rs11612319

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

SLC2A14 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0255 (7633/29860,GnomAD)
A=0231 (6742/29118,TOPMED)
A=0187 (937/5008,1000G)
A=0323 (1245/3854,ALSPAC)
A=0309 (1146/3708,TWINSUK)

Position: chr12:7864329 (GRCh38.p7) (12p13.31)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 6 Enhancers around

Promoter: 3 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.7864329G>A
GRCh37.p13 chr 12	NC_000012.11:g.8016925G>A

Gene: SLC2A14, solute carrier family 2 member 14(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC2A14 transcript variant 1	NM_001286233.1:c.	N/A	Intron Variant
SLC2A14 transcript variant 3	NM_001286234.1:c.	N/A	Intron Variant
SLC2A14 transcript variant 4	NM_001286235.1:c.	N/A	Intron Variant
SLC2A14 transcript variant 5	NM_001286236.1:c.	N/A	Intron Variant
SLC2A14 transcript variant 6	NM_001286237.1:c.	N/A	Intron Variant
SLC2A14 transcript variant 2	NM_153449.3:c.	N/A	Intron Variant
SLC2A14 transcript variant X8	XM_005253315.3:c.	N/A	Intron Variant
SLC2A14 transcript variant X9	XM_005253317.4:c.	N/A	Intron Variant
SLC2A14 transcript variant X5	XM_011520562.1:c.	N/A	Intron Variant
SLC2A14 transcript variant X11	XM_011520563.2:c.	N/A	Intron Variant
SLC2A14 transcript variant X12	XM_011520564.2:c.	N/A	Intron Variant
SLC2A14 transcript variant X13	XM_011520565.2:c.	N/A	Intron Variant
SLC2A14 transcript variant X1	XM_017018841.1:c.	N/A	Intron Variant
SLC2A14 transcript variant X2	XM_017018842.1:c.	N/A	Intron Variant
SLC2A14 transcript variant X3	XM_017018843.1:c.	N/A	Intron Variant
SLC2A14 transcript variant X3	XM_017018844.1:c.	N/A	Intron Variant
SLC2A14 transcript variant X5	XM_017018845.1:c.	N/A	Intron Variant
SLC2A14 transcript variant X6	XM_017018846.1:c.	N/A	Intron Variant
SLC2A14 transcript variant X9	XM_017018847.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.890	A=0.110
1000Genomes	American	Sub	694	G=0.830	A=0.170
1000Genomes	East Asian	Sub	1008	G=0.931	A=0.069
1000Genomes	Europe	Sub	1006	G=0.666	A=0.334
1000Genomes	Global	Study-wide	5008	G=0.813	A=0.187
1000Genomes	South Asian	Sub	978	G=0.730	A=0.270
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.677	A=0.323
The Genome Aggregation Database	African	Sub	8706	G=0.856	A=0.144
The Genome Aggregation Database	American	Sub	832	G=0.820	A=0.180
The Genome Aggregation Database	East Asian	Sub	1616	G=0.942	A=0.058
The Genome Aggregation Database	Europe	Sub	18404	G=0.672	A=0.327
The Genome Aggregation Database	Global	Study-wide	29860	G=0.744	A=0.255
The Genome Aggregation Database	Other	Sub	302	G=0.610	A=0.390
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.768	A=0.231
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.691	A=0.309

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

P-Value

SNP ID	p-value	Traits	Study
rs11612319	0.000044	Alcohol dependence (early age of onset)	20201924
rs11612319	0.0000441	alcoholism	pha002893
rs11612319	0.0000655	alcoholism	pha002892
rs11612319	0.000066	alcohol dependence	20201924

eQTL of rs11612319 in Brain tissues (GTEx Analysis Release V7)

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

meQTL of rs11612319 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr12	8057636	8058054	E070	40711
chr12	7991285	7991345	E081	-25580
chr12	7992293	7992396	E081	-24529
chr12	7992411	7992517	E081	-24408
chr12	7992629	7992686	E081	-24239
chr12	7992808	7992858	E081	-24067

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	8025080	8025343	E068	8155
chr12	8025366	8025563	E068	8441
chr12	8025366	8025563	E071	8441