DFNA5

Basic Information
Gene SymbolDFNA5
Entrez Id1687
Positionchr7:24737974..24797639
Descriptiondeafness, autosomal dominant 5
Gene typeprotein-coding
SNP Information

SNPPositionAlelleGeneAnnotationInfoOrSeP-valueeQTLScore*
rs10014647:24769089A/GDFNA5intron0.9991.041230.01780.022734
rs10018217:24796541C/GDFNA5intron0.9621.005520.01450.70512b
rs102355277:24789449A/GDFNA5intron1.0000.994420.01540.71667
rs102698197:24761117A/GDFNA5intron0.9371.016430.03060.59445
rs102765207:24774895T/CDFNA5intron0.9860.990350.01520.52335
rs104864297:24743478A/GDFNA5intron1.0001.035210.02270.12817
rs104864307:24743653T/CDFNA5intron1.0000.965700.02270.12437
rs1113838727:24778113A/GDFNA5intron0.9971.077350.01645.798E-65
rs1132298697:24778617T/CDFNA5intron0.9920.988370.01540.44756
rs1141422257:24777873A/GDFNA5intron0.9981.077020.01646.252E-66
rs1148291107:24776761A/GDFNA5intron0.9961.077020.01646.209E-67
rs115091397:24781080A/GDFNA5intron0.9990.929040.01646.969E-61b
rs1160521267:24775514A/GDFNA5intron0.9851.070150.01550.000012357
rs1169440787:24794186T/CDFNA5intron0.7340.928670.06220.23435
rs1169976627:24776265A/GDFNA5intron0.9420.986990.03790.73077
rs1170065787:24762044A/GDFNA5intron0.8150.899510.03490.0024137
rs1170958547:24790358T/CDFNA5intron0.9050.969570.04140.45445
rs1172893717:24746592A/CDFNA5intron0.9850.966280.03590.33955
rs1173232497:24767769A/GDFNA5intron0.8060.859760.04700.0013166
rs1173291317:24793596A/TDFNA5intron0.9060.900770.04280.01455
rs1177120807:24765559A/GDFNA5intron0.8640.952470.03480.16184
rs1179159627:24769240T/CDFNA5intron0.9991.031900.02270.16744
rs1180397847:24763467A/GDFNA5intron0.8450.977650.05280.66935
rs121545977:24785882C/GDFNA5intron0.9960.925980.01642.863E-66
rs125304997:24757195T/CDFNA5intron0.9900.978730.01790.2297
rs125406997:24746247A/GDFNA5intron0.7860.927090.02260.00080335
rs125409197:24756951T/CDFNA5missense0.9900.976770.01790.19027
rs126658667:24787279C/GDFNA5intron0.9950.927190.01644.232E-65
rs126659747:24781824T/CDFNA5intron0.9991.073470.01640.000015111f
rs126690447:24762350T/CDFNA5intron0.9961.014300.01430.32116
rs127005457:24795019C/GDFNA5intron0.9741.001700.01400.90551b
rs129797:24738164C/GDFNA5untranslated-30.9980.942240.01580.00015747
rs1380814337:24742924T/CDFNA5intron0.9210.965700.04350.4231-
rs1387318997:24775318A/GDFNA5intron0.9871.079290.01664.362E-6-
rs1387599067:24739182T/CDFNA5intron1.0000.964930.02270.1158-
rs1388249377:24755863C/GDFNA5intron0.7950.905470.05870.09078-
rs1400515097:24750733A/GDFNA5intron1.0000.966280.02270.1314-
rs1403434717:24744897T/CDFNA5intron0.8281.014400.04940.7721-
rs1432442797:24765571A/GDFNA5intron0.9720.989160.04460.8063-
rs1436706777:24777227A/CDFNA5intron0.8731.048120.04990.347-
rs1441120387:24783713A/GDFNA5intron0.8951.040710.05170.4402-
rs1455682857:24770397A/GDFNA5intron0.8871.066840.04680.1668-
rs1461973837:24776030A/GDFNA5intron0.9970.929600.01649.026E-6-
rs1490673427:24794155T/CDFNA5intron0.6631.053480.04740.2725-
rs1502567597:24790060A/GDFNA5intron0.7960.932390.06200.2593-
rs1509287867:24765193T/GDFNA5intron0.9631.008030.03430.8158-
rs15443667:24758248A/GDFNA5intron0.9960.964350.01080.00079845
rs171499067:24741945A/CDFNA5intron0.9960.961850.02260.085066
rs171499127:24742436T/CDFNA5coding-synon0.9931.014710.01470.32037
rs171499437:24749199T/GDFNA5intron0.9870.985210.01530.33166
rs171499587:24751847T/CDFNA5intron0.9811.055270.02110.010881f
rs171499807:24757230A/GDFNA5intron0.9940.985210.01530.32936
rs171499907:24757797A/CDFNA5intron0.9920.985310.01530.3341d
rs171500227:24771777T/CDFNA5intron0.9880.927560.01644.512E-66
rs172088017:24739834T/CDFNA5intron1.0001.033450.02270.14815
rs172089397:24741727A/GDFNA5intron1.0001.035930.02270.12011b
rs172093247:24745475T/CDFNA5intron1.0000.966090.02270.12965
rs172094087:24746026T/CDFNA5intron0.7160.961080.04180.34165
rs172094877:24748320A/TDFNA5intron0.9970.966280.02270.13056
rs172095157:24748349C/GDFNA5intron0.9181.037690.01750.034296
rs172096557:24752061T/CDFNA5intron1.0001.034480.02270.13565
rs172745307:24738615A/GDFNA5untranslated-31.0001.033450.02270.14847
rs172745657:24739589C/GDFNA5intron1.0000.966090.02270.12936
rs172750477:24744784T/CDFNA5intron1.0001.035100.02270.12935
rs172750757:24744977C/GDFNA5intron1.0000.966090.02270.12937
rs172759957:24762039T/CDFNA5intron1.0001.028400.02280.21937
rs1814692677:24792632T/CDFNA5intron0.8920.932110.06090.2489-
rs1833702197:24780162A/GDFNA5intron0.9620.929690.04100.0751-
rs1858202247:24756382C/GDFNA5intron0.9910.965990.03580.3339-
rs1912638377:24745668C/GDFNA5intron0.8571.054640.05490.3327-
rs1915560837:24739159A/GDFNA5intron0.8041.094500.05590.1063-
rs1919429217:24759988T/CDFNA5intron0.6200.940450.05510.2649-
rs20237937:24759063A/GDFNA5intron0.9981.030150.01090.0066275
rs20741427:24742585T/CDFNA5intron0.9730.996710.01220.78592b
rs21580637:24777871A/GDFNA5intron0.9920.956480.01110.000064656
rs21888807:24795757T/CDFNA5intron0.9740.978930.02970.47244
rs22373067:24757202A/CDFNA5intron0.9991.055700.01470.00023617
rs22373077:24757660A/GDFNA5intron0.9891.013290.01100.22944
rs22373087:24759138A/GDFNA5intron0.9951.021630.01660.19555
rs22373097:24759377A/GDFNA5intron0.9931.025010.01660.13627
rs22373107:24759648A/CDFNA5intron0.9990.986390.01430.33686
rs22373117:24759945A/GDFNA5intron1.0001.053800.01470.00037175
rs22373127:24760039A/GDFNA5intron0.9990.955810.01110.000046223a
rs22373137:24760701A/GDFNA5intron0.9920.985110.01550.33516
rs22373157:24761850T/GDFNA5intron0.9931.030760.01110.0062976
rs22373167:24761968T/GDFNA5intron0.9941.051380.01290.00010336
rs22373187:24769278T/CDFNA5intron1.0001.050330.01130.000012671f
rs22373207:24770279C/GDFNA5intron0.9740.944690.01910.002866
rs22373217:24770694T/CDFNA5intron0.9910.963290.01370.0064327
rs22373227:24770740C/GDFNA5intron0.9940.957620.01110.00010226
rs22373237:24781561A/GDFNA5intron0.9990.987780.01520.42031f
rs22373247:24781792A/GDFNA5intron0.9990.986890.01230.28374
rs22400057:24742553A/GDFNA5intron0.9471.010660.01260.39912b
rs22481467:24791998T/CDFNA5intron0.9871.038520.01110.00069065
rs22481497:24791894T/CDFNA5intron0.9781.014710.02950.62145
rs22570617:24740177T/CDFNA5intron0.9890.954850.01110.000032921f
rs22698127:24746022A/GDFNA5intron0.9961.016640.01500.27081f
rs22829037:24750933T/CDFNA5intron0.9880.985110.01540.32797
rs22829047:24751958C/GDFNA5intron0.9890.984420.01540.30775
rs22829057:24792867A/GDFNA5intron0.9671.075950.04640.11447
rs22990987:24756377C/GDFNA5intron0.9911.040910.01330.0025215
rs25217537:24744424A/GDFNA5intron0.9871.032410.02160.13995
rs25217547:24747277C/GDFNA5intron0.9760.956090.01440.0018385
rs25217557:24749223T/CDFNA5intron0.9920.964540.01080.00088956
rs25217577:24761669A/GDFNA5intron0.9960.964450.01080.00084311f
rs25217587:24762292T/GDFNA5intron0.9961.036550.01080.00091777
rs25217597:24764655C/GDFNA5intron0.9930.964640.01090.00089685
rs25217607:24767483T/CDFNA5intron0.9951.054540.01540.00057885
rs25217617:24769958T/CDFNA5intron0.9940.963390.01370.0066186
rs25217627:24769991T/CDFNA5intron0.9941.038000.01370.0066327
rs25217637:24770653A/TDFNA5intron0.9951.046450.01110.000044846
rs25217647:24772114A/TDFNA5intron0.9850.963970.02150.087137
rs25217657:24772641C/GDFNA5intron0.9891.039980.01090.00032574
rs25217667:24772686T/GDFNA5intron0.9861.037800.02140.083345
rs25217687:24784403T/CDFNA5intron0.9981.040290.01070.00021087
rs25217697:24784485A/GDFNA5intron0.9810.960690.01310.002296
rs25217707:24789082T/CDFNA5intron0.9521.032830.01100.0032846
rs27217937:24766181A/GDFNA5intron0.9931.056540.01540.00036765
rs27217947:24766507C/GDFNA5intron0.9900.945920.01550.00033755
rs27217957:24766614T/GDFNA5intron0.9921.036240.01090.0010435
rs27217967:24772409T/CDFNA5intron0.9911.037490.01370.0072845
rs27217977:24770428A/CDFNA5intron0.9941.038110.01370.0065087
rs27217987:24769400T/GDFNA5intron0.9911.035930.01350.0092647
rs27218017:24784057A/GDFNA5intron0.9911.012680.01840.49191f
rs27218037:24781532T/CDFNA5intron0.9881.035930.01090.0011582b
rs27218057:24780316T/CDFNA5intron0.9841.039870.01090.0003336
rs27218067:24780053T/CDFNA5intron0.9951.050750.01130.000012127
rs27218077:24779987T/GDFNA5intron0.9940.956280.01110.000057376
rs27218087:24744309A/CDFNA5intron0.9921.038320.01090.00052735
rs27218097:24747910A/GDFNA5intron0.9941.031280.01100.0049145
rs27218107:24748565T/CDFNA5intron0.9920.963580.01090.00062237
rs27218117:24749429A/GDFNA5intron0.9930.971030.01090.0071066
rs27218127:24752518A/TDFNA5intron0.9871.056650.01480.00019936
rs27218147:24754509A/GDFNA5intron0.9930.954560.01110.000029347
rs27218197:24742128A/GDFNA5intron0.9941.064390.01570.000072487
rs27218207:24739228T/GDFNA5intron0.9870.954090.01120.000026677
rs283910657:24744355T/CDFNA5intron0.9940.964160.02250.10455
rs287585607:24757241A/CDFNA5intron0.9981.000500.01330.96927
rs344703897:24776405A/CDFNA5intron0.9891.039350.01830.035076
rs355258357:24744498C/GDFNA5intron0.9201.045610.02750.10415
rs37794627:24795852T/GDFNA5intron0.9941.004910.01550.75224
rs37794637:24780777T/CDFNA5intron1.0001.077670.01645.058E-65
rs47197777:24743205C/GDFNA5intron0.9921.013390.01150.24795
rs47197797:24787318A/TDFNA5intron0.9920.963480.01220.0022185
rs47223847:24787877T/CDFNA5intron0.9860.996010.01570.79767
rs47223857:24788209A/GDFNA5intron1.0001.005010.01540.7445
rs47223867:24788311A/GDFNA5intron1.0001.005010.01540.74423a
rs47223877:24797006C/GDFNA5intron0.9321.009550.01470.51884
rs612413297:24783987A/CDFNA5intron0.8941.039870.04300.36325
rs624498227:24767955A/GDFNA5intron0.7941.006020.01620.71036
rs668515827:24742576T/CDFNA5intron0.8680.992630.01660.6542b
rs69495037:24778961T/CDFNA5intron0.9981.077130.01645.992E-64
rs69510047:24743713A/CDFNA5intron1.0001.035210.02270.12846
rs69510057:24743719T/CDFNA5intron0.9921.034170.02270.13776
rs69512417:24743980A/GDFNA5intron1.0000.966090.02270.12875
rs69512447:24743982A/CDFNA5intron1.0000.966090.02270.12875
rs69512897:24743712A/GDFNA5intron1.0001.035210.02270.12846
rs69572397:24766187A/TDFNA5intron0.9981.032310.02270.1615
rs69577827:24738118A/GDFNA5untranslated-30.9981.034170.02240.13357
rs69602037:24750817A/TDFNA5intron1.0000.966670.02270.13537
rs69608377:24750969A/GDFNA5intron0.9861.035210.02270.12696
rs69626157:24746268T/CDFNA5intron1.0001.034690.02270.13385
rs69684987:24740245T/GDFNA5intron1.0001.036550.02260.11282b
rs69721067:24740413A/TDFNA5intron1.0000.964640.02260.11194
rs69752017:24766096C/GDFNA5intron0.9351.019080.02760.49474
rs69763307:24774731T/CDFNA5intron0.9980.928950.01647.047E-65
rs69790377:24793210T/CDFNA5intron0.9910.926450.01643.011E-67
rs715217067:24767640A/GDFNA5intron0.8670.969280.01880.097317
rs715357057:24742437A/GDFNA5missense0.9661.005520.03440.8747
rs715357067:24759209T/CDFNA5intron0.9641.037280.02240.10286
rs715357077:24755769A/GDFNA5intron1.0001.033450.02270.14772b
rs715357087:24747156A/GDFNA5intron1.0000.966180.02270.12987
rs730799547:24746536A/GDFNA5intron0.8440.901500.04770.029615
rs730820147:24754918T/GDFNA5intron0.6501.012580.03620.72975
rs730820197:24756643A/GDFNA5intron0.9891.022140.01790.22187
rs746429467:24786867A/GDFNA5intron1.0001.005310.01540.7317
rs748159907:24786979C/GDFNA5intron0.9881.036550.02310.11997
rs751077267:24783693A/GDFNA5intron0.9941.076270.01647.34E-67
rs753065907:24755670A/GDFNA5intron1.0000.967250.02270.14332a
rs753494667:24764663A/GDFNA5intron0.9991.032410.02270.16035
rs7545537:24758852T/CDFNA5intron0.9981.012880.01430.3711f
rs755754197:24779950T/CDFNA5intron0.9991.076810.01646.361E-66
rs756781937:24782761A/TDFNA5intron0.9960.928670.01656.896E-66
rs757438287:24746946T/CDFNA5intron1.0001.033030.02270.15237
rs758302407:24746730T/CDFNA5intron1.0001.034690.02270.13365
rs758613677:24776192A/GDFNA5intron0.9971.077240.01645.859E-67
rs765898047:24782118T/GDFNA5intron0.8710.950090.03450.13817
rs766342077:24757361A/CDFNA5intron1.0001.032620.02270.15756
rs768519117:24767396T/CDFNA5intron0.9970.985800.01560.35936
rs768535817:24772925T/CDFNA5intron0.9630.961850.02340.096572b
rs770966327:24746794A/GDFNA5intron1.0000.966180.02270.12997
rs771124037:24776784T/CDFNA5intron0.9980.927930.01655.487E-66
rs771624897:24783656A/GDFNA5intron0.9961.076380.01647.206E-67
rs771669087:24756747T/CDFNA5intron1.0000.968220.02270.15485
rs773517227:24781101T/CDFNA5intron0.9330.985310.03080.63024
rs773915977:24749181T/CDFNA5intron1.0001.035000.02270.13047
rs775464117:24763110A/GDFNA5intron1.0000.968410.02270.15826
rs775895147:24786289T/GDFNA5intron0.9881.036660.02310.11926
rs776262077:24765508A/GDFNA5intron0.9991.032410.02270.16145
rs779312967:24788982A/GDFNA5intron0.9701.076810.04600.10816
rs780398797:24772315C/GDFNA5intron0.9850.965030.02350.12965
rs784367537:24792101T/CDFNA5intron0.9921.077880.01644.889E-65
rs788372057:24766706A/GDFNA5intron0.9981.032210.02270.16345
rs788676207:24750584A/GDFNA5intron1.0001.034900.02270.13155
rs792514847:24783745T/CDFNA5intron0.9961.076480.01647.048E-67
rs798243737:24781871A/GDFNA5intron0.9601.013900.03460.69044
rs799716377:24782781T/CDFNA5intron0.9971.076810.01646.787E-67
rs800072507:24795165T/CDFNA5intron0.9841.035620.02320.13045
rs800121857:24774299T/CDFNA5intron0.9840.928110.01645.211E-67
rs801246477:24742660C/GDFNA5intron0.9061.103070.03720.0083124
rs801958707:24774468T/GDFNA5intron0.9871.077990.01644.754E-66
rs802277187:24778321A/GDFNA5intron0.9591.003710.05180.94245
rs802900117:24757568A/GDFNA5intron1.0001.032620.02270.15835
rs8745407:24758161T/CDFNA5intron0.9960.985700.01090.18651f
rs8763057:24758795T/CDFNA5coding-synon,untranslated-50.9980.970830.01090.0067532b
rs8763077:24758645T/GDFNA5intron0.9971.029420.01090.007984
rs8763087:24758565A/GDFNA5intron0.9981.030150.01090.0065871f
rs8862347:24769231T/CDFNA5intron1.0000.950940.01137.825E-61f
rs8862357:24769241C/GDFNA5intron1.0000.950940.01137.824E-61f
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

The gene is not affected by CNV!

eQTL Information