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

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