rs11595908

Homo sapiens
C>T
CTBP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0085 (2562/29968,GnomAD)
T=0073 (2128/29118,TOPMED)
T=0057 (287/5008,1000G)
T=0097 (372/3854,ALSPAC)
T=0095 (354/3708,TWINSUK)
chr10:125018107 (GRCh38.p7) (10q26.13)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.125018107C>T
GRCh37.p13 chr 10NC_000010.10:g.126706676C>T

Gene: CTBP2, C-terminal binding protein 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CTBP2 transcript variant 3NM_001083914.2:c.N/AIntron Variant
CTBP2 transcript variant 4NM_001290214.2:c.N/AIntron Variant
CTBP2 transcript variant 5NM_001290215.2:c.N/AIntron Variant
CTBP2 transcript variant 6NM_001321012.1:c.N/AIntron Variant
CTBP2 transcript variant 7NM_001321013.1:c.N/AIntron Variant
CTBP2 transcript variant 8NM_001321014.1:c.N/AIntron Variant
CTBP2 transcript variant 1NM_001329.3:c.N/AIntron Variant
CTBP2 transcript variant 2NM_022802.2:c.N/AIntron Variant
CTBP2 transcript variant X2XM_005269561.2:c.N/AIntron Variant
CTBP2 transcript variant X4XM_005269564.2:c.N/AIntron Variant
CTBP2 transcript variant X10XM_005269567.2:c.N/AIntron Variant
CTBP2 transcript variant X11XM_005269568.4:c.N/AIntron Variant
CTBP2 transcript variant X13XM_005269569.2:c.N/AIntron Variant
CTBP2 transcript variant X15XM_005269571.2:c.N/AIntron Variant
CTBP2 transcript variant X14XM_005269572.3:c.N/AIntron Variant
CTBP2 transcript variant X6XM_006717642.2:c.N/AIntron Variant
CTBP2 transcript variant X7XM_011539351.1:c.N/AIntron Variant
CTBP2 transcript variant X8XM_011539353.1:c.N/AIntron Variant
CTBP2 transcript variant X9XM_011539354.1:c.N/AIntron Variant
CTBP2 transcript variant X12XM_011539355.1:c.N/AIntron Variant
CTBP2 transcript variant X16XM_011539357.1:c.N/AIntron Variant
CTBP2 transcript variant X17XM_011539358.1:c.N/AIntron Variant
CTBP2 transcript variant X3XM_017015756.1:c.N/AIntron Variant
CTBP2 transcript variant X5XM_017015757.1:c.N/AIntron Variant
CTBP2 transcript variant X1XM_011539349.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.974T=0.026
1000GenomesAmericanSub694C=0.830T=0.170
1000GenomesEast AsianSub1008C=0.996T=0.004
1000GenomesEuropeSub1006C=0.895T=0.105
1000GenomesGlobalStudy-wide5008C=0.943T=0.057
1000GenomesSouth AsianSub978C=0.970T=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.903T=0.097
The Genome Aggregation DatabaseAfricanSub8730C=0.968T=0.032
The Genome Aggregation DatabaseAmericanSub838C=0.830T=0.170
The Genome Aggregation DatabaseEast AsianSub1622C=0.991T=0.009
The Genome Aggregation DatabaseEuropeSub18476C=0.886T=0.113
The Genome Aggregation DatabaseGlobalStudy-wide29968C=0.914T=0.085
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.926T=0.073
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.905T=0.095
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
rs115959080.000859alcohol dependence21314694

eQTL of rs11595908 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 rs11595908 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 )
chr10126657241126657291E067-49385
chr10126657312126657352E067-49324
chr10126657474126657579E067-49097
chr10126657619126657682E067-48994
chr10126657941126658047E067-48629
chr10126659322126659375E067-47301
chr10126659422126659762E067-46914
chr10126659833126660298E067-46378
chr10126660504126660564E067-46112
chr10126666330126666469E067-40207
chr10126666509126666582E067-40094
chr10126666719126666894E067-39782
chr10126666995126667130E067-39546
chr10126667670126667710E067-38966
chr10126671882126672288E067-34388
chr10126672294126672428E067-34248
chr10126680803126681362E067-25314
chr10126681366126681604E067-25072
chr10126681683126681933E067-24743
chr10126681939126682051E067-24625
chr10126682104126682187E067-24489
chr10126682202126682264E067-24412
chr10126682309126682391E067-24285
chr10126682434126682493E067-24183
chr10126682528126682607E067-24069
chr10126682667126682916E067-23760
chr10126683285126683351E067-23325
chr10126683583126684012E067-22664
chr10126684069126684123E067-22553
chr10126688033126688781E067-17895
chr10126688820126690221E067-16455
chr10126690230126691330E067-15346
chr10126691489126691688E067-14988
chr10126691958126692049E067-14627
chr10126692175126692351E067-14325
chr10126692373126692433E067-14243
chr10126692439126692728E067-13948
chr10126692864126692949E067-13727
chr10126693092126693150E067-13526
chr10126693235126693420E067-13256
chr10126693487126693564E067-13112
chr10126693751126693829E067-12847
chr10126693985126694112E067-12564
chr10126694157126694222E067-12454
chr10126694329126694409E067-12267
chr10126694516126694715E067-11961
chr10126694737126694837E067-11839
chr10126694948126695176E067-11500
chr10126695238126695373E067-11303
chr10126695417126696506E067-10170
chr10126696831126697472E067-9204
chr10126697751126698783E067-7893
chr10126698836126698939E067-7737
chr10126698955126699373E067-7303
chr10126703051126705935E067-741
chr10126706264126706371E067-305
chr10126706402126706610E067-66
chr10126706664126706816E0670
chr10126707220126707390E067544
chr10126707436126707527E067760
chr10126707606126707739E067930
chr10126707778126707954E0671102
chr10126708070126708306E0671394
chr10126708466126708528E0671790
chr10126708692126708746E0672016
chr10126709028126709298E0672352
chr10126709307126709478E0672631
chr10126710634126710834E0673958
chr10126710905126711130E0674229
chr10126711171126711290E0674495
chr10126711439126711556E0674763
chr10126711569126711687E0674893
chr10126711729126713643E0675053
chr10126713726126713784E0677050
chr10126713898126714541E0677222
chr10126716452126716876E0679776
chr10126716898126716953E06710222
chr10126716968126717455E06710292
chr10126723372126724386E06716696
chr10126724598126724777E06717922
chr10126724871126724965E06718195
chr10126725118126725168E06718442
chr10126725291126725513E06718615
chr10126727136126728378E06720460
chr10126736553126737479E06729877
chr10126737550126737600E06730874
chr10126742956126743011E06736280
chr10126743106126743607E06736430
chr10126743613126743811E06736937
chr10126743838126743925E06737162
chr10126743946126744062E06737270
chr10126744089126744482E06737413
chr10126744802126747085E06738126
chr10126748325126751002E06741649
chr10126751006126751133E06744330
chr10126751295126752458E06744619
chr10126752482126752564E06745806
chr10126752571126752671E06745895
chr10126752802126754409E06746126
chr10126658871126658965E068-47711
chr10126659072126659177E068-47499
chr10126659322126659375E068-47301
chr10126659422126659762E068-46914
chr10126659833126660298E068-46378
chr10126660504126660564E068-46112
chr10126660713126660786E068-45890
chr10126666330126666469E068-40207
chr10126666509126666582E068-40094
chr10126666719126666894E068-39782
chr10126666995126667130E068-39546
chr10126671718126671861E068-34815
chr10126671882126672288E068-34388
chr10126672294126672428E068-34248
chr10126680803126681362E068-25314
chr10126681366126681604E068-25072
chr10126681683126681933E068-24743
chr10126681939126682051E068-24625
chr10126682104126682187E068-24489
chr10126682202126682264E068-24412
chr10126682309126682391E068-24285
chr10126682434126682493E068-24183
chr10126682528126682607E068-24069
chr10126682667126682916E068-23760
chr10126682928126682982E068-23694
chr10126683583126684012E068-22664
chr10126684069126684123E068-22553
chr10126684204126684391E068-22285
chr10126687454126687514E068-19162
chr10126687571126687668E068-19008
chr10126687689126687835E068-18841
chr10126688033126688781E068-17895
chr10126688820126690221E068-16455
chr10126690230126691330E068-15346
chr10126692439126692728E068-13948
chr10126692864126692949E068-13727
chr10126693092126693150E068-13526
chr10126693235126693420E068-13256
chr10126693487126693564E068-13112
chr10126693751126693829E068-12847
chr10126693985126694112E068-12564
chr10126694114126694154E068-12522
chr10126694157126694222E068-12454
chr10126694329126694409E068-12267
chr10126694516126694715E068-11961
chr10126694737126694837E068-11839
chr10126694948126695176E068-11500
chr10126695238126695373E068-11303
chr10126695417126696506E068-10170
chr10126697751126698783E068-7893
chr10126698836126698939E068-7737
chr10126698955126699373E068-7303
chr10126703051126705935E068-741
chr10126706264126706371E068-305
chr10126706402126706610E068-66
chr10126706664126706816E0680
chr10126707220126707390E068544
chr10126707436126707527E068760
chr10126707606126707739E068930
chr10126707778126707954E0681102
chr10126708070126708306E0681394
chr10126710634126710834E0683958
chr10126710905126711130E0684229
chr10126711171126711290E0684495
chr10126711439126711556E0684763
chr10126711569126711687E0684893
chr10126711729126713643E0685053
chr10126718719126718799E06812043
chr10126718843126718920E06812167
chr10126724598126724777E06817922
chr10126724871126724965E06818195
chr10126725118126725168E06818442
chr10126725291126725513E06818615
chr10126725731126726318E06819055
chr10126726680126726736E06820004
chr10126726900126726992E06820224
chr10126727041126727114E06820365
chr10126727136126728378E06820460
chr10126730694126730994E06824018
chr10126732473126732668E06825797
chr10126732725126733157E06826049
chr10126733235126733322E06826559
chr10126733419126733469E06826743
chr10126733547126733854E06826871
chr10126736553126737479E06829877
chr10126737550126737600E06830874
chr10126737666126738316E06830990
chr10126738482126738543E06831806
chr10126738546126738608E06831870
chr10126738662126738712E06831986
chr10126738872126738950E06832196
chr10126739012126739291E06832336
chr10126740436126740756E06833760
chr10126740977126741059E06834301
chr10126741067126741207E06834391
chr10126741223126741379E06834547
chr10126741380126741894E06834704
chr10126742010126742142E06835334
chr10126742193126742367E06835517
chr10126742387126742471E06835711
chr10126742718126742814E06836042
chr10126742915126742955E06836239
chr10126742956126743011E06836280
chr10126743106126743607E06836430
chr10126743613126743811E06836937
chr10126743838126743925E06837162
chr10126743946126744062E06837270
chr10126744089126744482E06837413
chr10126747174126747218E06840498
chr10126747234126747278E06840558
chr10126747515126747565E06840839
chr10126747589126747812E06840913
chr10126747910126747957E06841234
chr10126748094126748244E06841418
chr10126748325126751002E06841649
chr10126751006126751133E06844330
chr10126751295126752458E06844619
chr10126752802126754409E06846126
chr10126657474126657579E069-49097
chr10126657619126657682E069-48994
chr10126659072126659177E069-47499
chr10126659322126659375E069-47301
chr10126659422126659762E069-46914
chr10126659833126660298E069-46378
chr10126660504126660564E069-46112
chr10126660713126660786E069-45890
chr10126666330126666469E069-40207
chr10126666509126666582E069-40094
chr10126666719126666894E069-39782
chr10126666995126667130E069-39546
chr10126671882126672288E069-34388
chr10126672294126672428E069-34248
chr10126680803126681362E069-25314
chr10126681366126681604E069-25072
chr10126681683126681933E069-24743
chr10126681939126682051E069-24625
chr10126682104126682187E069-24489
chr10126682202126682264E069-24412
chr10126682309126682391E069-24285
chr10126682434126682493E069-24183
chr10126682528126682607E069-24069
chr10126682667126682916E069-23760
chr10126682928126682982E069-23694
chr10126683100126683200E069-23476
chr10126683285126683351E069-23325
chr10126683583126684012E069-22664
chr10126684069126684123E069-22553
chr10126684204126684391E069-22285
chr10126684403126684605E069-22071
chr10126687454126687514E069-19162
chr10126687571126687668E069-19008
chr10126687689126687835E069-18841
chr10126688033126688781E069-17895
chr10126688820126690221E069-16455
chr10126690230126691330E069-15346
chr10126691489126691688E069-14988
chr10126691958126692049E069-14627
chr10126692175126692351E069-14325
chr10126692373126692433E069-14243
chr10126692439126692728E069-13948
chr10126692864126692949E069-13727
chr10126693092126693150E069-13526
chr10126694737126694837E069-11839
chr10126694948126695176E069-11500
chr10126695238126695373E069-11303
chr10126695417126696506E069-10170
chr10126696831126697472E069-9204
chr10126697539126697739E069-8937
chr10126697751126698783E069-7893
chr10126698836126698939E069-7737
chr10126698955126699373E069-7303
chr10126702580126702735E069-3941
chr10126702755126702904E069-3772
chr10126703051126705935E069-741
chr10126706264126706371E069-305
chr10126706402126706610E069-66
chr10126706664126706816E0690
chr10126707220126707390E069544
chr10126707436126707527E069760
chr10126707606126707739E069930
chr10126707778126707954E0691102
chr10126708070126708306E0691394
chr10126708466126708528E0691790
chr10126708692126708746E0692016
chr10126709028126709298E0692352
chr10126709731126709864E0693055
chr10126710634126710834E0693958
chr10126710905126711130E0694229
chr10126711171126711290E0694495
chr10126711439126711556E0694763
chr10126711569126711687E0694893
chr10126713726126713784E0697050
chr10126716452126716876E0699776
chr10126716898126716953E06910222
chr10126716968126717455E06910292
chr10126723372126724386E06916696
chr10126724598126724777E06917922
chr10126724871126724965E06918195
chr10126725118126725168E06918442
chr10126725291126725513E06918615
chr10126725731126726318E06919055
chr10126726680126726736E06920004
chr10126726900126726992E06920224
chr10126727041126727114E06920365
chr10126727136126728378E06920460
chr10126733235126733322E06926559
chr10126735287126735413E06928611
chr10126735510126735554E06928834
chr10126735712126735766E06929036
chr10126736052126736175E06929376
chr10126736553126737479E06929877
chr10126737550126737600E06930874
chr10126740436126740756E06933760
chr10126740977126741059E06934301
chr10126741067126741207E06934391
chr10126741223126741379E06934547
chr10126741380126741894E06934704
chr10126742010126742142E06935334
chr10126742193126742367E06935517
chr10126742387126742471E06935711
chr10126742718126742814E06936042
chr10126742915126742955E06936239
chr10126742956126743011E06936280
chr10126743106126743607E06936430
chr10126743613126743811E06936937
chr10126743838126743925E06937162
chr10126743946126744062E06937270
chr10126744089126744482E06937413
chr10126744802126747085E06938126
chr10126747174126747218E06940498
chr10126747234126747278E06940558
chr10126747910126747957E06941234
chr10126748094126748244E06941418
chr10126748325126751002E06941649
chr10126751006126751133E06944330
chr10126751295126752458E06944619
chr10126683583126684012E070-22664
chr10126684069126684123E070-22553
chr10126687454126687514E070-19162
chr10126687571126687668E070-19008
chr10126687689126687835E070-18841
chr10126688033126688781E070-17895
chr10126688820126690221E070-16455
chr10126690230126691330E070-15346
chr10126693235126693420E070-13256
chr10126693487126693564E070-13112
chr10126693751126693829E070-12847
chr10126693985126694112E070-12564
chr10126694114126694154E070-12522
chr10126694157126694222E070-12454
chr10126694329126694409E070-12267
chr10126694516126694715E070-11961
chr10126694737126694837E070-11839
chr10126694948126695176E070-11500
chr10126695238126695373E070-11303
chr10126695417126696506E070-10170
chr10126697751126698783E070-7893
chr10126706264126706371E070-305
chr10126706402126706610E070-66
chr10126710041126710380E0703365
chr10126710412126710555E0703736
chr10126710634126710834E0703958
chr10126710905126711130E0704229
chr10126711171126711290E0704495
chr10126711439126711556E0704763
chr10126711569126711687E0704893
chr10126713726126713784E0707050
chr10126713898126714541E0707222
chr10126716452126716876E0709776
chr10126716898126716953E07010222
chr10126716968126717455E07010292
chr10126717522126717616E07010846
chr10126717804126717884E07011128
chr10126718118126718646E07011442
chr10126718719126718799E07012043
chr10126718843126718920E07012167
chr10126719124126719249E07012448
chr10126719276126719366E07012600
chr10126719390126719685E07012714
chr10126719806126719856E07013130
chr10126720090126720169E07013414
chr10126720251126720431E07013575
chr10126720436126720480E07013760
chr10126720938126721003E07014262
chr10126721095126721201E07014419
chr10126721245126721305E07014569
chr10126721680126721752E07015004
chr10126721851126722048E07015175
chr10126723179126723315E07016503
chr10126723372126724386E07016696
chr10126724598126724777E07017922
chr10126724871126724965E07018195
chr10126725118126725168E07018442
chr10126725291126725513E07018615
chr10126725731126726318E07019055
chr10126728410126728467E07021734
chr10126728510126728684E07021834
chr10126728926126728970E07022250
chr10126729359126729409E07022683
chr10126729598126729668E07022922
chr10126730021126730387E07023345
chr10126730444126730484E07023768
chr10126730574126730670E07023898
chr10126730694126730994E07024018
chr10126731093126731682E07024417
chr10126736553126737479E07029877
chr10126737550126737600E07030874
chr10126737666126738316E07030990
chr10126739012126739291E07032336
chr10126739299126739388E07032623
chr10126739418126739462E07032742
chr10126739471126739525E07032795
chr10126739548126739592E07032872
chr10126744802126747085E07038126
chr10126747174126747218E07040498
chr10126748325126751002E07041649
chr10126756403126756551E07049727
chr10126756571126756631E07049895
chr10126657241126657291E071-49385
chr10126657312126657352E071-49324
chr10126657474126657579E071-49097
chr10126657619126657682E071-48994
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