rs4719953

Homo sapiens
T>A
CREB5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0281 (8433/29944,GnomAD)
A=0265 (7740/29118,TOPMED)
A=0250 (1251/5008,1000G)
A=0354 (1365/3854,ALSPAC)
A=0354 (1311/3708,TWINSUK)
chr7:28774165 (GRCh38.p7) (7p15.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.28774165T>A
GRCh37.p13 chr 7NC_000007.13:g.28813782T>A

Gene: CREB5, cAMP responsive element binding protein 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CREB5 transcript variant 4NM_001011666.2:c.N/AIntron Variant
CREB5 transcript variant 2NM_004904.3:c.N/AIntron Variant
CREB5 transcript variant 1NM_182898.3:c.N/AIntron Variant
CREB5 transcript variant 3NM_182899.4:c.N/AIntron Variant
CREB5 transcript variant X4XM_005249906.1:c.N/AIntron Variant
CREB5 transcript variant X1XM_017012806.1:c.N/AIntron Variant
CREB5 transcript variant X2XM_017012807.1:c.N/AIntron Variant
CREB5 transcript variant X3XM_017012808.1:c.N/AIntron Variant
CREB5 transcript variant X5XM_017012809.1:c.N/AIntron Variant
CREB5 transcript variant X7XM_017012810.1:c.N/AIntron Variant
CREB5 transcript variant X9XM_011515618.2:c.N/AGenic Downstream Transcript Variant
CREB5 transcript variant X7XR_001744893.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.834A=0.166
1000GenomesAmericanSub694T=0.740A=0.260
1000GenomesEast AsianSub1008T=0.874A=0.126
1000GenomesEuropeSub1006T=0.656A=0.344
1000GenomesGlobalStudy-wide5008T=0.750A=0.250
1000GenomesSouth AsianSub978T=0.610A=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.646A=0.354
The Genome Aggregation DatabaseAfricanSub8728T=0.830A=0.170
The Genome Aggregation DatabaseAmericanSub838T=0.760A=0.240
The Genome Aggregation DatabaseEast AsianSub1620T=0.886A=0.114
The Genome Aggregation DatabaseEuropeSub18456T=0.649A=0.350
The Genome Aggregation DatabaseGlobalStudy-wide29944T=0.718A=0.281
The Genome Aggregation DatabaseOtherSub302T=0.710A=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.734A=0.265
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.646A=0.354
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs47199530.000745alcohol dependence21314694

eQTL of rs4719953 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 rs4719953 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 )
chr72876385028763908E067-49874
chr72876565828765866E067-47916
chr72876591628766009E067-47773
chr72876613028766528E067-47254
chr72876734528767414E067-46368
chr72876895428769237E067-44545
chr72876928228769368E067-44414
chr72876938728769715E067-44067
chr72876971928769814E067-43968
chr72876982328769886E067-43896
chr72876991728769969E067-43813
chr72877026628770537E067-43245
chr72877058228770720E067-43062
chr72877079428770895E067-42887
chr72877097328771341E067-42441
chr72877248428772598E067-41184
chr72877263928772690E067-41092
chr72877272328772882E067-40900
chr72877290428772958E067-40824
chr72877299128773358E067-40424
chr72877363328773683E067-40099
chr72877375828773808E067-39974
chr72877789928778449E067-35333
chr72877874328778797E067-34985
chr72877879928779042E067-34740
chr72878446628785526E067-28256
chr72878553228785752E067-28030
chr72878607228786122E067-27660
chr72878615828786594E067-27188
chr72878670128787416E067-26366
chr72878759528787704E067-26078
chr72878780628787872E067-25910
chr72878790828787958E067-25824
chr72878803028788162E067-25620
chr72878822428788342E067-25440
chr72878840628788460E067-25322
chr72878848528788538E067-25244
chr72879074728790853E067-22929
chr72879086728791088E067-22694
chr72879349628793661E067-20121
chr72879366328794023E067-19759
chr72879403928794587E067-19195
chr72879476828794867E067-18915
chr72879489428795297E067-18485
chr72879537828795430E067-18352
chr72879767928797767E067-16015
chr72879786728798083E067-15699
chr72879810728798147E067-15635
chr72879817428798246E067-15536
chr72879856528798644E067-15138
chr72879870228798756E067-15026
chr72879882928798896E067-14886
chr72879898728799680E067-14102
chr72879981128800155E067-13627
chr72880022328800302E067-13480
chr72880041028800503E067-13279
chr72880064628800803E067-12979
chr72880318028803306E067-10476
chr72880950128809565E067-4217
chr72880996328810031E067-3751
chr72881981928819943E0676037
chr72882233128822425E0678549
chr72882243128822543E0678649
chr72882348128823582E0679699
chr72882363828824711E0679856
chr72882473628825235E06710954
chr72882680928827021E06713027
chr72882740128827445E06713619
chr72882768628827825E06713904
chr72882787728827917E06714095
chr72882816928828258E06714387
chr72882831428828436E06714532
chr72882860428828664E06714822
chr72883234928832435E06718567
chr72883244428832583E06718662
chr72883270728832860E06718925
chr72883299928833691E06719217
chr72883878028838874E06724998
chr72883938428839508E06725602
chr72883963428839714E06725852
chr72883986428840031E06726082
chr72885103328851113E06737251
chr72885146828852151E06737686
chr72885226128852342E06738479
chr72885235028852579E06738568
chr72885261128852845E06738829
chr72885285228853528E06739070
chr72876385028763908E068-49874
chr72876469328764760E068-49022
chr72876476628764919E068-48863
chr72876494028765239E068-48543
chr72876542328765473E068-48309
chr72876565828765866E068-47916
chr72876591628766009E068-47773
chr72876613028766528E068-47254
chr72876734528767414E068-46368
chr72876758728767659E068-46123
chr72876826528768315E068-45467
chr72876895428769237E068-44545
chr72876928228769368E068-44414
chr72876938728769715E068-44067
chr72876971928769814E068-43968
chr72876982328769886E068-43896
chr72876991728769969E068-43813
chr72877026628770537E068-43245
chr72877097328771341E068-42441
chr72877248428772598E068-41184
chr72877263928772690E068-41092
chr72877272328772882E068-40900
chr72877290428772958E068-40824
chr72877299128773358E068-40424
chr72877789928778449E068-35333
chr72877922828779292E068-34490
chr72878446628785526E068-28256
chr72878553228785752E068-28030
chr72878607228786122E068-27660
chr72878615828786594E068-27188
chr72878670128787416E068-26366
chr72878759528787704E068-26078
chr72878780628787872E068-25910
chr72878790828787958E068-25824
chr72878803028788162E068-25620
chr72878822428788342E068-25440
chr72878840628788460E068-25322
chr72878848528788538E068-25244
chr72878863028789712E068-24070
chr72878979128790159E068-23623
chr72879074728790853E068-22929
chr72879086728791088E068-22694
chr72879267628792745E068-21037
chr72879294528792995E068-20787
chr72879349628793661E068-20121
chr72879366328794023E068-19759
chr72879403928794587E068-19195
chr72879476828794867E068-18915
chr72879489428795297E068-18485
chr72879537828795430E068-18352
chr72879554728795597E068-18185
chr72879767928797767E068-16015
chr72879786728798083E068-15699
chr72879810728798147E068-15635
chr72879817428798246E068-15536
chr72879898728799680E068-14102
chr72879981128800155E068-13627
chr72880616428806285E068-7497
chr72880659528806645E068-7137
chr72881195828812018E068-1764
chr72881208728812174E068-1608
chr72881248428812615E068-1167
chr72881391728814329E068135
chr72881434128814570E068559
chr72881856328818660E0684781
chr72881921028819260E0685428
chr72881928128819340E0685499
chr72881981928819943E0686037
chr72882040728820575E0686625
chr72882209828822211E0688316
chr72882233128822425E0688549
chr72882243128822543E0688649
chr72882348128823582E0689699
chr72882363828824711E0689856
chr72882473628825235E06810954
chr72882680928827021E06813027
chr72882740128827445E06813619
chr72882768628827825E06813904
chr72882787728827917E06814095
chr72883162728831681E06817845
chr72883186528831905E06818083
chr72883208728832173E06818305
chr72883234928832435E06818567
chr72883244428832583E06818662
chr72883270728832860E06818925
chr72883299928833691E06819217
chr72883373528834002E06819953
chr72883428228834361E06820500
chr72883441228834473E06820630
chr72885064928850741E06836867
chr72885082228850940E06837040
chr72885103328851113E06837251
chr72885146828852151E06837686
chr72885226128852342E06838479
chr72885235028852579E06838568
chr72885261128852845E06838829
chr72885285228853528E06839070
chr72885366128853893E06839879
chr72885391128854024E06840129
chr72885430828854388E06840526
chr72885506028855261E06841278
chr72876385028763908E069-49874
chr72876469328764760E069-49022
chr72876476628764919E069-48863
chr72876494028765239E069-48543
chr72876542328765473E069-48309
chr72876565828765866E069-47916
chr72876591628766009E069-47773
chr72876613028766528E069-47254
chr72876734528767414E069-46368
chr72876758728767659E069-46123
chr72876895428769237E069-44545
chr72876928228769368E069-44414
chr72876938728769715E069-44067
chr72876971928769814E069-43968
chr72876982328769886E069-43896
chr72876991728769969E069-43813
chr72877026628770537E069-43245
chr72877058228770720E069-43062
chr72877079428770895E069-42887
chr72877097328771341E069-42441
chr72877152228772334E069-41448
chr72877248428772598E069-41184
chr72877263928772690E069-41092
chr72877272328772882E069-40900
chr72877290428772958E069-40824
chr72877299128773358E069-40424
chr72877363328773683E069-40099
chr72877375828773808E069-39974
chr72877789928778449E069-35333
chr72877874328778797E069-34985
chr72877879928779042E069-34740
chr72877922828779292E069-34490
chr72878446628785526E069-28256
chr72878553228785752E069-28030
chr72878607228786122E069-27660
chr72878615828786594E069-27188
chr72878670128787416E069-26366
chr72878759528787704E069-26078
chr72878780628787872E069-25910
chr72878790828787958E069-25824
chr72878803028788162E069-25620
chr72878822428788342E069-25440
chr72878840628788460E069-25322
chr72878848528788538E069-25244
chr72878863028789712E069-24070
chr72878979128790159E069-23623
chr72879074728790853E069-22929
chr72879086728791088E069-22694
chr72879267628792745E069-21037
chr72879294528792995E069-20787
chr72879349628793661E069-20121
chr72879366328794023E069-19759
chr72879403928794587E069-19195
chr72879476828794867E069-18915
chr72879489428795297E069-18485
chr72879537828795430E069-18352
chr72879786728798083E069-15699
chr72879810728798147E069-15635
chr72879817428798246E069-15536
chr72879856528798644E069-15138
chr72879870228798756E069-15026
chr72879882928798896E069-14886
chr72879898728799680E069-14102
chr72879981128800155E069-13627
chr72880022328800302E069-13480
chr72880041028800503E069-13279
chr72880064628800803E069-12979
chr72880087228801695E069-12087
chr72880211728802877E069-10905
chr72880318028803306E069-10476
chr72880616428806285E069-7497
chr72880659528806645E069-7137
chr72880810628808197E069-5585
chr72880825928808557E069-5225
chr72880865828808736E069-5046
chr72880934228809392E069-4390
chr72880950128809565E069-4217
chr72881043728810487E069-3295
chr72881921028819260E0695428
chr72881928128819340E0695499
chr72881981928819943E0696037
chr72882040728820575E0696625
chr72882348128823582E0699699
chr72882363828824711E0699856
chr72882473628825235E06910954
chr72882529928825651E06911517
chr72882577828825877E06911996
chr72882643028826547E06912648
chr72882662228826711E06912840
chr72882680928827021E06913027
chr72882740128827445E06913619
chr72882768628827825E06913904
chr72882787728827917E06914095
chr72882816928828258E06914387
chr72882831428828436E06914532
chr72882860428828664E06914822
chr72882912828829226E06915346
chr72882933628829431E06915554
chr72883019528830299E06916413
chr72883208728832173E06918305
chr72883234928832435E06918567
chr72883244428832583E06918662
chr72883270728832860E06918925
chr72883299928833691E06919217
chr72883493028835078E06921148
chr72883986428840031E06926082
chr72884030828840352E06926526
chr72884036928840482E06926587
chr72885039528850478E06936613
chr72885064928850741E06936867
chr72885082228850940E06937040
chr72885103328851113E06937251
chr72885146828852151E06937686
chr72885226128852342E06938479
chr72885235028852579E06938568
chr72885261128852845E06938829
chr72885285228853528E06939070
chr72885366128853893E06939879
chr72885391128854024E06940129
chr72885430828854388E06940526
chr72876385028763908E070-49874
chr72876469328764760E070-49022
chr72876476628764919E070-48863
chr72876494028765239E070-48543
chr72876542328765473E070-48309
chr72876565828765866E070-47916
chr72876591628766009E070-47773
chr72877248428772598E070-41184
chr72877272328772882E070-40900
chr72877290428772958E070-40824
chr72877299128773358E070-40424
chr72877874328778797E070-34985
chr72877879928779042E070-34740
chr72877922828779292E070-34490
chr72878446628785526E070-28256
chr72878553228785752E070-28030
chr72878607228786122E070-27660
chr72878615828786594E070-27188
chr72878670128787416E070-26366
chr72878759528787704E070-26078
chr72878780628787872E070-25910
chr72878790828787958E070-25824
chr72878803028788162E070-25620
chr72878822428788342E070-25440
chr72879349628793661E070-20121
chr72879366328794023E070-19759
chr72879403928794587E070-19195
chr72879786728798083E070-15699
chr72879810728798147E070-15635
chr72879817428798246E070-15536
chr72879856528798644E070-15138
chr72879870228798756E070-15026
chr72879882928798896E070-14886
chr72879898728799680E070-14102
chr72881921028819260E0705428
chr72881928128819340E0705499
chr72881981928819943E0706037
chr72882348128823582E0709699
chr72882363828824711E0709856
chr72882473628825235E07010954
chr72883299928833691E07019217
chr72883373528834002E07019953
chr72883428228834361E07020500
chr72883441228834473E07020630
chr72883878028838874E07024998
chr72885226128852342E07038479
chr72885235028852579E07038568
chr72885261128852845E07038829
chr72885285228853528E07039070
chr72885961928859669E07045837
chr72885967328859763E07045891
chr72885977328859920E07045991
chr72886017028860220E07046388
chr72886164328861738E07047861
chr72886202828862509E07048246
chr72886263828862753E07048856
chr72886326928863440E07049487
chr72886363328863683E07049851
chr72876385028763908E071-49874
chr72876469328764760E071-49022
chr72876476628764919E071-48863
chr72876494028765239E071-48543
chr72876542328765473E071-48309
chr72876565828765866E071-47916
chr72876591628766009E071-47773
chr72876613028766528E071-47254
chr72876734528767414E071-46368
chr72876758728767659E071-46123
chr72876826528768315E071-45467
chr72876895428769237E071-44545
chr72876928228769368E071-44414
chr72876938728769715E071-44067
chr72876971928769814E071-43968
chr72876982328769886E071-43896
chr72876991728769969E071-43813
chr72877026628770537E071-43245
chr72877058228770720E071-43062
chr72877079428770895E071-42887
chr72877097328771341E071-42441
chr72877248428772598E071-41184
chr72877263928772690E071-41092
chr72877272328772882E071-40900
chr72877290428772958E071-40824
chr72877299128773358E071-40424
chr72877363328773683E071-40099
chr72877375828773808E071-39974
chr72877789928778449E071-35333
chr72877874328778797E071-34985
chr72877879928779042E071-34740
chr72877922828779292E071-34490
chr72877944628779824E071-33958
chr72877989728780157E071-33625
chr72878426528784339E071-29443
chr72878446628785526E071-28256
chr72878553228785752E071-28030
chr72878607228786122E071-27660
chr72878615828786594E071-27188
chr72878670128787416E071-26366
chr72878759528787704E071-26078
chr72878780628787872E071-25910
chr72878790828787958E071-25824
chr72878803028788162E071-25620
chr72878822428788342E071-25440
chr72878840628788460E071-25322
chr72878848528788538E071-25244
chr72878863028789712E071-24070
chr72878979128790159E071-23623
chr72879074728790853E071-22929
chr72879086728791088E071-22694
chr72879267628792745E071-21037
chr72879294528792995E071-20787
chr72879349628793661E071-20121
chr72879366328794023E071-19759
chr72879476828794867E071-18915
chr72879489428795297E071-18485
chr72879537828795430E071-18352
chr72879767928797767E071-16015
chr72879786728798083E071-15699
chr72879810728798147E071-15635
chr72879817428798246E071-15536
chr72879856528798644E071-15138
chr72879870228798756E071-15026
chr72879882928798896E071-14886
chr72879898728799680E071-14102
chr72879981128800155E071-13627
chr72880022328800302E071-13480
chr72880041028800503E071-13279
chr72880064628800803E071-12979
chr72880087228801695E071-12087
chr72880211728802877E071-10905
chr72880616428806285E071-7497
chr72880659528806645E071-7137
chr72880825928808557E071-5225
chr72880865828808736E071-5046
chr72881107428811138E071-2644
chr72881168528811735E071-2047
chr72881195828812018E071-1764
chr72881208728812174E071-1608
chr72881348928813755E071-27
chr72881391728814329E071135
chr72881856328818660E0714781
chr72881921028819260E0715428
chr72881928128819340E0715499
chr72881981928819943E0716037
chr72882040728820575E0716625
chr72882170928821783E0717927
chr72882209828822211E0718316
chr72882233128822425E0718549
chr72882243128822543E0718649
chr72882348128823582E0719699
chr72882363828824711E0719856
chr72882473628825235E07110954
chr72882662228826711E07112840
chr72882680928827021E07113027
chr72882740128827445E07113619
chr72882768628827825E07113904
chr72882787728827917E07114095
chr72882816928828258E07114387
chr72882831428828436E07114532
chr72882860428828664E07114822
chr72882912828829226E07115346
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