DGCR2

Basic Information
Gene SymbolDGCR2
Entrez Id9993
Positionchr22:19023795..19109967
DescriptionDiGeorge syndrome critical region gene 2
Gene typeprotein-coding
SNP Information

SNPPositionAlelleGeneAnnotationInfoOrSeP-valueeQTLScore*
rs100189622:19032215A/GDGCR2intron0.9971.032620.01360.018065
rs103472722:19097700T/CDGCR2intron1.0001.020300.01200.094694
rs103472822:19097839T/CDGCR2intron1.0101.014200.01340.29243a
rs1048310022:19085202T/CDGCR2intron1.0100.986790.01340.3187
rs1054134122:19027412D/I4DGCR2intron1.0101.016430.01340.2211-
rs1085453922:19037734A/GDGCR2intron,near-gene-50.9971.023570.02120.27227
rs11133074222:19096673T/CDGCR2intron0.9950.967350.01640.043755
rs11134920422:19077038A/GDGCR2intron0.9420.985210.04700.75035
rs11137886222:19083349I2/DDGCR2intron0.9420.984720.04700.7425-
rs11161650122:19060335A/GDGCR2intron0.9430.986490.04730.77287
rs11168071622:19061356A/CDGCR2intron0.9361.015320.04790.75182b
rs11168778122:19060779T/CDGCR2intron0.7070.995510.04770.92465
rs11169630222:19077445T/CDGCR2intron1.0100.985110.01340.26196
rs11171499222:19071377A/GDGCR2intron0.9151.028400.01160.015616
rs11172456922:19037069A/GDGCR2intron,near-gene-50.9430.991640.04730.85957
rs11175923322:19094653D/I4DGCR2intron0.9440.992530.04600.8709-
rs11189174822:19047047A/GDGCR2intron0.9420.989060.04730.81585
rs11198397722:19026813D/I3DGCR2intron0.9400.990740.04700.8431-
rs11203041722:19079369T/CDGCR2intron0.9850.975020.03150.42157
rs11203069422:19039036T/CDGCR2intron0.9421.008740.04730.85394
rs11248277222:19080605A/GDGCR2intron0.9850.975020.03150.42147
rs11250209822:19061351A/CDGCR2intron0.9411.012480.04600.78752b
rs11252967622:19077613A/GDGCR2intron0.9850.975410.03150.42826
rs11265534822:19071219T/CDGCR2intron0.8791.030250.01700.086
rs11278464822:19026356A/GDGCR2ncRNA,untranslated-30.9410.992530.04730.87365
rs11281919222:19025082T/CDGCR2ncRNA,untranslated-30.6630.969280.05690.58333a
rs11285819222:19040291I2/DDGCR2intron0.9810.978630.03160.4947-
rs11296464322:19042267A/GDGCR2intron0.8121.006720.04490.8826
rs11313946922:19042693T/GDGCR2intron0.9591.027570.03130.38566
rs11332339422:19059888T/CDGCR2intron0.7641.075620.03380.030966
rs11345389222:19099720A/GDGCR2intron0.9900.980490.01490.18676
rs11371072122:19069697D/I4DGCR2intron0.9971.033140.01360.01642-
rs11382402322:19063654D/I6DGCR2intron0.9760.973360.01080.01281-
rs11383214622:19061331T/CDGCR2intron0.9420.984620.04700.74164
rs11387516622:19085980T/CDGCR2intron0.9130.982850.04660.71035
rs11713518322:19079916C/GDGCR2intron0.9470.968700.04380.4695
rs11718648722:19091086T/CDGCR2intron1.0101.013390.01340.32117
rs11722091622:19039727T/CDGCR2intron0.9040.962420.04340.37795
rs11723248722:19101851T/CDGCR2intron0.9450.965990.04390.43017
rs11729067622:19059652A/GDGCR2intron0.9581.013190.02340.57496
rs11729090822:19107799T/CDGCR2intron0.9380.965320.04380.42085
rs11734906022:19055451A/GDGCR2intron0.9280.968020.04270.44675
rs11735289922:19062020A/GDGCR2intron0.7111.003510.04190.93355
rs11744773022:19027100T/CDGCR2intron0.9430.972390.04400.52525
rs11745574822:19024132A/GDGCR2ncRNA,untranslated-30.9310.974340.04440.55794
rs11749667522:19030887C/GDGCR2intron0.9430.972390.04400.5255
rs11751031722:19065242T/CDGCR2intron0.6901.098670.06190.12837
rs11755861822:19058327T/CDGCR2intron0.9291.034580.04260.42577
rs11758039822:19059869T/CDGCR2intron0.6591.063960.06670.35247
rs11763617722:19043109T/CDGCR2intron0.9451.030560.04390.49286
rs11783937822:19061237T/GDGCR2intron0.9291.034580.04260.42555
rs11795778022:19030719A/GDGCR2intron0.7610.992930.05050.8895
rs11798984522:19059367A/CDGCR2intron0.9291.034580.04260.42567
rs11803670222:19030578T/GDGCR2intron0.9430.972390.04400.5255
rs11805923222:19051371C/GDGCR2intron0.7881.047280.05250.37945
rs11808222722:19062060T/CDGCR2intron0.7680.989260.05040.83015
rs11809627422:19076575A/CDGCR2intron0.7271.012980.05710.82077
rs11813572122:19040706A/GDGCR2intron0.7231.038730.05990.52546
rs11818394922:19048531A/GDGCR2intron0.7880.954760.05250.37817
rs11818910022:19079397A/GDGCR2intron0.9471.032310.04380.46897
rs1191229022:19040446T/CDGCR2intron0.9971.023570.02120.27337
rs1191240722:19063374A/GDGCR2intron0.9971.034380.01360.012946
rs1191304022:19063304T/CDGCR2intron0.9970.969180.01090.004147
rs1191336622:19052189T/CDGCR2intron0.9981.022040.02120.30385
rs13888663922:19090007T/CDGCR2intron0.7180.992430.05110.8814-
rs13890614622:19047341T/GDGCR2intron0.9441.027980.04380.5282-
rs14036876122:19048065C/GDGCR2intron0.7880.954760.05250.3782-
rs14051991122:19080383T/GDGCR2intron0.6981.136210.07150.07421-
rs14214863422:19081893A/GDGCR2intron0.6601.070580.05100.1814-
rs14218638522:19079718A/GDGCR2intron0.6061.095490.04890.06243-
rs14349676622:19099647A/GDGCR2intron1.0101.014000.01340.2984-
rs14360615622:19075564T/CDGCR2intron0.7790.949230.05230.3193-
rs14396021822:19047396A/CDGCR2intron0.9450.970250.04390.4912-
rs14427693322:19101332A/GDGCR2intron0.8620.965700.04610.4491-
rs14454607722:19087252A/GDGCR2intron0.9470.968700.04380.4687-
rs14635120422:19081916T/CDGCR2intron0.9470.968700.04380.4689-
rs14715059222:19087210A/GDGCR2intron1.0101.013080.01340.3307-
rs155784422:19052972T/CDGCR2intron1.0000.972680.01070.0095275
rs155784522:19053016A/GDGCR2intron1.0000.972680.01070.0095085
rs155784622:19055459A/GDGCR2intron1.0001.014710.01340.27585
rs155784722:19062353A/GDGCR2intron0.9950.969480.01090.0044966
rs1774343222:19031614T/CDGCR2intron0.9950.984230.01350.2415
rs1774344422:19036232A/GDGCR2intron,near-gene-51.0100.984520.01340.24446
rs1774357622:19055542T/CDGCR2intron0.9720.961850.01570.013165
rs1774364222:19084555A/GDGCR2intron1.0100.986990.01340.32966
rs1781073922:19049657T/CDGCR2intron0.9990.981380.01360.16835
rs1781076822:19054036T/CDGCR2intron0.9881.032830.01640.048165
rs1781078022:19054293T/CDGCR2intron1.0000.985010.01340.26275
rs18123079422:19071209A/CDGCR2intron0.7360.992730.04520.8723-
rs18343391022:19072483A/GDGCR2intron0.9631.030870.01710.0752-
rs18447376722:19065886A/GDGCR2intron0.9291.034580.04260.4254-
rs18501970322:19091114T/CDGCR2intron0.6210.912200.06010.1266-
rs19089109822:19072310A/CDGCR2intron0.6391.043940.04150.2999-
rs193489522:19080150A/GDGCR2intron0.9650.973750.02120.20946
rs193695222:19099813A/CDGCR2intron0.9300.978340.01300.09126
rs193695322:19099552C/GDGCR2intron0.9840.979900.01210.092737
rs193695422:19098229A/GDGCR2intron1.0100.987080.01340.33227
rs202779422:19073763A/GDGCR2intron0.9490.967440.01130.0034545
rs202779522:19073924A/GDGCR2intron0.9840.968800.01100.0039426
rs205775422:19037535T/CDGCR2intron,near-gene-51.0000.986000.01340.29037
rs206624022:19097437A/GDGCR2intron0.9981.033760.01640.04284
rs207212322:19026613A/GDGCR2ncRNA,missense1.0000.970350.01090.0055595
rs207377422:19028480T/CDGCR2intron0.9970.970060.01090.0053065
rs207377522:19028476T/CDGCR2intron0.9970.973170.01070.011185
rs207377622:19024651T/CDGCR2ncRNA,untranslated-30.8641.022240.01210.068611f
rs207400322:19036739C/GDGCR2intron,near-gene-51.0001.031590.01090.0042557
rs207400422:19036479T/CDGCR2intron,near-gene-50.9991.028290.01070.0090947
rs209605422:19095688A/GDGCR2intron1.0001.026340.01070.015237
rs209605522:19095664A/TDGCR2intron0.9980.973750.01070.013087
rs209637722:19098259T/GDGCR2intron1.0000.970450.01090.0057987
rs210542122:19097680C/GDGCR2intron1.0001.031590.01080.0041064
rs210729722:19046943A/TDGCR2intron0.9971.033240.01360.015795
rs210729822:19047207C/GDGCR2intron0.9941.035000.01640.035235
rs210729922:19062885A/GDGCR2intron0.9981.031490.01090.004376
rs215360422:19081239A/GDGCR2intron1.0000.971030.01090.0067757
rs215418822:19092222C/GDGCR2intron0.9980.967150.01360.014095
rs215833522:19088607C/GDGCR2intron1.0000.974630.01070.016287
rs218949022:19094165T/CDGCR2intron1.0001.026240.01070.015435
rs218949122:19094327A/TDGCR2intron1.0000.970740.01090.0062815
rs223873622:19046735A/GDGCR2intron1.0000.968410.01080.0030175
rs223873722:19047579T/CDGCR2intron1.0101.016640.01340.2175
rs223873822:19047776A/CDGCR2intron0.9961.032930.01360.016815
rs223873922:19048413A/GDGCR2intron0.9990.971610.01070.0071277
rs223874022:19048449A/GDGCR2intron1.0101.020200.01350.13837
rs223874322:19049602T/GDGCR2intron1.0000.971030.01070.0059225
rs223874422:19049871A/GDGCR2intron0.9991.019900.01360.14765
rs223874522:19050007T/CDGCR2intron0.9971.030040.01070.0056925
rs223874622:19050010A/GDGCR2intron0.9880.967640.01360.015195
rs223874722:19050110A/GDGCR2intron0.9920.966760.01090.0019343a
rs223874822:19051381T/CDGCR2intron0.9980.968700.01080.0032865
rs223874922:19053406T/GDGCR2intron1.0001.028090.01070.0095215
rs223875022:19057723A/GDGCR2intron0.9980.968890.01080.0034815
rs223875122:19057790A/GDGCR2intron1.0101.014200.01340.29285
rs223875222:19057859T/CDGCR2intron1.0001.027370.01070.011615
rs223875322:19057886T/CDGCR2intron1.0100.986000.01340.29495
rs223875422:19058146T/CDGCR2intron0.7380.999700.02130.98762b
rs223875522:19074753T/CDGCR2intron1.0000.970830.01090.0063963a
rs223875722:19104324T/CDGCR2intron1.0001.013390.01340.31915
rs223875822:19104535T/GDGCR2intron1.0001.014610.01340.27795
rs223939622:19053290C/GDGCR2intron0.9990.969180.01090.004015
rs228364122:19027597T/CDGCR2intron0.9981.032210.01080.0034425
rs252503422:19080300T/CDGCR2intron0.9980.971420.01090.0075767
rs252503522:19082346T/CDGCR2intron1.0000.975110.01070.018387
rs252503622:19082535T/CDGCR2intron1.0000.971420.01090.0075476
rs252503722:19083678T/CDGCR2intron1.0000.971320.01090.0075426
rs252503922:19090267C/GDGCR2intron1.0001.029940.01090.0067457
rs252507622:19100743T/CDGCR2intron0.9940.974820.01070.016877
rs252507922:19098966T/CDGCR2intron1.0000.980390.01200.099544
rs279306322:19087067A/GDGCR2intron1.0000.970930.01090.0067175
rs279306422:19084689A/GDGCR2intron1.0001.029420.01090.0075625
rs279306722:19081810A/GDGCR2intron0.9871.026650.02190.22927
rs279306922:19080899A/CDGCR2intron0.9921.031900.01080.0038036
rs279307022:19079608A/CDGCR2intron0.9881.026240.02190.23746
rs279307222:19079058A/GDGCR2intron1.0001.029730.01090.0070277
rs279307322:19078762T/CDGCR2intron1.0001.029730.01090.0070627
rs279307422:19078675A/CDGCR2intron0.9991.020810.02140.33596
rs279307522:19078607A/CDGCR2intron1.0001.029630.01090.0072535
rs280095422:19086183A/GDGCR2intron1.0001.029730.01090.0070185
rs280095822:19086520T/CDGCR2intron1.0000.970930.01090.0066855
rs280095922:19086904C/GDGCR2intron1.0000.974630.01070.016055
rs280096022:19077049T/CDGCR2intron0.9221.017250.01860.35715
rs280096122:19087939T/CDGCR2intron1.0001.021830.02140.31247
rs280096422:19089187A/GDGCR2intron0.9961.031180.01090.0049037
rs280096622:19090070T/CDGCR2intron0.9961.031070.01090.0050576
rs280096722:19090249T/CDGCR2intron0.9940.971610.01090.008347
rs280096822:19090370T/GDGCR2intron1.0000.978440.02140.30776
rs280096922:19077594T/CDGCR2intron0.9971.032100.01360.019827
rs280097022:19093033T/CDGCR2intron0.9930.972000.01090.0093917
rs280097122:19093047T/CDGCR2intron0.9910.975020.01080.018827
rs280097222:19093085A/GDGCR2intron0.9940.975600.01070.021617
rs280098022:19077927T/CDGCR2intron0.9991.030660.01080.0052347
rs280098122:19098642A/GDGCR2intron1.0001.026240.01070.015455
rs280098422:19100547A/GDGCR2intron0.9060.981570.02060.36687
rs280098522:19078409T/CDGCR2intron1.0001.029630.01090.0072895
rs280098622:19100777A/GDGCR2intron0.9951.025520.02130.23667
rs280099022:19080674A/GDGCR2intron1.0000.971030.01090.0067747
rs2861587322:19068227T/CDGCR2intron0.9990.969480.01090.0044277
rs3485265022:19026480C/GDGCR2coding-synon,ncRNA0.9431.028400.04400.52515
rs396007022:19072482T/CDGCR2intron0.9120.973560.01150.019286
rs4127758822:19026294A/GDGCR2ncRNA,untranslated-30.9431.028400.04400.52485
rs4547259222:19044367A/TDGCR2intron0.9450.970250.04390.49216
rs4551179322:19051008A/CDGCR2intron0.9881.035210.01630.033916
rs5816825822:19053477T/GDGCR2intron0.9410.987780.04700.79345
rs5832165922:19045726T/CDGCR2intron0.9860.975310.03110.4215
rs5843969422:19093874A/GDGCR2intron0.9880.974430.03150.41092b
rs5864820322:19087221T/CDGCR2intron0.9420.984720.04700.74227
rs5870037122:19041740I2/DDGCR2intron0.9971.033760.01360.01433-
rs5899606722:19028242D/I4DGCR2intron0.9931.032620.01640.0498-
rs5907332622:19086954T/CDGCR2intron0.9421.015520.04690.74255
rs5978165522:19078592I2/DDGCR2intron0.9971.025830.01070.01733-
rs5983743422:19074594A/GDGCR2intron0.9931.035930.01630.030162b
rs5990359922:19047369A/CDGCR2intron0.9941.034170.01640.039725
rs599235622:19041699A/GDGCR2intron0.9971.033240.01360.015847
rs599348122:19039758A/GDGCR2intron0.9900.975990.01080.024225
rs599348922:19051362A/GDGCR2intron1.0101.024290.02100.25495
rs599349322:19056979T/CDGCR2intron0.9981.031380.01090.0045185
rs599349622:19058752A/GDGCR2intron0.9790.974340.02160.22777
rs599352422:19083107C/GDGCR2intron0.9901.029320.01090.0080987
rs6031755722:19070433T/CDGCR2intron0.9960.967350.01640.04247
rs6071240922:19030348T/CDGCR2intron0.9940.979900.02130.34075
rs6093374822:19031818T/CDGCR2intron0.9920.967830.01640.045525
rs6097001822:19090148A/GDGCR2intron0.9880.974530.03150.41377
rs6109965122:19046009A/GDGCR2intron0.9941.034270.01640.039375
rs6222171422:19040157A/GDGCR2intron0.9920.968310.01640.049187
rs6222171722:19048436A/GDGCR2intron0.9941.034270.01640.039167
rs6222172022:19061330T/CDGCR2intron0.9940.966280.01640.035964
rs6222172122:19064520A/GDGCR2intron0.9940.965120.01640.030687
rs6222174522:19067871T/CDGCR2intron0.9951.034690.01640.037737
rs6222174822:19077624T/CDGCR2intron0.9960.968800.01640.053036
rs6222175022:19083557T/CDGCR2intron0.9970.968800.01640.052445
rs6222175222:19088694T/CDGCR2intron0.9970.967830.01640.045966
rs6222175422:19093439A/GDGCR2intron0.9951.034070.01640.041947
rs6222175522:19104950C/GDGCR2intron0.9940.969180.01640.056455
rs6222175622:19105273T/CDGCR2intron0.9830.982460.01450.22176
rs651851522:19030007A/GDGCR2intron1.0000.970250.01090.0054295
rs651851622:19030113A/GDGCR2intron1.0000.970250.01090.0054435
rs651851722:19030336A/GDGCR2intron1.0000.970350.01090.0055735
rs651851822:19038847T/CDGCR2intron1.0001.031490.01090.0042946
rs651852222:19056915A/GDGCR2intron1.0100.985900.01340.2895
rs6690738822:19080501D/I6DGCR2intron0.9721.030870.01110.00615-
rs6748198322:19092416D/I4DGCR2intron0.9871.034170.01660.04274-
rs6811586922:19099368I2/DDGCR2intron0.9590.975990.01240.05093-
rs6814373322:19099372I2/DDGCR2intron0.9600.970350.01110.006592-
rs728658122:19060412A/TDGCR2intron0.9431.010660.01370.44186
rs728918022:19065765A/GDGCR2intron1.0001.013690.01340.31326
rs7315729322:19039491A/GDGCR2intron1.0101.016130.01340.23255
rs7315729422:19040409T/CDGCR2intron1.0101.015320.01340.25746
rs7315729622:19045932A/TDGCR2intron1.0000.982060.01340.17715
rs7315729722:19046788T/CDGCR2intron0.7771.052640.03090.096885
rs7315880822:19054160C/GDGCR2intron1.0001.014910.01350.27185
rs7315881822:19058547T/CDGCR2intron1.0101.014100.01340.29597
rs7315882022:19059278T/CDGCR2intron1.0101.015210.01340.26067
rs7315882222:19062254T/CDGCR2intron1.0100.984820.01340.25526
rs7315882722:19064971A/TDGCR2intron1.0101.015420.01340.25517
rs7315883222:19070439A/GDGCR2intron0.9681.017860.01330.1827
rs7315883322:19072896C/GDGCR2intron0.9951.032100.01640.053542c
rs7315883522:19074201A/GDGCR2intron1.0101.015010.01340.26395
rs7315883722:19076797A/CDGCR2intron1.0001.014400.01340.28696
rs7315883922:19079479C/GDGCR2intron1.0101.013690.01340.31116
rs7315884322:19084036T/CDGCR2intron0.9970.968800.01640.052496
rs7315884622:19085596A/TDGCR2intron0.9851.033240.01660.048786
rs7315885622:19093158A/GDGCR2intron0.9970.967250.01640.042157
rs7315885922:19096828T/CDGCR2intron0.9970.967250.01640.04255
rs7338482322:19026332A/GDGCR2ncRNA,untranslated-30.9401.009340.04700.84275
rs7338691922:19051996C/GDGCR2intron0.9021.021530.04630.64525
rs7338692922:19056297A/GDGCR2intron0.9420.985010.04700.74715
rs7338693422:19056598A/GDGCR2intron0.9420.984720.04700.7435
rs7338698822:19074813T/CDGCR2intron0.9421.015010.04700.75025
rs7338699022:19074844C/GDGCR2intron0.9420.985210.04700.75045
rs7338872322:19086768A/GDGCR2intron0.9851.025620.03150.42132b
rs7338873522:19093619A/GDGCR2intron0.9880.974430.03150.41137
rs7470890222:19071192T/CDGCR2intron0.9570.969670.01680.066447
rs80774022:19102582C/GDGCR2intron1.0001.020000.01200.099664
rs80774122:19103298T/GDGCR2intron0.9150.987280.01920.5043a
rs80774422:19104186A/TDGCR2intron0.9980.978630.01190.069525
rs80774722:19104926C/GDGCR2intron0.9940.975900.02150.25585
rs80774922:19105966T/GDGCR2intron0.9951.030350.01090.0061174
rs80775122:19107596A/GDGCR2intron0.9900.975410.01070.019835
rs80775222:19108098T/GDGCR2intron0.9921.032830.01370.018055
rs80775322:19108548T/CDGCR2intron0.9930.970450.01090.0056684
rs813530822:19087915T/GDGCR2intron1.0100.986000.01340.29197
rs813803522:19040775A/GDGCR2intron1.0000.969090.01090.0039127
rs813848222:19070343T/CDGCR2intron0.9961.030560.01080.0054316
rs814158322:19040808A/TDGCR2intron0.9971.023060.02130.28325
rs839922:19025330A/CDGCR2ncRNA,untranslated-31.0000.984910.01340.25735
rs91694522:19069022A/TDGCR2intron1.0101.015110.01340.26154
rs960593222:19071989T/CDGCR2intron0.7240.991640.01670.61267
rs960593822:19091096T/CDGCR2intron0.6000.976580.04080.56226
rs961776522:19050878A/GDGCR2intron1.0000.972580.01070.0091887
rs961845222:19027129T/CDGCR2intron0.9941.022040.02130.30535
rs961845322:19028320C/GDGCR2intron1.0000.969480.01080.0041185
rs978991622:19096531A/GDGCR2intron1.0101.014000.01340.29742b
rs978994422:19100955A/CDGCR2intron1.0101.014100.01340.29467
SNPPositionAlelleGeneAnnotationInfoOrSeP-valueeQTLScore*

  Note: RegulomeDB score*
score supporting data score supporting data
1aeQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak6other
2aTF binding + matched TF motif + matched DNase Footprint + DNase peak5TF binding or DNase peak
1beQTL + TF binding + any motif + DNase Footprint + DNase peak4TF binding + DNase peak
2bTF binding + any motif + DNase Footprint + DNase peak3bTF binding + matched TF motif
1ceQTL + TF binding + matched TF motif + DNase peak1feQTL + TF binding / DNase peak
2cTF binding + matched TF motif + DNase peak3aTF binding + any motif + DNase peak
1deQTL + TF binding + any motif + DNase peak1eeQTL + TF binding + matched TF motif
CNV Information
ReferenceStudy typeSample size
18511947GWAS 359 cases; 718 controls
19181681GWAS471 cases; 2792 controls
ReferenceStudy typeSample size
eQTL Information