SNP Detail Info-rs950614

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105372920 : 2KB Upstream Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0177 (5309/29926,GnomAD)
A=0160 (4660/29116,TOPMED)
A=0185 (928/5008,1000G)
A=0155 (599/3854,ALSPAC)
A=0165 (610/3708,TWINSUK)

Position: chr1:217191283 (GRCh38.p7) (1q41)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.217191283G>A
GRCh37.p13 chr 1	NC_000001.10:g.217364625G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105372920 transcript	XR_922600.2:n.	N/A	Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.853	A=0.147
1000Genomes	American	Sub	694	G=0.810	A=0.190
1000Genomes	East Asian	Sub	1008	G=0.739	A=0.261
1000Genomes	Europe	Sub	1006	G=0.802	A=0.198
1000Genomes	Global	Study-wide	5008	G=0.815	A=0.185
1000Genomes	South Asian	Sub	978	G=0.860	A=0.140
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.845	A=0.155
The Genome Aggregation Database	African	Sub	8714	G=0.847	A=0.153
The Genome Aggregation Database	American	Sub	838	G=0.800	A=0.200
The Genome Aggregation Database	East Asian	Sub	1606	G=0.765	A=0.235
The Genome Aggregation Database	Europe	Sub	18466	G=0.816	A=0.183
The Genome Aggregation Database	Global	Study-wide	29926	G=0.822	A=0.177
The Genome Aggregation Database	Other	Sub	302	G=0.830	A=0.170
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.840	A=0.160
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.835	A=0.165

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
rs950614	0.000925	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

rs950614