TMC8 c.1902+91G>T

Variant ID: 17-76135412-G-T

NM_152468.4(TMC8):c.1902+91G>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs17773854
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs17773854
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



The trans-ancestral genomic architecture of glycemic traits.

Nature Genetics
Chen, Ji J; Spracklen, Cassandra N CN; Marenne, Gaëlle G; Varshney, Arushi A; Corbin, Laura J LJ; Luan, Jian'an J; Willems, Sara M SM; Wu, Ying Y; Zhang, Xiaoshuai X; Horikoshi, Momoko M; Boutin, Thibaud S TS; Mägi, Reedik R; Waage, Johannes J; Li-Gao, Ruifang R; Chan, Kei Hang Katie KHK; Yao, Jie J; Anasanti, Mila D MD; Chu, Audrey Y AY; Claringbould, Annique A; Heikkinen, Jani J; Hong, Jaeyoung J; Hottenga, Jouke-Jan JJ; Huo, Shaofeng S; Kaakinen, Marika A MA; Louie, Tin T; März, Winfried W; Moreno-Macias, Hortensia H; Ndungu, Anne A; Nelson, Sarah C SC; Nolte, Ilja M IM; North, Kari E KE; Raulerson, Chelsea K CK; Ray, Debashree D; Rohde, Rebecca R; Rybin, Denis D; Schurmann, Claudia C; Sim, Xueling X; Southam, Lorraine L; Stewart, Isobel D ID; Wang, Carol A CA; Wang, Yujie Y; Wu, Peitao P; Zhang, Weihua W; Ahluwalia, Tarunveer S TS; Appel, Emil V R EVR; Bielak, Lawrence F LF; Brody, Jennifer A JA; Burtt, Noël P NP; Cabrera, Claudia P CP; Cade, Brian E BE; Chai, Jin Fang JF; Chai, Xiaoran X; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Chen, Brian H BH; Chitrala, Kumaraswamy Naidu KN; Chiu, Yen-Feng YF; de Haan, Hugoline G HG; Delgado, Graciela E GE; Demirkan, Ayse A; Duan, Qing Q; Engmann, Jorgen J; Fatumo, Segun A SA; Gayán, Javier J; Giulianini, Franco F; Gong, Jung Ho JH; Gustafsson, Stefan S; Hai, Yang Y; Hartwig, Fernando P FP; He, Jing J; Heianza, Yoriko Y; Huang, Tao T; Huerta-Chagoya, Alicia A; Hwang, Mi Yeong MY; Jensen, Richard A RA; Kawaguchi, Takahisa T; Kentistou, Katherine A KA; Kim, Young Jin YJ; Kleber, Marcus E ME; Kooner, Ishminder K IK; Lai, Shuiqing S; Lange, Leslie A LA; Langefeld, Carl D CD; Lauzon, Marie M; Li, Man M; Ligthart, Symen S; Liu, Jun J; Loh, Marie M; Long, Jirong J; Lyssenko, Valeriya V; Mangino, Massimo M; Marzi, Carola C; Montasser, May E ME; Nag, Abhishek A; Nakatochi, Masahiro M; Noce, Damia D; Noordam, Raymond R; Pistis, Giorgio G; Preuss, Michael M; Raffield, Laura L; Rasmussen-Torvik, Laura J LJ; Rich, Stephen S SS; Robertson, Neil R NR; Rueedi, Rico R; Ryan, Kathleen K; Sanna, Serena S; Saxena, Richa R; Schraut, Katharina E KE; Sennblad, Bengt B; Setoh, Kazuya K; Smith, Albert V AV; Sparsø, Thomas T; Strawbridge, Rona J RJ; Takeuchi, Fumihiko F; Tan, Jingyi J; Trompet, Stella S; van den Akker, Erik E; van der Most, Peter J PJ; Verweij, Niek N; Vogel, Mandy M; Wang, Heming H; Wang, Chaolong C; Wang, Nan N; Warren, Helen R HR; Wen, Wanqing W; Wilsgaard, Tom T; Wong, Andrew A; Wood, Andrew R AR; Xie, Tian T; Zafarmand, Mohammad Hadi MH; Zhao, Jing-Hua JH; Zhao, Wei W; Amin, Najaf N; Arzumanyan, Zorayr Z; Astrup, Arne A; Bakker, Stephan J L SJL; Baldassarre, Damiano D; Beekman, Marian M; Bergman, Richard N RN; Bertoni, Alain A; Blüher, Matthias M; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Bowden, Donald W DW; Cai, Qiuyin Q; Campbell, Archie A; Campbell, Harry H; Chang, Yi Cheng YC; de Geus, Eco J C EJC; Dehghan, Abbas A; Du, Shufa S; Eiriksdottir, Gudny G; Farmaki, Aliki Eleni AE; Frånberg, Mattias M; Fuchsberger, Christian C; Gao, Yutang Y; Gjesing, Anette P AP; Goel, Anuj A; Han, Sohee S; Hartman, Catharina A CA; Herder, Christian C; Hicks, Andrew A AA; Hsieh, Chang-Hsun CH; Hsueh, Willa A WA; Ichihara, Sahoko S; Igase, Michiya M; Ikram, M Arfan MA; Johnson, W Craig WC; Jørgensen, Marit E ME; Joshi, Peter K PK; Kalyani, Rita R RR; Kandeel, Fouad R FR; Katsuya, Tomohiro T; Khor, Chiea Chuen CC; Kiess, Wieland W; Kolcic, Ivana I; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Läll, Kristi K; Lam, Kelvin K; Lawlor, Deborah A DA; Lee, Nanette R NR; Lemaitre, Rozenn N RN; Li, Honglan H; , ; Lin, Shih-Yi SY; Lindström, Jaana J; Linneberg, Allan A; Liu, Jianjun J; Lorenzo, Carlos C; Matsubara, Tatsuaki T; Matsuda, Fumihiko F; Mingrone, Geltrude G; Mooijaart, Simon S; Moon, Sanghoon S; Nabika, Toru T; Nadkarni, Girish N GN; Nadler, Jerry L JL; Nelis, Mari M; Neville, Matt J MJ; Norris, Jill M JM; Ohyagi, Yasumasa Y; Peters, Annette A; Peyser, Patricia A PA; Polasek, Ozren O; Qi, Qibin Q; Raven, Dennis D; Reilly, Dermot F DF; Reiner, Alex A; Rivideneira, Fernando F; Roll, Kathryn K; Rudan, Igor I; Sabanayagam, Charumathi C; Sandow, Kevin K; Sattar, Naveed N; Schürmann, Annette A; Shi, Jinxiu J; Stringham, Heather M HM; Taylor, Kent D KD; Teslovich, Tanya M TM; Thuesen, Betina B; Timmers, Paul R H J PRHJ; Tremoli, Elena E; Tsai, Michael Y MY; Uitterlinden, Andre A; van Dam, Rob M RM; van Heemst, Diana D; van Hylckama Vlieg, Astrid A; van Vliet-Ostaptchouk, Jana V JV; Vangipurapu, Jagadish J; Vestergaard, Henrik H; Wang, Tao T; Willems van Dijk, Ko K; Zemunik, Tatijana T; Abecasis, Gonçalo R GR; Adair, Linda S LS; Aguilar-Salinas, Carlos Alberto CA; Alarcón-Riquelme, Marta E ME; An, Ping P; Aviles-Santa, Larissa L; Becker, Diane M DM; Beilin, Lawrence J LJ; Bergmann, Sven S; Bisgaard, Hans H; Black, Corri C; Boehnke, Michael M; Boerwinkle, Eric E; Böhm, Bernhard O BO; Bønnelykke, Klaus K; Boomsma, D I DI; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Canouil, Mickaël M; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Cheng, Ching-Yu CY; Collins, Francis S FS; Correa, Adolfo A; Cucca, Francesco F; de Silva, H Janaka HJ; Dedoussis, George G; Elmståhl, Sölve S; Evans, Michele K MK; Ferrannini, Ele E; Ferrucci, Luigi L; Florez, Jose C JC; Franks, Paul W PW; Frayling, Timothy M TM; Froguel, Philippe P; Gigante, Bruna B; Goodarzi, Mark O MO; Gordon-Larsen, Penny P; Grallert, Harald H; Grarup, Niels N; Grimsgaard, Sameline S; Groop, Leif L; Gudnason, Vilmundur V; Guo, Xiuqing X; Hamsten, Anders A; Hansen, Torben T; Hayward, Caroline C; Heckbert, Susan R SR; Horta, Bernardo L BL; Huang, Wei W; Ingelsson, Erik E; James, Pankow S PS; Jarvelin, Marjo-Ritta MR; Jonas, Jost B JB; Jukema, J Wouter JW; Kaleebu, Pontiano P; Kaplan, Robert R; Kardia, Sharon L R SLR; Kato, Norihiro N; Keinanen-Kiukaanniemi, Sirkka M SM; Kim, Bong-Jo BJ; Kivimaki, Mika M; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Kuh, Diana D; Kumari, Meena M; Kutalik, Zoltan Z; Laakso, Markku M; Lakka, Timo A TA; Launer, Lenore J LJ; Leander, Karin K; Li, Huaixing H; Lin, Xu X; Lind, Lars L; Lindgren, Cecilia C; Liu, Simin S; Loos, Ruth J F RJF; Magnusson, Patrik K E PKE; Mahajan, Anubha A; Metspalu, Andres A; Mook-Kanamori, Dennis O DO; Mori, Trevor A TA; Munroe, Patricia B PB; Njølstad, Inger I; O'Connell, Jeffrey R JR; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pedersen, Oluf O; Pennell, Craig E CE; Porteous, David J DJ; Pramstaller, Peter P PP; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Raffel, Leslie J LJ; Rauramaa, Rainer R; Redline, Susan S; Ridker, Paul M PM; Rosendaal, Frits R FR; Saaristo, Timo E TE; Sandhu, Manjinder M; Saramies, Jouko J; Schneiderman, Neil N; Schwarz, Peter P; Scott, Laura J LJ; Selvin, Elizabeth E; Sever, Peter P; Shu, Xiao-Ou XO; Slagboom, P Eline PE; Small, Kerrin S KS; Smith, Blair H BH; Snieder, Harold H; Sofer, Tamar T; Sørensen, Thorkild I A TIA; Spector, Tim D TD; Stanton, Alice A; Steves, Claire J CJ; Stumvoll, Michael M; Sun, Liang L; Tabara, Yasuharu Y; Tai, E Shyong ES; Timpson, Nicholas J NJ; Tönjes, Anke A; Tuomilehto, Jaakko J; Tusie, Teresa T; Uusitupa, Matti M; van der Harst, Pim P; van Duijn, Cornelia C; Vitart, Veronique V; Vollenweider, Peter P; Vrijkotte, Tanja G M TGM; Wagenknecht, Lynne E LE; Walker, Mark M; Wang, Ya X YX; Wareham, Nick J NJ; Watanabe, Richard M RM; Watkins, Hugh H; Wei, Wen B WB; Wickremasinghe, Ananda R AR; Willemsen, Gonneke G; Wilson, James F JF; Wong, Tien-Yin TY; Wu, Jer-Yuarn JY; Xiang, Anny H AH; Yanek, Lisa R LR; Yengo, Loïc L; Yokota, Mitsuhiro M; Zeggini, Eleftheria E; Zheng, Wei W; Zonderman, Alan B AB; Rotter, Jerome I JI; Gloyn, Anna L AL; McCarthy, Mark I MI; Dupuis, Josée J; Meigs, James B JB; Scott, Robert A RA; Prokopenko, Inga I; Leong, Aaron A; Liu, Ching-Ti CT; Parker, Stephen C J SCJ; Mohlke, Karen L KL; Langenberg, Claudia C; Wheeler, Eleanor E; Morris, Andrew P AP; Barroso, Inês I; ,
Publication Date: 2021-06

Variant appearance in text: rs17773854
PubMed Link: 34059833
Variant Present in the following documents:
  • EMS120610-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



The trans-ancestral genomic architecture of glycemic traits.

Nature Genetics
Chen, Ji J; Spracklen, Cassandra N CN; Marenne, Gaëlle G; Varshney, Arushi A; Corbin, Laura J LJ; Luan, Jian'an J; Willems, Sara M SM; Wu, Ying Y; Zhang, Xiaoshuai X; Horikoshi, Momoko M; Boutin, Thibaud S TS; Mägi, Reedik R; Waage, Johannes J; Li-Gao, Ruifang R; Chan, Kei Hang Katie KHK; Yao, Jie J; Anasanti, Mila D MD; Chu, Audrey Y AY; Claringbould, Annique A; Heikkinen, Jani J; Hong, Jaeyoung J; Hottenga, Jouke-Jan JJ; Huo, Shaofeng S; Kaakinen, Marika A MA; Louie, Tin T; März, Winfried W; Moreno-Macias, Hortensia H; Ndungu, Anne A; Nelson, Sarah C SC; Nolte, Ilja M IM; North, Kari E KE; Raulerson, Chelsea K CK; Ray, Debashree D; Rohde, Rebecca R; Rybin, Denis D; Schurmann, Claudia C; Sim, Xueling X; Southam, Lorraine L; Stewart, Isobel D ID; Wang, Carol A CA; Wang, Yujie Y; Wu, Peitao P; Zhang, Weihua W; Ahluwalia, Tarunveer S TS; Appel, Emil V R EVR; Bielak, Lawrence F LF; Brody, Jennifer A JA; Burtt, Noël P NP; Cabrera, Claudia P CP; Cade, Brian E BE; Chai, Jin Fang JF; Chai, Xiaoran X; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Chen, Brian H BH; Chitrala, Kumaraswamy Naidu KN; Chiu, Yen-Feng YF; de Haan, Hugoline G HG; Delgado, Graciela E GE; Demirkan, Ayse A; Duan, Qing Q; Engmann, Jorgen J; Fatumo, Segun A SA; Gayán, Javier J; Giulianini, Franco F; Gong, Jung Ho JH; Gustafsson, Stefan S; Hai, Yang Y; Hartwig, Fernando P FP; He, Jing J; Heianza, Yoriko Y; Huang, Tao T; Huerta-Chagoya, Alicia A; Hwang, Mi Yeong MY; Jensen, Richard A RA; Kawaguchi, Takahisa T; Kentistou, Katherine A KA; Kim, Young Jin YJ; Kleber, Marcus E ME; Kooner, Ishminder K IK; Lai, Shuiqing S; Lange, Leslie A LA; Langefeld, Carl D CD; Lauzon, Marie M; Li, Man M; Ligthart, Symen S; Liu, Jun J; Loh, Marie M; Long, Jirong J; Lyssenko, Valeriya V; Mangino, Massimo M; Marzi, Carola C; Montasser, May E ME; Nag, Abhishek A; Nakatochi, Masahiro M; Noce, Damia D; Noordam, Raymond R; Pistis, Giorgio G; Preuss, Michael M; Raffield, Laura L; Rasmussen-Torvik, Laura J LJ; Rich, Stephen S SS; Robertson, Neil R NR; Rueedi, Rico R; Ryan, Kathleen K; Sanna, Serena S; Saxena, Richa R; Schraut, Katharina E KE; Sennblad, Bengt B; Setoh, Kazuya K; Smith, Albert V AV; Sparsø, Thomas T; Strawbridge, Rona J RJ; Takeuchi, Fumihiko F; Tan, Jingyi J; Trompet, Stella S; van den Akker, Erik E; van der Most, Peter J PJ; Verweij, Niek N; Vogel, Mandy M; Wang, Heming H; Wang, Chaolong C; Wang, Nan N; Warren, Helen R HR; Wen, Wanqing W; Wilsgaard, Tom T; Wong, Andrew A; Wood, Andrew R AR; Xie, Tian T; Zafarmand, Mohammad Hadi MH; Zhao, Jing-Hua JH; Zhao, Wei W; Amin, Najaf N; Arzumanyan, Zorayr Z; Astrup, Arne A; Bakker, Stephan J L SJL; Baldassarre, Damiano D; Beekman, Marian M; Bergman, Richard N RN; Bertoni, Alain A; Blüher, Matthias M; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Bowden, Donald W DW; Cai, Qiuyin Q; Campbell, Archie A; Campbell, Harry H; Chang, Yi Cheng YC; de Geus, Eco J C EJC; Dehghan, Abbas A; Du, Shufa S; Eiriksdottir, Gudny G; Farmaki, Aliki Eleni AE; Frånberg, Mattias M; Fuchsberger, Christian C; Gao, Yutang Y; Gjesing, Anette P AP; Goel, Anuj A; Han, Sohee S; Hartman, Catharina A CA; Herder, Christian C; Hicks, Andrew A AA; Hsieh, Chang-Hsun CH; Hsueh, Willa A WA; Ichihara, Sahoko S; Igase, Michiya M; Ikram, M Arfan MA; Johnson, W Craig WC; Jørgensen, Marit E ME; Joshi, Peter K PK; Kalyani, Rita R RR; Kandeel, Fouad R FR; Katsuya, Tomohiro T; Khor, Chiea Chuen CC; Kiess, Wieland W; Kolcic, Ivana I; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Läll, Kristi K; Lam, Kelvin K; Lawlor, Deborah A DA; Lee, Nanette R NR; Lemaitre, Rozenn N RN; Li, Honglan H; , ; Lin, Shih-Yi SY; Lindström, Jaana J; Linneberg, Allan A; Liu, Jianjun J; Lorenzo, Carlos C; Matsubara, Tatsuaki T; Matsuda, Fumihiko F; Mingrone, Geltrude G; Mooijaart, Simon S; Moon, Sanghoon S; Nabika, Toru T; Nadkarni, Girish N GN; Nadler, Jerry L JL; Nelis, Mari M; Neville, Matt J MJ; Norris, Jill M JM; Ohyagi, Yasumasa Y; Peters, Annette A; Peyser, Patricia A PA; Polasek, Ozren O; Qi, Qibin Q; Raven, Dennis D; Reilly, Dermot F DF; Reiner, Alex A; Rivideneira, Fernando F; Roll, Kathryn K; Rudan, Igor I; Sabanayagam, Charumathi C; Sandow, Kevin K; Sattar, Naveed N; Schürmann, Annette A; Shi, Jinxiu J; Stringham, Heather M HM; Taylor, Kent D KD; Teslovich, Tanya M TM; Thuesen, Betina B; Timmers, Paul R H J PRHJ; Tremoli, Elena E; Tsai, Michael Y MY; Uitterlinden, Andre A; van Dam, Rob M RM; van Heemst, Diana D; van Hylckama Vlieg, Astrid A; van Vliet-Ostaptchouk, Jana V JV; Vangipurapu, Jagadish J; Vestergaard, Henrik H; Wang, Tao T; Willems van Dijk, Ko K; Zemunik, Tatijana T; Abecasis, Gonçalo R GR; Adair, Linda S LS; Aguilar-Salinas, Carlos Alberto CA; Alarcón-Riquelme, Marta E ME; An, Ping P; Aviles-Santa, Larissa L; Becker, Diane M DM; Beilin, Lawrence J LJ; Bergmann, Sven S; Bisgaard, Hans H; Black, Corri C; Boehnke, Michael M; Boerwinkle, Eric E; Böhm, Bernhard O BO; Bønnelykke, Klaus K; Boomsma, D I DI; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Canouil, Mickaël M; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Cheng, Ching-Yu CY; Collins, Francis S FS; Correa, Adolfo A; Cucca, Francesco F; de Silva, H Janaka HJ; Dedoussis, George G; Elmståhl, Sölve S; Evans, Michele K MK; Ferrannini, Ele E; Ferrucci, Luigi L; Florez, Jose C JC; Franks, Paul W PW; Frayling, Timothy M TM; Froguel, Philippe P; Gigante, Bruna B; Goodarzi, Mark O MO; Gordon-Larsen, Penny P; Grallert, Harald H; Grarup, Niels N; Grimsgaard, Sameline S; Groop, Leif L; Gudnason, Vilmundur V; Guo, Xiuqing X; Hamsten, Anders A; Hansen, Torben T; Hayward, Caroline C; Heckbert, Susan R SR; Horta, Bernardo L BL; Huang, Wei W; Ingelsson, Erik E; James, Pankow S PS; Jarvelin, Marjo-Ritta MR; Jonas, Jost B JB; Jukema, J Wouter JW; Kaleebu, Pontiano P; Kaplan, Robert R; Kardia, Sharon L R SLR; Kato, Norihiro N; Keinanen-Kiukaanniemi, Sirkka M SM; Kim, Bong-Jo BJ; Kivimaki, Mika M; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Kuh, Diana D; Kumari, Meena M; Kutalik, Zoltan Z; Laakso, Markku M; Lakka, Timo A TA; Launer, Lenore J LJ; Leander, Karin K; Li, Huaixing H; Lin, Xu X; Lind, Lars L; Lindgren, Cecilia C; Liu, Simin S; Loos, Ruth J F RJF; Magnusson, Patrik K E PKE; Mahajan, Anubha A; Metspalu, Andres A; Mook-Kanamori, Dennis O DO; Mori, Trevor A TA; Munroe, Patricia B PB; Njølstad, Inger I; O'Connell, Jeffrey R JR; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pedersen, Oluf O; Pennell, Craig E CE; Porteous, David J DJ; Pramstaller, Peter P PP; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Raffel, Leslie J LJ; Rauramaa, Rainer R; Redline, Susan S; Ridker, Paul M PM; Rosendaal, Frits R FR; Saaristo, Timo E TE; Sandhu, Manjinder M; Saramies, Jouko J; Schneiderman, Neil N; Schwarz, Peter P; Scott, Laura J LJ; Selvin, Elizabeth E; Sever, Peter P; Shu, Xiao-Ou XO; Slagboom, P Eline PE; Small, Kerrin S KS; Smith, Blair H BH; Snieder, Harold H; Sofer, Tamar T; Sørensen, Thorkild I A TIA; Spector, Tim D TD; Stanton, Alice A; Steves, Claire J CJ; Stumvoll, Michael M; Sun, Liang L; Tabara, Yasuharu Y; Tai, E Shyong ES; Timpson, Nicholas J NJ; Tönjes, Anke A; Tuomilehto, Jaakko J; Tusie, Teresa T; Uusitupa, Matti M; van der Harst, Pim P; van Duijn, Cornelia C; Vitart, Veronique V; Vollenweider, Peter P; Vrijkotte, Tanja G M TGM; Wagenknecht, Lynne E LE; Walker, Mark M; Wang, Ya X YX; Wareham, Nick J NJ; Watanabe, Richard M RM; Watkins, Hugh H; Wei, Wen B WB; Wickremasinghe, Ananda R AR; Willemsen, Gonneke G; Wilson, James F JF; Wong, Tien-Yin TY; Wu, Jer-Yuarn JY; Xiang, Anny H AH; Yanek, Lisa R LR; Yengo, Loïc L; Yokota, Mitsuhiro M; Zeggini, Eleftheria E; Zheng, Wei W; Zonderman, Alan B AB; Rotter, Jerome I JI; Gloyn, Anna L AL; McCarthy, Mark I MI; Dupuis, Josée J; Meigs, James B JB; Scott, Robert A RA; Prokopenko, Inga I; Leong, Aaron A; Liu, Ching-Ti CT; Parker, Stephen C J SCJ; Mohlke, Karen L KL; Langenberg, Claudia C; Wheeler, Eleanor E; Morris, Andrew P AP; Barroso, Inês I; ,
Publication Date: 2021-06

Variant appearance in text: rs17773854
PubMed Link: 34059833
Variant Present in the following documents:
  • EMS120610-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: TMC8: 1902+91G>T; rs17773854
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs17773854
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs17773854
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Genetic variations in the epidermodysplasia verruciformis (EVER/TMC) genes, cutaneous human papillomavirus infection and squamous cell carcinoma of the skin.

The British Journal Of Dermatology
Hampras, S S SS; Rollison, D E DE; Tommasino, M M; Gheit, T T; Schabath, M B MB; Messina, J L JL; Fenske, N A NA; Cherpelis, B S BS; Sondak, V K VK; Iannacone, M R MR; Schmitt, M M; Pawlita, M M
Publication Date: 2015-12

Variant appearance in text: rs17773854
PubMed Link: 26126409
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk of squamous cell skin cancer after organ transplant associated with antibodies to cutaneous papillomaviruses, polyomaviruses, and TMC6/8 (EVER1/2) variants.

Cancer Medicine
Madeleine, Margaret M MM; Carter, Joseph J JJ; Johnson, Lisa G LG; Wipf, Gregory C GC; Davis, Connie C; Berg, Daniel D; Nelson, Karen K; Daling, Janet R JR; Schwartz, Stephen M SM; Galloway, Denise A DA
Publication Date: 2014-10

Variant appearance in text: rs17773854
PubMed Link: 24913986
Variant Present in the following documents:
  • Main text
  • cam40003-1440.pdf
View BVdb publication page



Contribution of TMC6 and TMC8 (EVER1 and EVER2) variants to cervical cancer susceptibility.

International Journal Of Cancer
Castro, Felipe A FA; Ivansson, Emma L EL; Schmitt, Markus M; Juko-Pecirep, Ivana I; Kjellberg, Lennart L; Hildesheim, Allan A; Gyllensten, Ulf B UB; Pawlita, Michael M
Publication Date: 2012-01-15

Variant appearance in text: rs17773854
PubMed Link: 21387292
Variant Present in the following documents:
  • Main text
View BVdb publication page