rs12890394

Homo sapiens
C>T
C14orf132 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0058 (1752/29974,GnomAD)
T=0062 (1811/29118,TOPMED)
T=0081 (405/5008,1000G)
T=0048 (185/3854,ALSPAC)
T=0050 (186/3708,TWINSUK)
chr14:96045020 (GRCh38.p7) (14q32.2)
AD
GWASdb2
1   publication(s)
See rs on genome
409 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.96045020C>T
GRCh37.p13 chr 14NC_000014.8:g.96511357C>T

Gene: C14orf132, chromosome 14 open reading frame 132(plus strand)

Molecule type Change Amino acid[Codon] SO Term
C14orf132 transcript variant 2NM_001252507.2:c.N/AIntron Variant
C14orf132 transcript variant 1NM_001282463.1:c.N/AIntron Variant
C14orf132 transcript variant 3NM_001282464.1:c.N/AIntron Variant
C14orf132 transcript variant 4NM_001289139.1:c.N/AIntron Variant
C14orf132 transcript variant X1XM_017021469.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.903T=0.097
1000GenomesAmericanSub694C=0.960T=0.040
1000GenomesEast AsianSub1008C=0.843T=0.157
1000GenomesEuropeSub1006C=0.954T=0.046
1000GenomesGlobalStudy-wide5008C=0.919T=0.081
1000GenomesSouth AsianSub978C=0.950T=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.952T=0.048
The Genome Aggregation DatabaseAfricanSub8724C=0.910T=0.090
The Genome Aggregation DatabaseAmericanSub838C=0.960T=0.040
The Genome Aggregation DatabaseEast AsianSub1614C=0.848T=0.152
The Genome Aggregation DatabaseEuropeSub18496C=0.963T=0.036
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.941T=0.058
The Genome Aggregation DatabaseOtherSub302C=0.970T=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.937T=0.062
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.950T=0.050
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs128903941.56E-05alcohol consumption23953852

eQTL of rs12890394 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 rs12890394 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 )
chr149649366496494248E067-17109
chr149650791196507961E067-3396
chr149650799396508086E067-3271
chr149650910796509187E067-2170
chr149650933296509382E067-1975
chr149650955496509657E067-1700
chr149650968196509747E067-1610
chr149650979696509856E067-1501
chr149651646596516531E0675108
chr149651673896517020E0675381
chr149651707496517156E0675717
chr149651721096517278E0675853
chr149651736896517584E0676011
chr149651780596517886E0676448
chr149651796996518106E0676612
chr149651814796518379E0676790
chr149651849796518642E0677140
chr149651939296519470E0678035
chr149651968596519739E0678328
chr149651980896519852E0678451
chr149651993596520737E0678578
chr149652075996520859E0679402
chr149652117196521400E0679814
chr149652143996521767E06710082
chr149652184396521992E06710486
chr149652237096522875E06711013
chr149652315896523274E06711801
chr149652335996523432E06712002
chr149652349896523618E06712141
chr149652366996523950E06712312
chr149652716496527252E06715807
chr149652743196527544E06716074
chr149653137496531462E06720017
chr149653180696531856E06720449
chr149653206896532194E06720711
chr149653224596532296E06720888
chr149653231796532465E06720960
chr149653256696532760E06721209
chr149654429096544415E06732933
chr149654441996544469E06733062
chr149654453696545175E06733179
chr149655116696551348E06739809
chr149655142396551473E06740066
chr149655167096551720E06740313
chr149655178796551858E06740430
chr149655676296557548E06745405
chr149655757696557666E06746219
chr149655775196557824E06746394
chr149655782796557896E06746470
chr149655789896557992E06746541
chr149649366496494248E068-17109
chr149650758496507877E068-3480
chr149650791196507961E068-3396
chr149650799396508086E068-3271
chr149650809996508152E068-3205
chr149650844196508488E068-2869
chr149650866296508908E068-2449
chr149650910796509187E068-2170
chr149650933296509382E068-1975
chr149650955496509657E068-1700
chr149650968196509747E068-1610
chr149650979696509856E068-1501
chr149651142096511585E06863
chr149651673896517020E0685381
chr149651707496517156E0685717
chr149651721096517278E0685853
chr149651736896517584E0686011
chr149651780596517886E0686448
chr149651796996518106E0686612
chr149651905396519351E0687696
chr149651939296519470E0688035
chr149651968596519739E0688328
chr149651980896519852E0688451
chr149651993596520737E0688578
chr149652075996520859E0689402
chr149652117196521400E0689814
chr149652143996521767E06810082
chr149652184396521992E06810486
chr149652237096522875E06811013
chr149652669496526915E06815337
chr149652697496527024E06815617
chr149652716496527252E06815807
chr149652743196527544E06816074
chr149652771296527762E06816355
chr149653180696531856E06820449
chr149653206896532194E06820711
chr149653224596532296E06820888
chr149653231796532465E06820960
chr149653256696532760E06821209
chr149653296896533023E06821611
chr149653335596533454E06821998
chr149653354296533607E06822185
chr149654429096544415E06832933
chr149654441996544469E06833062
chr149654453696545175E06833179
chr149655167096551720E06840313
chr149655178796551858E06840430
chr149655188896552203E06840531
chr149655629696556336E06844939
chr149655638796556474E06845030
chr149655676296557548E06845405
chr149655757696557666E06846219
chr149655775196557824E06846394
chr149655782796557896E06846470
chr149655789896557992E06846541
chr149649366496494248E069-17109
chr149650791196507961E069-3396
chr149650799396508086E069-3271
chr149651673896517020E0695381
chr149651707496517156E0695717
chr149651721096517278E0695853
chr149651736896517584E0696011
chr149651780596517886E0696448
chr149651796996518106E0696612
chr149651814796518379E0696790
chr149651939296519470E0698035
chr149651968596519739E0698328
chr149651980896519852E0698451
chr149651993596520737E0698578
chr149652075996520859E0699402
chr149652117196521400E0699814
chr149652143996521767E06910082
chr149652184396521992E06910486
chr149652237096522875E06911013
chr149652315896523274E06911801
chr149652335996523432E06912002
chr149652349896523618E06912141
chr149652644196526584E06915084
chr149652669496526915E06915337
chr149652697496527024E06915617
chr149652716496527252E06915807
chr149653206896532194E06920711
chr149653224596532296E06920888
chr149653231796532465E06920960
chr149653256696532760E06921209
chr149654527896545344E06933921
chr149655167096551720E06940313
chr149655178796551858E06940430
chr149655188896552203E06940531
chr149655629696556336E06944939
chr149655638796556474E06945030
chr149655676296557548E06945405
chr149655757696557666E06946219
chr149655775196557824E06946394
chr149655782796557896E06946470
chr149655789896557992E06946541
chr149646828096468720E070-42637
chr149649315096493200E070-18157
chr149650844196508488E070-2869
chr149650866296508908E070-2449
chr149650910796509187E070-2170
chr149651673896517020E0705381
chr149651707496517156E0705717
chr149651780596517886E0706448
chr149652237096522875E07011013
chr149652315896523274E07011801
chr149652335996523432E07012002
chr149652349896523618E07012141
chr149652716496527252E07015807
chr149652743196527544E07016074
chr149653224596532296E07020888
chr149653231796532465E07020960
chr149653256696532760E07021209
chr149654441996544469E07033062
chr149655581496555895E07044457
chr149655591696555966E07044559
chr149655601796556104E07044660
chr149655629696556336E07044939
chr149655638796556474E07045030
chr149655676296557548E07045405
chr149655757696557666E07046219
chr149655775196557824E07046394
chr149655782796557896E07046470
chr149655789896557992E07046541
chr149655969996559749E07048342
chr149649366496494248E071-17109
chr149650758496507877E071-3480
chr149650791196507961E071-3396
chr149650799396508086E071-3271
chr149650809996508152E071-3205
chr149650866296508908E071-2449
chr149650910796509187E071-2170
chr149650933296509382E071-1975
chr149650955496509657E071-1700
chr149650968196509747E071-1610
chr149650979696509856E071-1501
chr149651013296510182E071-1175
chr149651646596516531E0715108
chr149651673896517020E0715381
chr149651707496517156E0715717
chr149651721096517278E0715853
chr149651736896517584E0716011
chr149651780596517886E0716448
chr149651796996518106E0716612
chr149651814796518379E0716790
chr149651849796518642E0717140
chr149651883196518883E0717474
chr149651905396519351E0717696
chr149651939296519470E0718035
chr149651968596519739E0718328
chr149652117196521400E0719814
chr149652143996521767E07110082
chr149652184396521992E07110486
chr149652237096522875E07111013
chr149652315896523274E07111801
chr149652335996523432E07112002
chr149652349896523618E07112141
chr149652366996523950E07112312
chr149652628496526334E07114927
chr149652644196526584E07115084
chr149652669496526915E07115337
chr149652697496527024E07115617
chr149652716496527252E07115807
chr149652743196527544E07116074
chr149653206896532194E07120711
chr149653224596532296E07120888
chr149653231796532465E07120960
chr149653256696532760E07121209
chr149653296896533023E07121611
chr149653335596533454E07121998
chr149653354296533607E07122185
chr149653412796534177E07122770
chr149654983796549940E07138480
chr149654994896550364E07138591
chr149655601796556104E07144660
chr149655676296557548E07145405
chr149655757696557666E07146219
chr149655775196557824E07146394
chr149655782796557896E07146470
chr149655789896557992E07146541
chr149649366496494248E072-17109
chr149650809996508152E072-3205
chr149651646596516531E0725108
chr149651673896517020E0725381
chr149651707496517156E0725717
chr149651721096517278E0725853
chr149651736896517584E0726011
chr149651780596517886E0726448
chr149651796996518106E0726612
chr149651814796518379E0726790
chr149651849796518642E0727140
chr149651968596519739E0728328
chr149651980896519852E0728451
chr149652117196521400E0729814
chr149652143996521767E07210082
chr149652184396521992E07210486
chr149652237096522875E07211013
chr149652315896523274E07211801
chr149652335996523432E07212002
chr149652644196526584E07215084
chr149652669496526915E07215337
chr149652697496527024E07215617
chr149652716496527252E07215807
chr149652743196527544E07216074
chr149652771296527762E07216355
chr149653127496531345E07219917
chr149653137496531462E07220017
chr149653180696531856E07220449
chr149653206896532194E07220711
chr149653224596532296E07220888
chr149653231796532465E07220960
chr149653256696532760E07221209
chr149653296896533023E07221611
chr149653335596533454E07221998
chr149653354296533607E07222185
chr149655629696556336E07244939
chr149655638796556474E07245030
chr149655676296557548E07245405
chr149655757696557666E07246219
chr149655775196557824E07246394
chr149655782796557896E07246470
chr149655789896557992E07246541
chr149649366496494248E073-17109
chr149649670896496793E073-14564
chr149650844196508488E073-2869
chr149650933296509382E073-1975
chr149650955496509657E073-1700
chr149650968196509747E073-1610
chr149650979696509856E073-1501
chr149651707496517156E0735717
chr149651721096517278E0735853
chr149651736896517584E0736011
chr149651968596519739E0738328
chr149651980896519852E0738451
chr149652117196521400E0739814
chr149652143996521767E07310082
chr149652184396521992E07310486
chr149652237096522875E07311013
chr149652669496526915E07315337
chr149652697496527024E07315617
chr149652716496527252E07315807
chr149653137496531462E07320017
chr149653180696531856E07320449
chr149653206896532194E07320711
chr149653224596532296E07320888
chr149653231796532465E07320960
chr149653256696532760E07321209
chr149653335596533454E07321998
chr149653354296533607E07322185
chr149653412796534177E07322770
chr149653506096535147E07323703
chr149654429096544415E07332933
chr149654441996544469E07333062
chr149654453696545175E07333179
chr149655601796556104E07344660
chr149655676296557548E07345405
chr149655757696557666E07346219
chr149655775196557824E07346394
chr149649366496494248E074-17109
chr149649670896496793E074-14564
chr149650791196507961E074-3396
chr149650799396508086E074-3271
chr149650809996508152E074-3205
chr149651673896517020E0745381
chr149651707496517156E0745717
chr149651721096517278E0745853
chr149651736896517584E0746011
chr149651780596517886E0746448
chr149651796996518106E0746612
chr149651814796518379E0746790
chr149651849796518642E0747140
chr149651968596519739E0748328
chr149651980896519852E0748451
chr149651993596520737E0748578
chr149652075996520859E0749402
chr149652117196521400E0749814
chr149652143996521767E07410082
chr149652184396521992E07410486
chr149652237096522875E07411013
chr149652315896523274E07411801
chr149652335996523432E07412002
chr149652349896523618E07412141
chr149652366996523950E07412312
chr149653224596532296E07420888
chr149653231796532465E07420960
chr149653256696532760E07421209
chr149654429096544415E07432933
chr149654441996544469E07433062
chr149654453696545175E07433179
chr149655676296557548E07445405
chr149655757696557666E07446219
chr149655775196557824E07446394
chr149655782796557896E07446470
chr149655789896557992E07446541
chr149649366496494248E081-17109
chr149649476196494841E081-16516
chr149649524296495494E081-15863
chr149649559496495837E081-15520
chr149649653096496687E081-14670
chr149649670896496793E081-14564
chr149649686996496935E081-14422
chr149649697896497028E081-14329
chr149650418196504436E081-6921
chr149650799396508086E081-3271
chr149650809996508152E081-3205
chr149650844196508488E081-2869
chr149650866296508908E081-2449
chr149651980896519852E0818451
chr149652669496526915E08115337
chr149652697496527024E08115617
chr149652716496527252E08115807
chr149653224596532296E08120888
chr149653231796532465E08120960
chr149653256696532760E08121209
chr149654983796549940E08138480
chr149654994896550364E08138591
chr149655045996550544E08139102
chr149655072096550811E08139363
chr149655116696551348E08139809
chr149655638796556474E08145030
chr149655676296557548E08145405
chr149655757696557666E08146219
chr149655775196557824E08146394
chr149649285596492909E082-18448
chr149649291696492974E082-18383
chr149649315096493200E082-18157
chr149649476196494841E082-16516
chr149649524296495494E082-15863
chr149649559496495837E082-15520
chr149649653096496687E082-14670
chr149649670896496793E082-14564
chr149649686996496935E082-14422
chr149649697896497028E082-14329
chr149650799396508086E082-3271
chr149650809996508152E082-3205
chr149650844196508488E082-2869
chr149650955496509657E082-1700
chr149650968196509747E082-1610
chr149650979696509856E082-1501
chr149651849796518642E0827140
chr149651883196518883E0827474
chr149651905396519351E0827696
chr149651939296519470E0828035
chr149651968596519739E0828328
chr149651980896519852E0828451
chr149652335996523432E08212002
chr149652349896523618E08212141
chr149652628496526334E08214927
chr149652644196526584E08215084
chr149653231796532465E08220960
chr149653256696532760E08221209
chr149653296896533023E08221611
chr149654983796549940E08238480
chr149654994896550364E08238591
chr149655676296557548E08245405
chr149655757696557666E08246219
chr149655775196557824E08246394
chr149655782796557896E08246470
chr149655789896557992E08246541










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr149650469896506907E067-4450
chr149650469896506907E068-4450
chr149650469896506907E069-4450
chr149650469896506907E070-4450
chr149650469896506907E071-4450
chr149650469896506907E072-4450
chr149650469896506907E073-4450
chr149650469896506907E074-4450
chr149650469896506907E082-4450