SNP Detail Info-rs2045518

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

SLC35F3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0289 (8671/29942,GnomAD)
G=0263 (7679/29116,TOPMED)
G=0419 (2097/5008,1000G)
G=0252 (972/3854,ALSPAC)
G=0251 (930/3708,TWINSUK)

Position: chr1:234094642 (GRCh38.p7) (1q42.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 31 Enhancers around

Promoter: 5 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.234094642A>G
GRCh37.p13 chr 1	NC_000001.10:g.234230388A>G

Molecule type	Change	Amino acid[Codon]	SO Term
SLC35F3 transcript variant 1	NM_173508.3:c.	N/A	Intron Variant
SLC35F3 transcript variant 2	NM_001300845.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.812	G=0.188
1000Genomes	American	Sub	694	A=0.590	G=0.410
1000Genomes	East Asian	Sub	1008	A=0.157	G=0.843
1000Genomes	Europe	Sub	1006	A=0.723	G=0.277
1000Genomes	Global	Study-wide	5008	A=0.581	G=0.419
1000Genomes	South Asian	Sub	978	A=0.560	G=0.440
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.748	G=0.252
The Genome Aggregation Database	African	Sub	8708	A=0.802	G=0.198
The Genome Aggregation Database	American	Sub	836	A=0.580	G=0.420
The Genome Aggregation Database	East Asian	Sub	1616	A=0.168	G=0.832
The Genome Aggregation Database	Europe	Sub	18480	A=0.721	G=0.278
The Genome Aggregation Database	Global	Study-wide	29942	A=0.710	G=0.289
The Genome Aggregation Database	Other	Sub	302	A=0.660	G=0.340
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.736	G=0.263
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.749	G=0.251

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs2045518	0.00092	alcohol dependence	21314694

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	234228850	234229258	E067	-1130
chr1	234229390	234230250	E067	-138
chr1	234251138	234251205	E067	20750
chr1	234228850	234229258	E068	-1130
chr1	234229390	234230250	E068	-138
chr1	234255644	234255739	E068	25256
chr1	234261103	234261379	E068	30715
chr1	234229390	234230250	E069	-138
chr1	234218447	234218507	E070	-11881
chr1	234222313	234222482	E070	-7906
chr1	234229390	234230250	E070	-138
chr1	234228850	234229258	E071	-1130
chr1	234229390	234230250	E071	-138
chr1	234251138	234251205	E071	20750
chr1	234251138	234251205	E072	20750
chr1	234251138	234251205	E073	20750
chr1	234229390	234230250	E074	-138
chr1	234203831	234204044	E081	-26344
chr1	234228850	234229258	E081	-1130
chr1	234229390	234230250	E081	-138
chr1	234230702	234230778	E081	314
chr1	234232015	234232239	E081	1627
chr1	234232330	234232431	E081	1942
chr1	234237295	234237396	E081	6907
chr1	234237925	234237975	E081	7537
chr1	234238847	234238897	E081	8459
chr1	234238937	234239245	E081	8549
chr1	234203831	234204044	E082	-26344
chr1	234237925	234237975	E082	7537
chr1	234238847	234238897	E082	8459
chr1	234238937	234239245	E082	8549

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	234250445	234250680	E067	20057
chr1	234250445	234250680	E069	20057
chr1	234250445	234250680	E071	20057
chr1	234250445	234250680	E072	20057
chr1	234250445	234250680	E073	20057

rs2045518