rs8099211

Homo sapiens
G>A
SLC14A2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0267 (7996/29938,GnomAD)
A=0281 (8196/29118,TOPMED)
A=0264 (1320/5008,1000G)
A=0208 (800/3854,ALSPAC)
A=0206 (764/3708,TWINSUK)
chr18:45523993 (GRCh38.p7) (18q12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.45523993G>A
GRCh37.p13 chr 18NC_000018.9:g.43103958G>A

Gene: SLC14A2, solute carrier family 14 member 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC14A2 transcript variant 2NM_001242692.1:c.N/AIntron Variant
SLC14A2 transcript variant 1NM_007163.3:c.N/AGenic Upstream Transcript Variant
SLC14A2 transcript variant X1XM_017026015.1:c.N/AIntron Variant
SLC14A2 transcript variant X2XM_017026016.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.601A=0.399
1000GenomesAmericanSub694G=0.730A=0.270
1000GenomesEast AsianSub1008G=0.891A=0.109
1000GenomesEuropeSub1006G=0.759A=0.241
1000GenomesGlobalStudy-wide5008G=0.736A=0.264
1000GenomesSouth AsianSub978G=0.740A=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.792A=0.208
The Genome Aggregation DatabaseAfricanSub8696G=0.620A=0.380
The Genome Aggregation DatabaseAmericanSub838G=0.740A=0.260
The Genome Aggregation DatabaseEast AsianSub1622G=0.919A=0.081
The Genome Aggregation DatabaseEuropeSub18480G=0.769A=0.231
The Genome Aggregation DatabaseGlobalStudy-wide29938G=0.732A=0.267
The Genome Aggregation DatabaseOtherSub302G=0.770A=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.718A=0.281
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.794A=0.206
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs80992110.000801alcohol dependence20201924

eQTL of rs8099211 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 rs8099211 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 )
chr184308351443083564E068-20394
chr184309069643090854E070-13104
chr184309671443097794E070-6164
chr184307827343078630E081-25328
chr184307877143078833E081-25125
chr184307883443078914E081-25044
chr184314482143144995E08140863
chr184314512443145215E08141166
chr184314482143144995E08240863