Sub	834	A=0.660	G=0.340
The Genome Aggregation Database	East Asian	Sub	1560	A=0.485	G=0.515
The Genome Aggregation Database	Europe	Sub	18442	A=0.675	G=0.324
The Genome Aggregation Database	Global	Study-wide	29844	A=0.607	G=0.392
The Genome Aggregation Database	Other	Sub	302	A=0.680	G=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.577	G=0.422
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.637	G=0.363

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs2036902	0.0000988	alcoholism	pha002891
rs2036902	0.0000988	alcohol dependence	20201924

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
cg15950743	chr5:49708521	EMB	-0.0873860775418537	2.8261e-34

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr5	49736390	49737792	E067	39458
chr5	49736390	49737792	E068	39458
chr5	49736390	49737792	E069	39458
chr5	49735853	49736086	E071	38921
chr5	49736121	49736295	E071	39189
chr5	49736390	49737792	E071	39458
chr5	49735853	49736086	E072	38921
chr5	49736121	49736295	E072	39189
chr5	49736390	49737792	E072	39458
chr5	49736390	49737792	E073	39458
chr5	49736390	49737792	E082	39458

rs2036902