SNP Detail Info-rs11120170

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105372912 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0446 (13344/29884,GnomAD)
A=0438 (12776/29116,TOPMED)
A=0446 (2232/5008,1000G)
A=0400 (1543/3854,ALSPAC)
A=0417 (1547/3708,TWINSUK)

Position: chr1:213605853 (GRCh38.p7) (1q32.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 10 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.213605853G>A
GRCh37.p13 chr 1	NC_000001.10:g.213779196G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105372912 transcript variant X1	XR_001738463.1:n.	N/A	Intron Variant
LOC105372912 transcript variant X2	XR_001738464.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.527	A=0.473
1000Genomes	American	Sub	694	G=0.360	A=0.640
1000Genomes	East Asian	Sub	1008	G=0.608	A=0.392
1000Genomes	Europe	Sub	1006	G=0.627	A=0.373
1000Genomes	Global	Study-wide	5008	G=0.554	A=0.446
1000Genomes	South Asian	Sub	978	G=0.600	A=0.400
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.600	A=0.400
The Genome Aggregation Database	African	Sub	8696	G=0.539	A=0.461
The Genome Aggregation Database	American	Sub	834	G=0.360	A=0.640
The Genome Aggregation Database	East Asian	Sub	1612	G=0.586	A=0.414
The Genome Aggregation Database	Europe	Sub	18440	G=0.565	A=0.434
The Genome Aggregation Database	Global	Study-wide	29884	G=0.553	A=0.446
The Genome Aggregation Database	Other	Sub	302	G=0.570	A=0.430
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.561	A=0.438
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.583	A=0.417

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
rs11120170	0.00036	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
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	213746273	213746952	E067	-32244
chr1	213747156	213747244	E067	-31952
chr1	213746273	213746952	E068	-32244
chr1	213747156	213747244	E068	-31952
chr1	213746273	213746952	E069	-32244
chr1	213747156	213747244	E069	-31952
chr1	213746273	213746952	E070	-32244
chr1	213747156	213747244	E070	-31952
chr1	213746273	213746952	E074	-32244
chr1	213747156	213747244	E074	-31952

rs11120170