SNP Detail Info-rs9636231

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105373639 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0253 (7591/29942,GnomAD)
A=0217 (6321/29118,TOPMED)
A=0212 (1062/5008,1000G)
A=0278 (1072/3854,ALSPAC)
A=0292 (1084/3708,TWINSUK)

Position: chr2:138914385 (GRCh38.p7) (2q22.1)

Phenotype: AD

Dataset:

GWASdb2 | GWASCatalog

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.138914385G>A
GRCh37.p13 chr 2	NC_000002.11:g.139671955G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105373639 transcript	XR_923370.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.907	A=0.093
1000Genomes	American	Sub	694	G=0.660	A=0.340
1000Genomes	East Asian	Sub	1008	G=0.713	A=0.287
1000Genomes	Europe	Sub	1006	G=0.740	A=0.260
1000Genomes	Global	Study-wide	5008	G=0.788	A=0.212
1000Genomes	South Asian	Sub	978	G=0.840	A=0.160
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.722	A=0.278
The Genome Aggregation Database	African	Sub	8720	G=0.882	A=0.118
The Genome Aggregation Database	American	Sub	836	G=0.680	A=0.320
The Genome Aggregation Database	East Asian	Sub	1622	G=0.749	A=0.251
The Genome Aggregation Database	Europe	Sub	18462	G=0.685	A=0.314
The Genome Aggregation Database	Global	Study-wide	29942	G=0.746	A=0.253
The Genome Aggregation Database	Other	Sub	302	G=0.720	A=0.280
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.782	A=0.217
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.708	A=0.292

PMID	Title	Author	Journal
20202923	A genome-wide association study of alcohol dependence.	Bierut LJ	Proc Natl Acad Sci U S A
21956439	Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.	Zuo L	Neuropsychopharmacology

SNP ID	p-value	Traits	Study
rs9636231	8E-06	alcohol dependence	21956439

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

rs9636231