All genomic variants

6374 entries on 64 pages. Showing entries 1 - 100.
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Variant ID     

Effect     

Chr     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
0000005365 ./. 1 g.(?) McCann EP et al. (2017) TARDBP_000045 - XY Liu
0000002626 ./. 1 g.40539204_40539207delTGAT Mole et al. Eur J Paed Neurol 5 (Suppl A):7-102001 PPT1_000051 - Y Yang
0000006381 ./. 1 g.[205638464C>T];[205638464C>G] Tan EK et al. (2010),dbSNP SLC45A3_000001 - XY Liu
0000006311 ./. 1 g.[207675655G>A];[207675655G>C] Chung SJ et al. (2013),dbSNP CR1_000005 - XY Liu
0000005879 ./. 1 g.1470750G>A Delplanque J et al. (2014) TMEM240_000005 - XY Liu
0000005875 ./. 1 g.1470752G>A Delplanque J et al. (2014) TMEM240_000001 - XY Liu
0000005889 ./. 1 g.1470752G>A Zeng S et al. (2016) TMEM240_000001 - XY Liu
0000005880 ./. 1 g.1470772G>C Delplanque J et al. (2014) TMEM240_000006 - XY Liu
0000005878 ./. 1 g.1470816C>T Delplanque J et al. (2014) TMEM240_000004 - XY Liu
0000005877 ./. 1 g.1470996G>A Delplanque J et al. (2014) TMEM240_000003 - XY Liu
0000005876 ./. 1 g.1471103G>A Delplanque J et al. (2014) TMEM240_000002 - XY Liu
0000003595 ./. 1 g.8021755_8021770del16 KeyS RJ, 2009 PARK7_000011 - Y Yang
0000003594 ./. 1 g.8022874T>C Guo JF, 2008 PARK7_000010 - Y Yang
0000003597 ./. 1 g.8022923G>T Abou-Sleiman PM, 2003 PARK7_000013 - Y Yang
0000003596 ./. 1 g.8025408G>T Tang B, 2006 PARK7_000012 - Y Yang
0000005263 ./. 1 g.8025426C>T Hanagasi HA et al. (2016) PARK7_000025 - XY Liu
0000003599 ./. 1 g.8025485G>T Hering R, 2004 PARK7_000015 - Y Yang
0000003598 ./. 1 g.8029446C>T Abou-Sleiman PM, 2003 PARK7_000014 - Y Yang
0000003601 ./. 1 g.8029472_8029473insA Tarantino P, 2009 PARK7_000017 - Y Yang
0000003600 ./. 1 g.8030994G>A Abou-Sleiman PM, 2003;Lockhart PJ, 2004;Healy DG, 2004;Clark LN, 2004;Pankratz N, 2006 PARK7_000016 - Y Yang
0000003603 ./. 1 g.8030995G>A Abou-Sleiman PM, 2003 PARK7_000019 - Y Yang
0000003602 ./. 1 g.8031011G>A Clark LN, 2004 PARK7_000018 - Y Yang
0000003605 ./. 1 g.8031025_8031035del11 Hedrich K, 2004 PARK7_000021 - Y Yang
0000003604 ./. 1 g.8044990A>C Abou-Sleiman PM, 2003 PARK7_000020 - Y Yang
0000003607 ./. 1 g.8045015_8045017delGCC Macedo MG, 2009 PARK7_000023 - Y Yang
0000003606 ./. 1 g.8045024C>A Pankratz N, 2006 PARK7_000022 - Y Yang
0000003589 ./. 1 g.8045031G>A Annesi G, 2005 PARK7_000005 - Y Yang
0000003590 ./. 1 g.8045041T>C Bonifati V, 2003 PARK7_000006 - Y Yang
0000003759 ./. 1 g.8045041T>C Vilotti S1, Codrich M, Dal Ferro M, Pinto M, Ferrer I, Collavin L, Gustincich S, Zucchelli S.(2012) PARK7_000006 - Y Yang
0000003591 ./. 1 g.8045045A>G Abou-Sleiman PM, 2003 PARK7_000007 - Y Yang
0000003758 ./. 1 g.8045045A>T Anvret A1, Blackinton JG, Westerlund M, Ran C, Sydow O, Willows T, H?kansson A, Nissbrandt H, Belin AC.(2011) PARK7_000024 - Y Yang
0000003592 ./. 1 g.8045055G>T Clark LN, 2004 PARK7_000008 - Y Yang
0000003585 ./. 1 g.8045067A>G Nuytemans K, 2009 PARK7_000001 - Y Yang
0000003586 ./. 1 g.8045079G>A Macedo MG, 2009;Nuytemans K, 2009 PARK7_000002 - Y Yang
0000003587 ./. 1 g.8045102T>C Hering R, 2004 PARK7_000003 - Y Yang
0000003588 ./. 1 g.8045234_8045235insA Abou-Sleiman PM, 2003 PARK7_000004 - Y Yang
0000003593 ./. 1 g.8045317G>A Abou-Sleiman PM, 2003 PARK7_000009 - Y Yang
0000001778 ./. 1 g.10318660A>T Saito M1, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S.(1997) KIF1B_000001 - Y Yang
0000000582 ./. 1 g.11073979T>A Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008) TARDBP_000001 - Y Yang
0000000601 ./. 1 g.11073982T>C Gijselinck I1, Sleegers K, Engelborghs S, Robberecht W, Martin JJ, Vandenberghe R, Sciot R, Dermaut B, Goossens D, van der Zee J, De Pooter T, Del-Favero J, Santens P, De Jonghe P, De Deyn PP, Van Broeckhoven C, Cruts M.(2009) TARDBP_000019 - Y Yang
0000000602 ./. 1 g.11073982T>C Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008) TARDBP_000019 - Y Yang
0000000704 ./. 1 g.11074107C>T Huang R1, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012) TARDBP_000040 - Y Yang
0000000590 ./. 1 g.11076931C>T Sreedharan J1, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE.(2008) TARDBP_000009 - Y Yang
0000000591 ./. 1 g.11076931C>T Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008) TARDBP_000009 - Y Yang
0000000716 ./. 1 g.11076931C>T Zhang Z1, Almeida S, Lu Y, Nishimura AL, Peng L, Sun D, Wu B, Karydas AM, Tartaglia MC, Fong JC, Miller BL, Farese RV Jr, Moore MJ, Shaw CE, Gao FB.(2013) TARDBP_000009 - Y Yang
0000006016 ./. 1 g.11076931C>T Chiang HH1, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C.(2012) TARDBP_000009 - XY Liu
0000000583 ./. 1 g.11078893A>G Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.(2008) TARDBP_000002 - Y Yang
0000005261 ./. 1 g.11078893A>G Chiang CH et al. (2016) TARDBP_000002 - XY Liu
0000001420 ./. 1 g.11078981A>G Gallone S1, Giordana MT, Scarpini E, Rainero I, Rubino E, Fenoglio P, Galimberti D, Grifoni S, Venturelli E, Acutis PL, Peletto S, Maniaci MG, Ferrero P, Zotta M, Pinessi L.(2009) TARDBP_000041 - Y Yang
0000000599 ./. 1 g.11080584C>T Gijselinck I1, Sleegers K, Engelborghs S, Robberecht W, Martin JJ, Vandenberghe R, Sciot R, Dermaut B, Goossens D, van der Zee J, De Pooter T, Del-Favero J, Santens P, De Jonghe P, De Deyn PP, Van Broeckhoven C, Cruts M.(2009) TARDBP_000017 - Y Yang
0000000603 ./. 1 g.11080617A>T Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008) TARDBP_000020 - Y Yang
0000001428 ./. 1 g.11080701C>T Borroni B1, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, Agosti C, Cosseddu M, Turla M, Di Lorenzo D, Pietro Comi G, Gennarelli M, Padovani A.(2010) TARDBP_000042 - Y Yang
0000001417 ./. 1 g.11082253A>G Kovacs GG1, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, Budka H, Ghetti B, Spina S.(2009) TARDBP_000036 - Y Yang
0000001425 ./. 1 g.11082253A>G Kovacs GG1, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, Budka H, Ghetti B, Spina S.(2009) TARDBP_000036 - Y Yang
0000001418 ./. 1 g.11082266A>G Borroni B1, Bonvicini C, Alberici A, Buratti E, Agosti C, Archetti S, Papetti A, Stuani C, Di Luca M, Gennarelli M, Padovani A.(2009) TARDBP_000037 - Y Yang
0000001426 ./. 1 g.11082266A>G Borroni B1, Bonvicini C, Alberici A, Buratti E, Agosti C, Archetti S, Papetti A, Stuani C, Di Luca M, Gennarelli M, Padovani A.(2009) TARDBP_000037 - Y Yang
0000000586 ./. 1 g.11082325G>A Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.(2008) TARDBP_000005 - Y Yang
0000000585 ./. 1 g.11082335G>C Van Deerlin VM1, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, Yang WS, Kalb R, Galasko DR, Montine TJ, Trojanowski JQ(2008) TARDBP_000004 - Y Yang
0000000709 ./. 1 g.11082341G>A Zou ZY1, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.(2012) TARDBP_000025 - Y Yang
0000000593 ./. 1 g.11082347G>C Sreedharan J1, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE.(2008) TARDBP_000011 - Y Yang
0000005185 ./. 1 g.11082347G>T Sabatelli M et al. (2015) TARDBP_000044 - XY Liu
0000005362 ./. 1 g.11082347G>T McCann EP et al. (2017) TARDBP_000044 - XY Liu
0000000796 ./. 1 g.11082349G>A Borghero G1, Pugliatti M2, Marrosu F1, Marrosu MG3, Murru MR3, Floris G1, Cannas A1, Parish LD2, Occhineri P2, Cau TB4, Loi D4, Ticca A5, Traccis S6, (2014) TARDBP_000035 - Y Yang
0000001416 ./. 1 g.11082349G>A Benajiba L1, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, Legallic S, Salachas F, Hannequin D, Decousus M, Lacomblez L, Guedj E, Golfier V, Camu W, Dubois B, Campion D, Meininger V(2009) TARDBP_000035 - Y Yang
0000001424 ./. 1 g.11082349G>A Benajiba L1, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, Legallic S, Salachas F, Hannequin D, Decousus M, Lacomblez L, Guedj E, Golfietwork er V, Camu W, Dubois B, Campion D(2009) TARDBP_000035 - Y Yang
0000000592 ./. 1 g.11082358G>A Van Deerlin VM1, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, Yang WS, Kalb R, Galasko DR, Montine TJ(2008) TARDBP_000010 - Y Yang
0000000587 ./. 1 g.11082409G>A Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.(2008) TARDBP_000006 - Y Yang
0000005242 ./. 1 g.11082409G>A Wang X et al. (2015) TARDBP_000006 - XY Liu
0000000723 ./. 1 g.11082410C>A Fujita Y1, Ikeda M, Yanagisawa T, Senoo Y, Okamoto K.(2011) TARDBP_000033 - Y Yang
0000000600 ./. 1 g.11082411G>A Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008) TARDBP_000018 - Y Yang
0000000703 ./. 1 g.11082429C>T Huang R1, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012) TARDBP_000024 - Y Yang
0000000797 ./. 1 g.11082456A>T Vrabec K1, Koritnik B2, Leonardis L2, Dolenc-Gro?elj L2, Zidar J2, Smith B3, Vance C3, Shaw C3, Rogelj B4, Glava? D1, Ravnik-Glava? M5.(2015) TARDBP_000043 - Y Yang
0000000594 ./. 1 g.11082457C>A Sreedharan J1, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE.(2008) TARDBP_000012 - Y Yang
0000000584 ./. 1 g.11082475A>G Sreedharan J1, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE.(2008) TARDBP_000003 - Y Yang
0000000700 ./. 1 g.11082475A>G Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011) TARDBP_000003 - Y Yang
0000000717 ./. 1 g.11082475A>G Zhang Z1, Almeida S, Lu Y, Nishimura AL, Peng L, Sun D, Wu B, Karydas AM, Tartaglia MC, Fong JC, Miller BL, Farese RV Jr, Moore MJ, Shaw CE, Gao FB.(2013) TARDBP_000003 - Y Yang
0000005245 ./. 1 g.11082475A>G Ju X et al. (2016) TARDBP_000003 - XY Liu
0000005363 ./. 1 g.11082475A>G McCann EP et al. (2017) TARDBP_000003 - XY Liu
0000000596 ./. 1 g.11082494A>G Yokoseki A1, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, Eguchi H, Tsujino A, Ikeuchi T, Kakita A, Okamoto K, Nishizawa M, Takahashi H, Onodera O.(2008) TARDBP_000014 - Y Yang
0000000588 ./. 1 g.11082508G>T Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.(2008) TARDBP_000007 - Y Yang
0000000710 ./. 1 g.11082509G>T Zou ZY1, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.(2012) TARDBP_000026 - Y Yang
0000000714 ./. 1 g.11082509G>T Armstrong GA1, Drapeau P.(2013) TARDBP_000026 - Y Yang
0000000713 ./. 1 g.11082521A>G Weishaupt JH1, Waibel S, Birve A, Volk AE, Mayer B, Meyer T, Ludolph AC, Andersen PM.(2013) TARDBP_000028 - Y Yang
0000000715 ./. 1 g.11082521A>G Homma T1, Nagaoka U, Kawata A, Mochizuki Y, Kawakami H, Maruyama H, Matsubara S, Komori T.(2014) TARDBP_000028 - Y Yang
0000000719 ./. 1 g.11082521A>G Czell D1, Andersen PM, Morita M, Neuwirth C, Perren F, Weber M.(2013) TARDBP_000028 - Y Yang
0000000604 ./. 1 g.11082522T>C Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008) TARDBP_000021 - Y Yang
0000000720 ./. 1 g.11082535G>C Chiang HH1, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C.(2012) TARDBP_000030 - Y Yang
0000001421 ./. 1 g.11082541A>G Borroni B1, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, Agosti C, Cosseddu M, Turla M, Di Lorenzo D, Pietro Comi G, Gennarelli M, Padovani A.(2010) TARDBP_000038 - Y Yang
0000001422 ./. 1 g.11082541A>G Borroni B1, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, Agosti C, Cosseddu M, Turla M, Di Lorenzo D, Pietro Comi G, Gennarelli M, Padovani A.(2010) TARDBP_000038 - Y Yang
0000000721 ./. 1 g.11082548G>C Chiang HH1, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C.(2012) TARDBP_000031 - Y Yang
0000000589 ./. 1 g.11082549G>T Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.(2008) TARDBP_000008 - Y Yang
0000000711 ./. 1 g.11082564C>T Zou ZY1, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.(2012) TARDBP_000027 - Y Yang
0000000718 ./. 1 g.11082593G>A Czell D1, Andersen PM, Morita M, Neuwirth C, Perren F, Weber M.(2013) TARDBP_000029 - Y Yang
0000005364 ./. 1 g.11082593G>A McCann EP et al. (2017) TARDBP_000029 - XY Liu
0000000701 ./. 1 g.11082598A>G Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011) TARDBP_000022 - Y Yang
0000000702 ./. 1 g.11082599A>G Huang R1, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012) TARDBP_000023 - Y Yang
0000006017 ./. 1 g.11082601T>C Chiang HH1, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C.(2012) TARDBP_000046 - XY Liu
0000000595 ./. 1 g.11082610G>A Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.(2008) TARDBP_000013 - Y Yang
0000000705 ./. 1 g.11082610G>A Orrù S1, Manolakos E, Orrù N, Kokotas H, Mascia V, Carcassi C, Petersen MB.(2012) TARDBP_000013 - Y Yang
0000000706 ./. 1 g.11082610G>A Quadri M1, Cossu G, Saddi V, Simons EJ, Murgia D, Melis M, Ticca A, Oostra BA, Bonifati V.(2011) TARDBP_000013 - Y Yang
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