rs3884613

Homo sapiens
T>C
ENOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0216 (6472/29898,GnomAD)
C=0218 (6351/29116,TOPMED)
C=0133 (665/5008,1000G)
C=0283 (1089/3854,ALSPAC)
C=0284 (1054/3708,TWINSUK)
chr13:43511809 (GRCh38.p7) (13q14.11)
AD
GWASdb2
1   publication(s)
See rs on genome
256 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.43511809T>C
GRCh37.p13 chr 13NC_000013.10:g.44085945T>C

Gene: ENOX1, ecto-NOX disulfide-thiol exchanger 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ENOX1 transcript variant 2NM_001127615.1:c.N/AIntron Variant
ENOX1 transcript variant 3NM_001242863.1:c.N/AIntron Variant
ENOX1 transcript variant 1NM_017993.3:c.N/AIntron Variant
ENOX1 transcript variant X1XM_005266439.3:c.N/AIntron Variant
ENOX1 transcript variant X2XM_011535126.2:c.N/AIntron Variant
ENOX1 transcript variant X5XM_011535127.2:c.N/AIntron Variant
ENOX1 transcript variant X4XM_011535128.2:c.N/AIntron Variant
ENOX1 transcript variant X8XM_011535132.2:c.N/AIntron Variant
ENOX1 transcript variant X3XM_017020637.1:c.N/AIntron Variant
ENOX1 transcript variant X6XM_017020638.1:c.N/AIntron Variant
ENOX1 transcript variant X7XM_017020639.1:c.N/AIntron Variant
ENOX1 transcript variant X9XM_017020640.1:c.N/AIntron Variant
ENOX1 transcript variant X10XM_017020641.1:c.N/AIntron Variant
ENOX1 transcript variant X12XM_017020642.1:c.N/AIntron Variant
ENOX1 transcript variant X11XR_001749592.1:n.N/AIntron Variant
ENOX1 transcript variant X13XR_001749593.1:n.N/AIntron Variant
ENOX1 transcript variant X12XR_001749594.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.871C=0.129
1000GenomesAmericanSub694T=0.820C=0.180
1000GenomesEast AsianSub1008T=0.974C=0.026
1000GenomesEuropeSub1006T=0.729C=0.271
1000GenomesGlobalStudy-wide5008T=0.867C=0.133
1000GenomesSouth AsianSub978T=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.717C=0.283
The Genome Aggregation DatabaseAfricanSub8708T=0.847C=0.153
The Genome Aggregation DatabaseAmericanSub838T=0.830C=0.170
The Genome Aggregation DatabaseEast AsianSub1592T=0.976C=0.024
The Genome Aggregation DatabaseEuropeSub18458T=0.736C=0.264
The Genome Aggregation DatabaseGlobalStudy-wide29898T=0.783C=0.216
The Genome Aggregation DatabaseOtherSub302T=0.690C=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.781C=0.218
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.716C=0.284
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
rs38846130.000795alcohol dependence20201924

eQTL of rs3884613 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 rs3884613 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 )
chr134404723344047479E067-38466
chr134404749344047659E067-38286
chr134404771644048023E067-37922
chr134405630744056395E067-29550
chr134405645944056581E067-29364
chr134405689244056998E067-28947
chr134405704744057148E067-28797
chr134408626744086342E067322
chr134408639244086668E067447
chr134408678544086849E067840
chr134408905844089286E0673113
chr134408930844089385E0673363
chr134408944044089494E0673495
chr134408953544089736E0673590
chr134408975644090114E0673811
chr134409016644090226E0674221
chr134409031144091133E0674366
chr134411105044111750E06725105
chr134411185044112280E06725905
chr134412034244120777E06734397
chr134412085044120929E06734905
chr134412099044121440E06735045
chr134412154644121804E06735601
chr134412208244122258E06736137
chr134412233944122383E06736394
chr134412750644127613E06741561
chr134412766044127829E06741715
chr134412994044130002E06743995
chr134413215544132766E06746210
chr134413281744133000E06746872
chr134413301744133460E06747072
chr134413360044133654E06747655
chr134413376544133840E06747820
chr134413391344134046E06747968
chr134404639944046509E068-39436
chr134404651444046787E068-39158
chr134404682544047017E068-38928
chr134404705444047118E068-38827
chr134405704744057148E068-28797
chr134405737344057437E068-28508
chr134405811944058193E068-27752
chr134405823644058325E068-27620
chr134405851644058587E068-27358
chr134405873544058832E068-27113
chr134405906044059276E068-26669
chr134405934944059417E068-26528
chr134408562544085968E0680
chr134412034244120777E06834397
chr134412085044120929E06834905
chr134412099044121440E06835045
chr134412994044130002E06843995
chr134413206144132111E06846116
chr134413215544132766E06846210
chr134413281744133000E06846872
chr134413301744133460E06847072
chr134404639944046509E069-39436
chr134404651444046787E069-39158
chr134404682544047017E069-38928
chr134404705444047118E069-38827
chr134404723344047479E069-38466
chr134404749344047659E069-38286
chr134404804444048132E069-37813
chr134404822844048557E069-37388
chr134404856344048613E069-37332
chr134404868944048871E069-37074
chr134404898644049317E069-36628
chr134405645944056581E069-29364
chr134405689244056998E069-28947
chr134405704744057148E069-28797
chr134405737344057437E069-28508
chr134405851644058587E069-27358
chr134405873544058832E069-27113
chr134405906044059276E069-26669
chr134405934944059417E069-26528
chr134406769444067897E069-18048
chr134406819144068241E069-17704
chr134408626744086342E069322
chr134408639244086668E069447
chr134408678544086849E069840
chr134408975644090114E0693811
chr134409016644090226E0694221
chr134409031144091133E0694366
chr134411952644119647E06933581
chr134411968144119914E06933736
chr134411995744120315E06934012
chr134412034244120777E06934397
chr134412085044120929E06934905
chr134412099044121440E06935045
chr134412154644121804E06935601
chr134412208244122258E06936137
chr134412233944122383E06936394
chr134412750644127613E06941561
chr134412766044127829E06941715
chr134412994044130002E06943995
chr134413148944131633E06945544
chr134413168344131743E06945738
chr134413206144132111E06946116
chr134413215544132766E06946210
chr134413281744133000E06946872
chr134413301744133460E06947072
chr134404749344047659E070-38286
chr134404771644048023E070-37922
chr134404804444048132E070-37813
chr134413094244131295E07044997
chr134413140644131459E07045461
chr134413148944131633E07045544
chr134413168344131743E07045738
chr134413360044133654E07047655
chr134413376544133840E07047820
chr134404639944046509E071-39436
chr134404705444047118E071-38827
chr134404723344047479E071-38466
chr134404749344047659E071-38286
chr134404771644048023E071-37922
chr134405689244056998E071-28947
chr134405704744057148E071-28797
chr134405737344057437E071-28508
chr134405811944058193E071-27752
chr134405823644058325E071-27620
chr134405851644058587E071-27358
chr134405873544058832E071-27113
chr134405906044059276E071-26669
chr134405934944059417E071-26528
chr134406317044063857E071-22088
chr134408562544085968E0710
chr134408817244088303E0712227
chr134408975644090114E0713811
chr134409016644090226E0714221
chr134409031144091133E0714366
chr134411105044111750E07125105
chr134411185044112280E07125905
chr134411995744120315E07134012
chr134412034244120777E07134397
chr134412085044120929E07134905
chr134412099044121440E07135045
chr134412154644121804E07135601
chr134412233944122383E07136394
chr134412284244122892E07136897
chr134412994044130002E07143995
chr134413215544132766E07146210
chr134413281744133000E07146872
chr134413301744133460E07147072
chr134404682544047017E072-38928
chr134404705444047118E072-38827
chr134404723344047479E072-38466
chr134404749344047659E072-38286
chr134404771644048023E072-37922
chr134404804444048132E072-37813
chr134404822844048557E072-37388
chr134405645944056581E072-29364
chr134405689244056998E072-28947
chr134405704744057148E072-28797
chr134405737344057437E072-28508
chr134405906044059276E072-26669
chr134405934944059417E072-26528
chr134406317044063857E072-22088
chr134408639244086668E072447
chr134408678544086849E072840
chr134408817244088303E0722227
chr134408833544088886E0722390
chr134408975644090114E0723811
chr134409016644090226E0724221
chr134411855844118818E07232613
chr134411882344119130E07232878
chr134411918244119503E07233237
chr134411952644119647E07233581
chr134411968144119914E07233736
chr134411995744120315E07234012
chr134412034244120777E07234397
chr134412085044120929E07234905
chr134412099044121440E07235045
chr134412154644121804E07235601
chr134412208244122258E07236137
chr134412233944122383E07236394
chr134412284244122892E07236897
chr134412994044130002E07243995
chr134413206144132111E07246116
chr134413215544132766E07246210
chr134413281744133000E07246872
chr134413301744133460E07247072
chr134413360044133654E07247655
chr134413376544133840E07247820
chr134405645944056581E073-29364
chr134405906044059276E073-26669
chr134406317044063857E073-22088
chr134408639244086668E073447
chr134408678544086849E073840
chr134409016644090226E0734221
chr134409031144091133E0734366
chr134412034244120777E07334397
chr134412085044120929E07334905
chr134412099044121440E07335045
chr134412154644121804E07335601
chr134412208244122258E07336137
chr134413215544132766E07346210
chr134413281744133000E07346872
chr134413301744133460E07347072
chr134404771644048023E074-37922
chr134404804444048132E074-37813
chr134404822844048557E074-37388
chr134405645944056581E074-29364
chr134405689244056998E074-28947
chr134405704744057148E074-28797
chr134405851644058587E074-27358
chr134405873544058832E074-27113
chr134405906044059276E074-26669
chr134405934944059417E074-26528
chr134406304244063092E074-22853
chr134406317044063857E074-22088
chr134408817244088303E0742227
chr134408833544088886E0742390
chr134408905844089286E0743113
chr134408930844089385E0743363
chr134408944044089494E0743495
chr134408953544089736E0743590
chr134408975644090114E0743811
chr134409016644090226E0744221
chr134409031144091133E0744366
chr134411105044111750E07425105
chr134411952644119647E07433581
chr134411968144119914E07433736
chr134411995744120315E07434012
chr134412034244120777E07434397
chr134412085044120929E07434905
chr134412099044121440E07435045
chr134412154644121804E07435601
chr134412208244122258E07436137
chr134412233944122383E07436394
chr134412284244122892E07436897
chr134412624844126342E07440303
chr134412636444126431E07440419
chr134412750644127613E07441561
chr134412766044127829E07441715
chr134412994044130002E07443995
chr134413094244131295E07444997
chr134413140644131459E07445461
chr134413148944131633E07445544
chr134413168344131743E07445738
chr134413206144132111E07446116
chr134413215544132766E07446210
chr134413281744133000E07446872
chr134413301744133460E07447072
chr134413360044133654E07447655
chr134413442344134473E07448478
chr134413455344134603E07448608
chr134413535844135541E07449413
chr134404639944046509E081-39436
chr134404651444046787E081-39158
chr134404682544047017E081-38928
chr134404705444047118E081-38827
chr134408678544086849E081840
chr134408703044087091E0811085
chr134408711544087165E0811170
chr134412284244122892E08136897
chr134404651444046787E082-39158
chr134404682544047017E082-38928