rs8118160

Homo sapiens
A>G
SLC9A8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0461 (13791/29878,GnomAD)
A==0371 (10830/29118,TOPMED)
G=0488 (2443/5008,1000G)
G=0495 (1907/3854,ALSPAC)
G=0495 (1834/3708,TWINSUK)
chr20:49818099 (GRCh38.p7) (20q13.13)
AD
GWASdb2
1   publication(s)
See rs on genome
85 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.49818099A>G
GRCh37.p13 chr 20NC_000020.10:g.48434636A>G

Gene: SLC9A8, solute carrier family 9 member A8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC9A8 transcript variant 1NM_001260491.1:c.N/AIntron Variant
SLC9A8 transcript variant 2NM_015266.2:c.N/AIntron Variant
SLC9A8 transcript variant 3NR_048537.1:n.N/AIntron Variant
SLC9A8 transcript variant 4NR_048538.1:n.N/AIntron Variant
SLC9A8 transcript variant 5NR_048539.1:n.N/AIntron Variant
SLC9A8 transcript variant 6NR_048540.1:n.N/AIntron Variant
SLC9A8 transcript variant X2XM_006723756.1:c.N/AIntron Variant
SLC9A8 transcript variant X1XM_011528736.1:c.N/AIntron Variant
SLC9A8 transcript variant X3XM_011528737.1:c.N/AIntron Variant
SLC9A8 transcript variant X4XM_011528738.1:c.N/AIntron Variant
SLC9A8 transcript variant X5XM_011528739.1:c.N/AIntron Variant
SLC9A8 transcript variant X7XM_011528740.1:c.N/AIntron Variant
SLC9A8 transcript variant X8XM_011528741.1:c.N/AIntron Variant
SLC9A8 transcript variant X10XM_011528742.1:c.N/AIntron Variant
SLC9A8 transcript variant X14XM_011528745.1:c.N/AIntron Variant
SLC9A8 transcript variant X6XM_017027754.1:c.N/AIntron Variant
SLC9A8 transcript variant X9XM_017027755.1:c.N/AIntron Variant
SLC9A8 transcript variant X12XM_017027756.1:c.N/AIntron Variant
SLC9A8 transcript variant X11XM_011528743.2:c.N/AGenic Upstream Transcript Variant
SLC9A8 transcript variant X13XM_011528744.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.186G=0.814
1000GenomesAmericanSub694A=0.570G=0.430
1000GenomesEast AsianSub1008A=0.748G=0.252
1000GenomesEuropeSub1006A=0.482G=0.518
1000GenomesGlobalStudy-wide5008A=0.512G=0.488
1000GenomesSouth AsianSub978A=0.700G=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.505G=0.495
The Genome Aggregation DatabaseAfricanSub8710A=0.230G=0.770
The Genome Aggregation DatabaseAmericanSub834A=0.600G=0.400
The Genome Aggregation DatabaseEast AsianSub1604A=0.772G=0.228
The Genome Aggregation DatabaseEuropeSub18428A=0.537G=0.462
The Genome Aggregation DatabaseGlobalStudy-wide29878A=0.461G=0.538
The Genome Aggregation DatabaseOtherSub302A=0.460G=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.371G=0.628
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.505G=0.495
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
rs81181600.0002alcohol dependence20201924

eQTL of rs8118160 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr20:48434636SLC9A8ENSG00000197818.7A>G1.9733e-85386Cerebellar_Hemisphere

meQTL of rs8118160 in Fetal Brain

Probe ID Position Gene beta p-value
cg14228788chr20:48598378SNAI10.03691987314250781.6218e-10

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 )
chr204838866548388715E067-45921
chr204838873848389364E067-45272
chr204846682148467353E06732185
chr204846738048467443E06732744
chr204846745048467740E06732814
chr204846775548468209E06733119
chr204846823348468545E06733597
chr204846860648468760E06733970
chr204846888748468988E06734251
chr204846919348469318E06734557
chr204838873848389364E068-45272
chr204839259348393196E068-41440
chr204846682148467353E06832185
chr204846738048467443E06832744
chr204846745048467740E06832814
chr204846775548468209E06833119
chr204846823348468545E06833597
chr204846860648468760E06833970
chr204846888748468988E06834251
chr204846919348469318E06834557
chr204847021148470679E06835575
chr204847075948471100E06836123
chr204847110448471390E06836468
chr204838866548388715E069-45921
chr204838873848389364E069-45272
chr204846738048467443E06932744
chr204846745048467740E06932814
chr204846775548468209E06933119
chr204846823348468545E06933597
chr204846860648468760E06933970
chr204846888748468988E06934251
chr204846919348469318E06934557
chr204838825848388316E071-46320
chr204838832448388436E071-46200
chr204839259348393196E071-41440
chr204844694548446995E07112309
chr204844883048449150E07114194
chr204846775548468209E07133119
chr204846823348468545E07133597
chr204846860648468760E07133970
chr204846888748468988E07134251
chr204846919348469318E07134557
chr204838866548388715E072-45921
chr204838873848389364E072-45272
chr204839235548392501E072-42135
chr204839259348393196E072-41440
chr204844883048449150E07214194
chr204846682148467353E07232185
chr204846738048467443E07232744
chr204846745048467740E07232814
chr204846775548468209E07233119
chr204846823348468545E07233597
chr204846860648468760E07233970
chr204846888748468988E07234251
chr204846919348469318E07234557
chr204838873848389364E073-45272
chr204839259348393196E073-41440
chr204844836748448773E07313731
chr204846745048467740E07332814
chr204846775548468209E07333119
chr204846823348468545E07333597
chr204846860648468760E07333970
chr204848414448484247E07349508
chr204838832448388436E074-46200
chr204838866548388715E074-45921
chr204838873848389364E074-45272
chr204839146248392333E074-42303
chr204839235548392501E074-42135
chr204839259348393196E074-41440
chr204844657048446620E07411934
chr204844679648446878E07412160
chr204844694548446995E07412309
chr204846682148467353E07432185
chr204846738048467443E07432744
chr204846745048467740E07432814
chr204846775548468209E07433119
chr204846823348468545E07433597
chr204846860648468760E07433970
chr204846888748468988E07434251
chr204846919348469318E07434557
chr204838866548388715E081-45921
chr204838873848389364E081-45272
chr204839976948399869E081-34767
chr204839994648400437E081-34199
chr204838873848389364E082-45272









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr204842821748430084E067-4552
chr204842821748430084E068-4552
chr204842821748430084E069-4552
chr204842821748430084E070-4552
chr204842821748430084E071-4552
chr204842821748430084E072-4552
chr204842821748430084E073-4552
chr204842821748430084E074-4552
chr204842821748430084E081-4552
chr204842821748430084E082-4552