rs2281223

Homo sapiens
G>A
SLC9A8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0414 (12410/29908,GnomAD)
A=0482 (14047/29118,TOPMED)
A=0353 (1770/5008,1000G)
A=0406 (1563/3854,ALSPAC)
A=0401 (1488/3708,TWINSUK)
chr20:49867704 (GRCh38.p7) (20q13.13)
AD
GWASdb2
1   publication(s)
See rs on genome
379 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.49867704G>A
GRCh37.p13 chr 20NC_000020.10:g.48484241G>A

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 X11XM_011528743.2:c.N/AIntron Variant
SLC9A8 transcript variant X13XM_011528744.2: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 X14XM_011528745.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.433A=0.567
1000GenomesAmericanSub694G=0.670A=0.330
1000GenomesEast AsianSub1008G=0.843A=0.157
1000GenomesEuropeSub1006G=0.576A=0.424
1000GenomesGlobalStudy-wide5008G=0.647A=0.353
1000GenomesSouth AsianSub978G=0.790A=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.594A=0.406
The Genome Aggregation DatabaseAfricanSub8700G=0.439A=0.561
The Genome Aggregation DatabaseAmericanSub836G=0.690A=0.310
The Genome Aggregation DatabaseEast AsianSub1614G=0.836A=0.164
The Genome Aggregation DatabaseEuropeSub18456G=0.626A=0.373
The Genome Aggregation DatabaseGlobalStudy-wide29908G=0.585A=0.414
The Genome Aggregation DatabaseOtherSub302G=0.600A=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.517A=0.482
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.599A=0.401
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
rs22812230.00022alcohol dependence20201924

eQTL of rs2281223 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr20:48484241SLC9A8ENSG00000197818.7G>A2.4780e-1154991Cerebellum
Chr20:48484241SLC9A8ENSG00000197818.7G>A1.9733e-854991Cerebellar_Hemisphere

meQTL of rs2281223 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 )
chr204846682148467353E067-16888
chr204846738048467443E067-16798
chr204846745048467740E067-16501
chr204846775548468209E067-16032
chr204846823348468545E067-15696
chr204846860648468760E067-15481
chr204846888748468988E067-15253
chr204846919348469318E067-14923
chr204848484048484954E067599
chr204848508848485254E067847
chr204850330448503454E06719063
chr204850349348505502E06719252
chr204850557648505698E06721335
chr204850571948505787E06721478
chr204850590648506188E06721665
chr204850695848508069E06722717
chr204850815448508481E06723913
chr204850859848508648E06724357
chr204850866148508731E06724420
chr204850874548508795E06724504
chr204850881048509120E06724569
chr204850918048509422E06724939
chr204850949548509844E06725254
chr204851003748510103E06725796
chr204851014148510188E06725900
chr204851020448510285E06725963
chr204851031648510557E06726075
chr204851064748510687E06726406
chr204851069548510777E06726454
chr204851080548510980E06726564
chr204851617948516300E06731938
chr204851633548516386E06732094
chr204851642148516535E06732180
chr204851654348516781E06732302
chr204852463448524687E06740393
chr204852480148524865E06740560
chr204852489648524936E06740655
chr204852494648525033E06740705
chr204852506348525134E06740822
chr204852533448525374E06741093
chr204852555348525603E06741312
chr204852720548527341E06742964
chr204852739448527456E06743153
chr204852763448527685E06743393
chr204852780348527879E06743562
chr204852831848528564E06744077
chr204853292848533543E06748687
chr204846682148467353E068-16888
chr204846738048467443E068-16798
chr204846745048467740E068-16501
chr204846775548468209E068-16032
chr204846823348468545E068-15696
chr204846860648468760E068-15481
chr204846888748468988E068-15253
chr204846919348469318E068-14923
chr204847021148470679E068-13562
chr204847075948471100E068-13141
chr204847110448471390E068-12851
chr204848484048484954E068599
chr204848508848485254E068847
chr204848564548485705E0681404
chr204849443748494644E06810196
chr204850349348505502E06819252
chr204850557648505698E06821335
chr204850571948505787E06821478
chr204850590648506188E06821665
chr204850695848508069E06822717
chr204850815448508481E06823913
chr204850859848508648E06824357
chr204850866148508731E06824420
chr204850874548508795E06824504
chr204850881048509120E06824569
chr204850918048509422E06824939
chr204850949548509844E06825254
chr204851617948516300E06831938
chr204851633548516386E06832094
chr204851642148516535E06832180
chr204851654348516781E06832302
chr204851752448517646E06833283
chr204851770748517788E06833466
chr204851779848517891E06833557
chr204851797948518056E06833738
chr204851810548518602E06833864
chr204852390648523965E06839665
chr204852398948524029E06839748
chr204852434248524459E06840101
chr204852451048524581E06840269
chr204852463448524687E06840393
chr204852480148524865E06840560
chr204852489648524936E06840655
chr204852494648525033E06840705
chr204852506348525134E06840822
chr204852533448525374E06841093
chr204852555348525603E06841312
chr204852763448527685E06843393
chr204852780348527879E06843562
chr204852831848528564E06844077
chr204846738048467443E069-16798
chr204846745048467740E069-16501
chr204846775548468209E069-16032
chr204846823348468545E069-15696
chr204846860648468760E069-15481
chr204846888748468988E069-15253
chr204846919348469318E069-14923
chr204849395848494358E0699717
chr204850330448503454E06919063
chr204850349348505502E06919252
chr204850557648505698E06921335
chr204850571948505787E06921478
chr204850590648506188E06921665
chr204850618948506325E06921948
chr204850646748506782E06922226
chr204850681848506898E06922577
chr204850695848508069E06922717
chr204850815448508481E06923913
chr204850859848508648E06924357
chr204850866148508731E06924420
chr204850874548508795E06924504
chr204850881048509120E06924569
chr204850918048509422E06924939
chr204850949548509844E06925254
chr204851003748510103E06925796
chr204851014148510188E06925900
chr204851020448510285E06925963
chr204851031648510557E06926075
chr204851064748510687E06926406
chr204851069548510777E06926454
chr204851617948516300E06931938
chr204851633548516386E06932094
chr204852434248524459E06940101
chr204852451048524581E06940269
chr204852463448524687E06940393
chr204852480148524865E06940560
chr204852489648524936E06940655
chr204852494648525033E06940705
chr204852506348525134E06940822
chr204852533448525374E06941093
chr204852555348525603E06941312
chr204852720548527341E06942964
chr204852739448527456E06943153
chr204852763448527685E06943393
chr204853292848533543E06948687
chr204850695848508069E07022717
chr204853045348530538E07046212
chr204844694548446995E071-37246
chr204844883048449150E071-35091
chr204846775548468209E071-16032
chr204846823348468545E071-15696
chr204846860648468760E071-15481
chr204846888748468988E071-15253
chr204846919348469318E071-14923
chr204850278748502955E07118546
chr204850299048503040E07118749
chr204850309948503239E07118858
chr204850330448503454E07119063
chr204850349348505502E07119252
chr204850557648505698E07121335
chr204850571948505787E07121478
chr204850590648506188E07121665
chr204850618948506325E07121948
chr204850646748506782E07122226
chr204850681848506898E07122577
chr204850695848508069E07122717
chr204850815448508481E07123913
chr204850859848508648E07124357
chr204850866148508731E07124420
chr204850874548508795E07124504
chr204850881048509120E07124569
chr204850918048509422E07124939
chr204850949548509844E07125254
chr204851003748510103E07125796
chr204851014148510188E07125900
chr204851020448510285E07125963
chr204851031648510557E07126075
chr204851064748510687E07126406
chr204851069548510777E07126454
chr204851080548510980E07126564
chr204852326948523356E07139028
chr204852339848523448E07139157
chr204852345648523560E07139215
chr204852390648523965E07139665
chr204852398948524029E07139748
chr204852434248524459E07140101
chr204852451048524581E07140269
chr204852463448524687E07140393
chr204852480148524865E07140560
chr204852489648524936E07140655
chr204852494648525033E07140705
chr204852506348525134E07140822
chr204852533448525374E07141093
chr204852555348525603E07141312
chr204852763448527685E07143393
chr204852780348527879E07143562
chr204852831848528564E07144077
chr204844883048449150E072-35091
chr204846682148467353E072-16888
chr204846738048467443E072-16798
chr204846745048467740E072-16501
chr204846775548468209E072-16032
chr204846823348468545E072-15696
chr204846860648468760E072-15481
chr204846888748468988E072-15253
chr204846919348469318E072-14923
chr204850299048503040E07218749
chr204850309948503239E07218858
chr204850330448503454E07219063
chr204850349348505502E07219252
chr204850557648505698E07221335
chr204850571948505787E07221478
chr204850590648506188E07221665
chr204850618948506325E07221948
chr204850646748506782E07222226
chr204850681848506898E07222577
chr204850695848508069E07222717
chr204850815448508481E07223913
chr204850859848508648E07224357
chr204850866148508731E07224420
chr204850874548508795E07224504
chr204850881048509120E07224569
chr204850918048509422E07224939
chr204850949548509844E07225254
chr204851003748510103E07225796
chr204851014148510188E07225900
chr204851020448510285E07225963
chr204851031648510557E07226075
chr204851617948516300E07231938
chr204851633548516386E07232094
chr204851642148516535E07232180
chr204851654348516781E07232302
chr204851752448517646E07233283
chr204851770748517788E07233466
chr204851779848517891E07233557
chr204851797948518056E07233738
chr204851810548518602E07233864
chr204852390648523965E07239665
chr204852398948524029E07239748
chr204852434248524459E07240101
chr204852451048524581E07240269
chr204852463448524687E07240393
chr204852480148524865E07240560
chr204852489648524936E07240655
chr204852494648525033E07240705
chr204852506348525134E07240822
chr204852533448525374E07241093
chr204852555348525603E07241312
chr204852720548527341E07242964
chr204852739448527456E07243153
chr204852763448527685E07243393
chr204852780348527879E07243562
chr204852831848528564E07244077
chr204852898748529365E07244746
chr204853292848533543E07248687
chr204853365048533715E07249409
chr204853382348533996E07249582
chr204844836748448773E073-35468
chr204846745048467740E073-16501
chr204846775548468209E073-16032
chr204846823348468545E073-15696
chr204846860648468760E073-15481
chr204848414448484247E0730
chr204848447048484642E073229
chr204848484048484954E073599
chr204848508848485254E073847
chr204850278748502955E07318546
chr204850299048503040E07318749
chr204850309948503239E07318858
chr204850330448503454E07319063
chr204850349348505502E07319252
chr204850557648505698E07321335
chr204850571948505787E07321478
chr204850590648506188E07321665
chr204850618948506325E07321948
chr204850646748506782E07322226
chr204850681848506898E07322577
chr204850695848508069E07322717
chr204850815448508481E07323913
chr204850859848508648E07324357
chr204850866148508731E07324420
chr204850874548508795E07324504
chr204850881048509120E07324569
chr204850918048509422E07324939
chr204850949548509844E07325254
chr204851003748510103E07325796
chr204851014148510188E07325900
chr204851020448510285E07325963
chr204851080548510980E07326564
chr204851617948516300E07331938
chr204851633548516386E07332094
chr204851642148516535E07332180
chr204851654348516781E07332302
chr204852434248524459E07340101
chr204852451048524581E07340269
chr204852463448524687E07340393
chr204852480148524865E07340560
chr204852489648524936E07340655
chr204852494648525033E07340705
chr204852506348525134E07340822
chr204852533448525374E07341093
chr204852555348525603E07341312
chr204852585148527079E07341610
chr204852763448527685E07343393
chr204852780348527879E07343562
chr204852831848528564E07344077
chr204852898748529365E07344746
chr204844657048446620E074-37621
chr204844679648446878E074-37363
chr204844694548446995E074-37246
chr204846682148467353E074-16888
chr204846738048467443E074-16798
chr204846745048467740E074-16501
chr204846775548468209E074-16032
chr204846823348468545E074-15696
chr204846860648468760E074-15481
chr204846888748468988E074-15253
chr204846919348469318E074-14923
chr204848484048484954E074599
chr204848508848485254E074847
chr204850349348505502E07419252
chr204850557648505698E07421335
chr204850571948505787E07421478
chr204850590648506188E07421665
chr204850618948506325E07421948
chr204850646748506782E07422226
chr204850681848506898E07422577
chr204850695848508069E07422717
chr204850815448508481E07423913
chr204850859848508648E07424357
chr204850866148508731E07424420
chr204850874548508795E07424504
chr204850881048509120E07424569
chr204851003748510103E07425796
chr204851014148510188E07425900
chr204851020448510285E07425963
chr204851031648510557E07426075
chr204851064748510687E07426406
chr204851069548510777E07426454
chr204851080548510980E07426564
chr204851143648511519E07427195
chr204851617948516300E07431938
chr204851633548516386E07432094
chr204851642148516535E07432180
chr204851654348516781E07432302
chr204852398948524029E07439748
chr204852434248524459E07440101
chr204852451048524581E07440269
chr204852463448524687E07440393
chr204852480148524865E07440560
chr204852489648524936E07440655
chr204852494648525033E07440705
chr204852506348525134E07440822
chr204852533448525374E07441093
chr204852555348525603E07441312
chr204852720548527341E07442964
chr204852739448527456E07443153
chr204852763448527685E07443393
chr204852780348527879E07443562
chr204852831848528564E07444077
chr204850265648502746E08118415
chr204850278748502955E08118546
chr204850299048503040E08118749
chr204850309948503239E08118858
chr204850330448503454E08119063
chr204850349348505502E08119252
chr204850557648505698E08121335
chr204850571948505787E08121478
chr204850590648506188E08121665
chr204850618948506325E08121948
chr204850646748506782E08122226
chr204850681848506898E08122577
chr204852998248530032E08145741
chr204853006848530202E08145827
chr204853026648530403E08146025
chr204853045348530538E08146212
chr204850309948503239E08218858
chr204850330448503454E08219063
chr204850349348505502E08219252
chr204850557648505698E08221335
chr204852998248530032E08245741
chr204853006848530202E08245827










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr204853078548532849E06746544
chr204853078548532849E06846544
chr204853078548532849E06946544
chr204853078548532849E07046544
chr204853078548532849E07146544
chr204853078548532849E07246544
chr204853078548532849E07346544
chr204853078548532849E07446544
chr204853078548532849E08146544
chr204853078548532849E08246544