rs12874803

Homo sapiens
T>C
ENOX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0085 (2572/29962,GnomAD)
C=0075 (2194/29116,TOPMED)
C=0047 (234/5008,1000G)
C=0136 (525/3854,ALSPAC)
C=0146 (542/3708,TWINSUK)
chr13:43285188 (GRCh38.p7) (13q14.11)
AD
GWASdb2
1   publication(s)
See rs on genome
358 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.43285188T>C
GRCh37.p13 chr 13NC_000013.10:g.43859324T>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/AGenic Downstream Transcript Variant
ENOX1 transcript variant X12XM_017020642.1:c.N/AGenic Downstream Transcript Variant
ENOX1 transcript variant X13XR_001749593.1:n.N/AIntron Variant
ENOX1 transcript variant X12XR_001749594.1:n.N/AIntron Variant
ENOX1 transcript variant X11XR_001749592.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.993C=0.007
1000GenomesAmericanSub694T=0.920C=0.080
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.867C=0.133
1000GenomesGlobalStudy-wide5008T=0.953C=0.047
1000GenomesSouth AsianSub978T=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.864C=0.136
The Genome Aggregation DatabaseAfricanSub8724T=0.978C=0.022
The Genome Aggregation DatabaseAmericanSub836T=0.930C=0.070
The Genome Aggregation DatabaseEast AsianSub1620T=0.998C=0.002
The Genome Aggregation DatabaseEuropeSub18480T=0.878C=0.121
The Genome Aggregation DatabaseGlobalStudy-wide29962T=0.914C=0.085
The Genome Aggregation DatabaseOtherSub302T=0.800C=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.924C=0.075
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.854C=0.146
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
rs128748030.0001alcohol dependence20201924

eQTL of rs12874803 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 rs12874803 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 )
chr134381168643811798E067-47526
chr134382681143826861E067-32463
chr134384505543845156E067-14168
chr134384516943845360E067-13964
chr134384544743845497E067-13827
chr134384550743845561E067-13763
chr134387665043878025E06717326
chr134387922043879333E06719896
chr134387963843879843E06720314
chr134388001543880083E06720691
chr134388012443880370E06720800
chr134388043543880488E06721111
chr134388056543880781E06721241
chr134388124743881402E06721923
chr134388145743881727E06722133
chr134388174143882497E06722417
chr134389888343898933E06739559
chr134389996143900073E06740637
chr134390010043900181E06740776
chr134390032643900433E06741002
chr134390060443900716E06741280
chr134390098243901032E06741658
chr134390320643903279E06743882
chr134390348143903535E06744157
chr134390397443904056E06744650
chr134390412643904209E06744802
chr134390447043904530E06745146
chr134390511743905224E06745793
chr134390522743905291E06745903
chr134390533243905468E06746008
chr134390569943905779E06746375
chr134390578843906237E06746464
chr134390627443906384E06746950
chr134384505543845156E068-14168
chr134384914243849645E068-9679
chr134387665043878025E06817326
chr134388124743881402E06821923
chr134388145743881727E06822133
chr134388174143882497E06822417
chr134389996143900073E06840637
chr134390010043900181E06840776
chr134390032643900433E06841002
chr134390060443900716E06841280
chr134390098243901032E06841658
chr134390108743901137E06841763
chr134390133543901479E06842011
chr134390511743905224E06845793
chr134390522743905291E06845903
chr134390533243905468E06846008
chr134390554543905595E06846221
chr134390569943905779E06846375
chr134390578843906237E06846464
chr134390627443906384E06846950
chr134390651143906587E06847187
chr134385999943860601E069675
chr134387665043878025E06917326
chr134387803243878133E06918708
chr134388124743881402E06921923
chr134388145743881727E06922133
chr134388174143882497E06922417
chr134388252743882593E06923203
chr134388304243883193E06923718
chr134389888343898933E06939559
chr134389996143900073E06940637
chr134390010043900181E06940776
chr134390032643900433E06941002
chr134390060443900716E06941280
chr134390098243901032E06941658
chr134390108743901137E06941763
chr134390133543901479E06942011
chr134390282743902905E06943503
chr134390320643903279E06943882
chr134390348143903535E06944157
chr134390397443904056E06944650
chr134390412643904209E06944802
chr134390447043904530E06945146
chr134390511743905224E06945793
chr134390522743905291E06945903
chr134390533243905468E06946008
chr134390554543905595E06946221
chr134390569943905779E06946375
chr134390578843906237E06946464
chr134390627443906384E06946950
chr134390651143906587E06947187
chr134382616943826419E070-32905
chr134382647743826579E070-32745
chr134382667843826743E070-32581
chr134382681143826861E070-32463
chr134382690743827026E070-32298
chr134382711243827402E070-31922
chr134382757343827623E070-31701
chr134383708843837148E070-22176
chr134383724543837505E070-21819
chr134383795343838057E070-21267
chr134383817843838534E070-20790
chr134383860743838828E070-20496
chr134383908743839293E070-20031
chr134383935143839421E070-19903
chr134383944643839562E070-19762
chr134383991343839965E070-19359
chr134384021543840458E070-18866
chr134384061143840711E070-18613
chr134384197243842093E070-17231
chr134384285943844859E070-14465
chr134384505543845156E070-14168
chr134384516943845360E070-13964
chr134384544743845497E070-13827
chr134384550743845561E070-13763
chr134384721243847478E070-11846
chr134384755043847753E070-11571
chr134384914243849645E070-9679
chr134385228143852578E070-6746
chr134385956043859732E070236
chr134385979943859910E070475
chr134385999943860601E070675
chr134386082443861519E0701500
chr134387250443872834E07013180
chr134387287443873376E07013550
chr134387391943874093E07014595
chr134387430143874341E07014977
chr134387460143874771E07015277
chr134387477343876098E07015449
chr134387621943876483E07016895
chr134387648843876634E07017164
chr134387665043878025E07017326
chr134387803243878133E07018708
chr134387963843879843E07020314
chr134388001543880083E07020691
chr134388012443880370E07020800
chr134388043543880488E07021111
chr134388056543880781E07021241
chr134388124743881402E07021923
chr134388145743881727E07022133
chr134388174143882497E07022417
chr134388252743882593E07023203
chr134388262743882863E07023303
chr134388938843890889E07030064
chr134389093443891572E07031610
chr134389377943894554E07034455
chr134390282743902905E07043503
chr134390320643903279E07043882
chr134390348143903535E07044157
chr134390397443904056E07044650
chr134390412643904209E07044802
chr134390447043904530E07045146
chr134390511743905224E07045793
chr134390522743905291E07045903
chr134390533243905468E07046008
chr134390554543905595E07046221
chr134390569943905779E07046375
chr134390578843906237E07046464
chr134390627443906384E07046950
chr134390651143906587E07047187
chr134390739543907754E07048071
chr134390831543908433E07048991
chr134384505543845156E071-14168
chr134384516943845360E071-13964
chr134384544743845497E071-13827
chr134384550743845561E071-13763
chr134385999943860601E071675
chr134387665043878025E07117326
chr134387922043879333E07119896
chr134388124743881402E07121923
chr134388145743881727E07122133
chr134388174143882497E07122417
chr134388252743882593E07123203
chr134389807843898128E07138754
chr134389819443898403E07138870
chr134389888343898933E07139559
chr134389996143900073E07140637
chr134390010043900181E07140776
chr134390032643900433E07141002
chr134390060443900716E07141280
chr134390098243901032E07141658
chr134390108743901137E07141763
chr134390133543901479E07142011
chr134390320643903279E07143882
chr134390348143903535E07144157
chr134390397443904056E07144650
chr134390412643904209E07144802
chr134390447043904530E07145146
chr134390511743905224E07145793
chr134390522743905291E07145903
chr134390533243905468E07146008
chr134390554543905595E07146221
chr134390569943905779E07146375
chr134390578843906237E07146464
chr134390627443906384E07146950
chr134390651143906587E07147187
chr134384505543845156E072-14168
chr134384516943845360E072-13964
chr134387665043878025E07217326
chr134387963843879843E07220314
chr134388145743881727E07222133
chr134388174143882497E07222417
chr134389807843898128E07238754
chr134389819443898403E07238870
chr134389888343898933E07239559
chr134389996143900073E07240637
chr134390010043900181E07240776
chr134390032643900433E07241002
chr134390060443900716E07241280
chr134390098243901032E07241658
chr134390108743901137E07241763
chr134390133543901479E07242011
chr134390412643904209E07244802
chr134390511743905224E07245793
chr134390522743905291E07245903
chr134390533243905468E07246008
chr134390554543905595E07246221
chr134390569943905779E07246375
chr134390578843906237E07246464
chr134390627443906384E07246950
chr134390651143906587E07247187
chr134384645943846513E073-12811
chr134387665043878025E07317326
chr134387803243878133E07318708
chr134388110343881205E07321779
chr134388124743881402E07321923
chr134388145743881727E07322133
chr134388174143882497E07322417
chr134388252743882593E07323203
chr134389093443891572E07331610
chr134389377943894554E07334455
chr134389996143900073E07340637
chr134390010043900181E07340776
chr134390032643900433E07341002
chr134390320643903279E07343882
chr134390348143903535E07344157
chr134390533243905468E07346008
chr134390554543905595E07346221
chr134390569943905779E07346375
chr134390578843906237E07346464
chr134390627443906384E07346950
chr134390651143906587E07347187
chr134382616943826419E074-32905
chr134382647743826579E074-32745
chr134385999943860601E074675
chr134387665043878025E07417326
chr134387922043879333E07419896
chr134387963843879843E07420314
chr134388145743881727E07422133
chr134388174143882497E07422417
chr134389093443891572E07431610
chr134389888343898933E07439559
chr134389996143900073E07440637
chr134390010043900181E07440776
chr134390032643900433E07441002
chr134390060443900716E07441280
chr134390098243901032E07441658
chr134390282743902905E07443503
chr134390320643903279E07443882
chr134390348143903535E07444157
chr134390397443904056E07444650
chr134390412643904209E07444802
chr134390447043904530E07445146
chr134390511743905224E07445793
chr134390522743905291E07445903
chr134390533243905468E07446008
chr134390554543905595E07446221
chr134390569943905779E07446375
chr134390578843906237E07446464
chr134390627443906384E07446950
chr134390651143906587E07447187
chr134381168643811798E081-47526
chr134382592743825995E081-33329
chr134382616943826419E081-32905
chr134382647743826579E081-32745
chr134382667843826743E081-32581
chr134382681143826861E081-32463
chr134382690743827026E081-32298
chr134382711243827402E081-31922
chr134382757343827623E081-31701
chr134383908743839293E081-20031
chr134383935143839421E081-19903
chr134383944643839562E081-19762
chr134383991343839965E081-19359
chr134384021543840458E081-18866
chr134384061143840711E081-18613
chr134384109543841503E081-17821
chr134384155743841898E081-17426
chr134384197243842093E081-17231
chr134384285943844859E081-14465
chr134384505543845156E081-14168
chr134384516943845360E081-13964
chr134384544743845497E081-13827
chr134384550743845561E081-13763
chr134384914243849645E081-9679
chr134385032443850374E081-8950
chr134385062443850751E081-8573
chr134385104643851096E081-8228
chr134385111743851167E081-8157
chr134385130443851354E081-7970
chr134385150243851555E081-7769
chr134385157843851628E081-7696
chr134385228143852578E081-6746
chr134385999943860601E081675
chr134387217143872272E08112847
chr134387228143872376E08112957
chr134387250443872834E08113180
chr134387287443873376E08113550
chr134387350643873629E08114182
chr134387367943873868E08114355
chr134387391943874093E08114595
chr134387430143874341E08114977
chr134387460143874771E08115277
chr134387477343876098E08115449
chr134387621943876483E08116895
chr134387648843876634E08117164
chr134387665043878025E08117326
chr134387803243878133E08118708
chr134387858743878654E08119263
chr134387963843879843E08120314
chr134388001543880083E08120691
chr134388012443880370E08120800
chr134388174143882497E08122417
chr134388252743882593E08123203
chr134388902543889075E08129701
chr134388923543889285E08129911
chr134388938843890889E08130064
chr134389274843892803E08133424
chr134389297543893144E08133651
chr134389377943894554E08134455
chr134390511743905224E08145793
chr134390522743905291E08145903
chr134390533243905468E08146008
chr134390554543905595E08146221
chr134390569943905779E08146375
chr134390578843906237E08146464
chr134390627443906384E08146950
chr134390651143906587E08147187
chr134382592743825995E082-33329
chr134382647743826579E082-32745
chr134384109543841503E082-17821
chr134384155743841898E082-17426
chr134384197243842093E082-17231
chr134384285943844859E082-14465
chr134387250443872834E08213180
chr134387287443873376E08213550
chr134387350643873629E08214182
chr134387367943873868E08214355
chr134387391943874093E08214595
chr134387665043878025E08217326
chr134387803243878133E08218708
chr134388938843890889E08230064
chr134389093443891572E08231610
chr134389377943894554E08234455
chr134389819443898403E08238870
chr134389888343898933E08239559
chr134390511743905224E08245793
chr134390522743905291E08245903
chr134390533243905468E08246008
chr134390554543905595E08246221
chr134390569943905779E08246375
chr134390578843906237E08246464
chr134390627443906384E08246950
chr134390651143906587E08247187
chr134390739543907754E08248071