BTN2A1 c.534G>A ;(p.W178*)

Variant ID: 6-26463575-G-A

NM_007049.4(BTN2A1):c.534G>A;(p.W178*)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Genomic and neuroimaging approaches to bipolar disorder.

Bjpsych Open
Oraki Kohshour, Mojtaba M; Papiol, Sergi S; Ching, Christopher R K CRK; Schulze, Thomas G TG
Publication Date: 2022-02-01

Variant appearance in text: rs13195402
PubMed Link: 35101157
Variant Present in the following documents:
  • Main text
  • S2056472421010826a.pdf
View BVdb publication page



Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.

Nature Genetics
Mullins, Niamh N; Forstner, Andreas J AJ; O'Connell, Kevin S KS; Coombes, Brandon B; Coleman, Jonathan R I JRI; Qiao, Zhen Z; Als, Thomas D TD; Bigdeli, Tim B TB; Børte, Sigrid S; Bryois, Julien J; Charney, Alexander W AW; Drange, Ole Kristian OK; Gandal, Michael J MJ; Hagenaars, Saskia P SP; Ikeda, Masashi M; Kamitaki, Nolan N; Kim, Minsoo M; Krebs, Kristi K; Panagiotaropoulou, Georgia G; Schilder, Brian M BM; Sloofman, Laura G LG; Steinberg, Stacy S; Trubetskoy, Vassily V; Winsvold, Bendik S BS; Won, Hong-Hee HH; Abramova, Liliya L; Adorjan, Kristina K; Agerbo, Esben E; Al Eissa, Mariam M; Albani, Diego D; Alliey-Rodriguez, Ney N; Anjorin, Adebayo A; Antilla, Verneri V; Antoniou, Anastasia A; Awasthi, Swapnil S; Baek, Ji Hyun JH; Bækvad-Hansen, Marie M; Bass, Nicholas N; Bauer, Michael M; Beins, Eva C EC; Bergen, Sarah E SE; Birner, Armin A; Bøcker Pedersen, Carsten C; Bøen, Erlend E; Boks, Marco P MP; Bosch, Rosa R; Brum, Murielle M; Brumpton, Ben M BM; Brunkhorst-Kanaan, Nathalie N; Budde, Monika M; Bybjerg-Grauholm, Jonas J; Byerley, William W; Cairns, Murray M; Casas, Miquel M; Cervantes, Pablo P; Clarke, Toni-Kim TK; Cruceanu, Cristiana C; Cuellar-Barboza, Alfredo A; Cunningham, Julie J; Curtis, David D; Czerski, Piotr M PM; Dale, Anders M AM; Dalkner, Nina N; David, Friederike S FS; Degenhardt, Franziska F; Djurovic, Srdjan S; Dobbyn, Amanda L AL; Douzenis, Athanassios A; Elvsåshagen, Torbjørn T; Escott-Price, Valentina V; Ferrier, I Nicol IN; Fiorentino, Alessia A; Foroud, Tatiana M TM; Forty, Liz L; Frank, Josef J; Frei, Oleksandr O; Freimer, Nelson B NB; Frisén, Louise L; Gade, Katrin K; Garnham, Julie J; Gelernter, Joel J; Giørtz Pedersen, Marianne M; Gizer, Ian R IR; Gordon, Scott D SD; Gordon-Smith, Katherine K; Greenwood, Tiffany A TA; Grove, Jakob J; Guzman-Parra, José J; Ha, Kyooseob K; Haraldsson, Magnus M; Hautzinger, Martin M; Heilbronner, Urs U; Hellgren, Dennis D; Herms, Stefan S; Hoffmann, Per P; Holmans, Peter A PA; Huckins, Laura L; Jamain, Stéphane S; Johnson, Jessica S JS; Kalman, Janos L JL; Kamatani, Yoichiro Y; Kennedy, James L JL; Kittel-Schneider, Sarah S; Knowles, James A JA; Kogevinas, Manolis M; Koromina, Maria M; Kranz, Thorsten M TM; Kranzler, Henry R HR; Kubo, Michiaki M; Kupka, Ralph R; Kushner, Steven A SA; Lavebratt, Catharina C; Lawrence, Jacob J; Leber, Markus M; Lee, Heon-Jeong HJ; Lee, Phil H PH; Levy, Shawn E SE; Lewis, Catrin C; Liao, Calwing C; Lucae, Susanne S; Lundberg, Martin M; MacIntyre, Donald J DJ; Magnusson, Sigurdur H SH; Maier, Wolfgang W; Maihofer, Adam A; Malaspina, Dolores D; Maratou, Eirini E; Martinsson, Lina L; Mattheisen, Manuel M; McCarroll, Steven A SA; McGregor, Nathaniel W NW; McGuffin, Peter P; McKay, James D JD; Medeiros, Helena H; Medland, Sarah E SE; Millischer, Vincent V; Montgomery, Grant W GW; Moran, Jennifer L JL; Morris, Derek W DW; Mühleisen, Thomas W TW; O'Brien, Niamh N; O'Donovan, Claire C; Olde Loohuis, Loes M LM; Oruc, Lilijana L; Papiol, Sergi S; Pardiñas, Antonio F AF; Perry, Amy A; Pfennig, Andrea A; Porichi, Evgenia E; Potash, James B JB; Quested, Digby D; Raj, Towfique T; Rapaport, Mark H MH; DePaulo, J Raymond JR; Regeer, Eline J EJ; Rice, John P JP; Rivas, Fabio F; Rivera, Margarita M; Roth, Julian J; Roussos, Panos P; Ruderfer, Douglas M DM; Sánchez-Mora, Cristina C; Schulte, Eva C EC; Senner, Fanny F; Sharp, Sally S; Shilling, Paul D PD; Sigurdsson, Engilbert E; Sirignano, Lea L; Slaney, Claire C; Smeland, Olav B OB; Smith, Daniel J DJ; Sobell, Janet L JL; Søholm Hansen, Christine C; Soler Artigas, Maria M; Spijker, Anne T AT; Stein, Dan J DJ; Strauss, John S JS; Świątkowska, Beata B; Terao, Chikashi C; Thorgeirsson, Thorgeir E TE; Toma, Claudio C; Tooney, Paul P; Tsermpini, Evangelia-Eirini EE; Vawter, Marquis P MP; Vedder, Helmut H; Walters, James T R JTR; Witt, Stephanie H SH; Xi, Simon S; Xu, Wei W; Yang, Jessica Mei Kay JMK; Young, Allan H AH; Young, Hannah H; Zandi, Peter P PP; Zhou, Hang H; Zillich, Lea L; , ; Adolfsson, Rolf R; Agartz, Ingrid I; Alda, Martin M; Alfredsson, Lars L; Babadjanova, Gulja G; Backlund, Lena L; Baune, Bernhard T BT; Bellivier, Frank F; Bengesser, Susanne S; Berrettini, Wade H WH; Blackwood, Douglas H R DHR; Boehnke, Michael M; Børglum, Anders D AD; Breen, Gerome G; Carr, Vaughan J VJ; Catts, Stanley S; Corvin, Aiden A; Craddock, Nicholas N; Dannlowski, Udo U; Dikeos, Dimitris D; Esko, Tõnu T; Etain, Bruno B; Ferentinos, Panagiotis P; Frye, Mark M; Fullerton, Janice M JM; Gawlik, Micha M; Gershon, Elliot S ES; Goes, Fernando S FS; Green, Melissa J MJ; Grigoroiu-Serbanescu, Maria M; Hauser, Joanna J; Henskens, Frans F; Hillert, Jan J; Hong, Kyung Sue KS; Hougaard, David M DM; Hultman, Christina M CM; Hveem, Kristian K; Iwata, Nakao N; Jablensky, Assen V AV; Jones, Ian I; Jones, Lisa A LA; Kahn, René S RS; Kelsoe, John R JR; Kirov, George G; Landén, Mikael M; Leboyer, Marion M; Lewis, Cathryn M CM; Li, Qingqin S QS; Lissowska, Jolanta J; Lochner, Christine C; Loughland, Carmel C; Martin, Nicholas G NG; Mathews, Carol A CA; Mayoral, Fermin F; McElroy, Susan L SL; McIntosh, Andrew M AM; McMahon, Francis J FJ; Melle, Ingrid I; Michie, Patricia P; Milani, Lili L; Mitchell, Philip B PB; Morken, Gunnar G; Mors, Ole O; Mortensen, Preben Bo PB; Mowry, Bryan B; Müller-Myhsok, Bertram B; Myers, Richard M RM; Neale, Benjamin M BM; Nievergelt, Caroline M CM; Nordentoft, Merete M; Nöthen, Markus M MM; O'Donovan, Michael C MC; Oedegaard, Ketil J KJ; Olsson, Tomas T; Owen, Michael J MJ; Paciga, Sara A SA; Pantelis, Chris C; Pato, Carlos C; Pato, Michele T MT; Patrinos, George P GP; Perlis, Roy H RH; Posthuma, Danielle D; Ramos-Quiroga, Josep Antoni JA; Reif, Andreas A; Reininghaus, Eva Z EZ; Ribasés, Marta M; Rietschel, Marcella M; Ripke, Stephan S; Rouleau, Guy A GA; Saito, Takeo T; Schall, Ulrich U; Schalling, Martin M; Schofield, Peter R PR; Schulze, Thomas G TG; Scott, Laura J LJ; Scott, Rodney J RJ; Serretti, Alessandro A; Shannon Weickert, Cynthia C; Smoller, Jordan W JW; Stefansson, Hreinn H; Stefansson, Kari K; Stordal, Eystein E; Streit, Fabian F; Sullivan, Patrick F PF; Turecki, Gustavo G; Vaaler, Arne E AE; Vieta, Eduard E; Vincent, John B JB; Waldman, Irwin D ID; Weickert, Thomas W TW; Werge, Thomas T; Wray, Naomi R NR; Zwart, John-Anker JA; Biernacka, Joanna M JM; Nurnberger, John I JI; Cichon, Sven S; Edenberg, Howard J HJ; Stahl, Eli A EA; McQuillin, Andrew A; Di Florio, Arianna A; Ophoff, Roel A RA; Andreassen, Ole A OA
Publication Date: 2021-06

Variant appearance in text: rs13195402
PubMed Link: 34002096
Variant Present in the following documents:
  • Main text
  • nihms-1687813.pdf
  • NIHMS1687813-supplement-Supplementary_Note.pdf
View BVdb publication page



Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.

Nature Genetics
Mullins, Niamh N; Forstner, Andreas J AJ; O'Connell, Kevin S KS; Coombes, Brandon B; Coleman, Jonathan R I JRI; Qiao, Zhen Z; Als, Thomas D TD; Bigdeli, Tim B TB; Børte, Sigrid S; Bryois, Julien J; Charney, Alexander W AW; Drange, Ole Kristian OK; Gandal, Michael J MJ; Hagenaars, Saskia P SP; Ikeda, Masashi M; Kamitaki, Nolan N; Kim, Minsoo M; Krebs, Kristi K; Panagiotaropoulou, Georgia G; Schilder, Brian M BM; Sloofman, Laura G LG; Steinberg, Stacy S; Trubetskoy, Vassily V; Winsvold, Bendik S BS; Won, Hong-Hee HH; Abramova, Liliya L; Adorjan, Kristina K; Agerbo, Esben E; Al Eissa, Mariam M; Albani, Diego D; Alliey-Rodriguez, Ney N; Anjorin, Adebayo A; Antilla, Verneri V; Antoniou, Anastasia A; Awasthi, Swapnil S; Baek, Ji Hyun JH; Bækvad-Hansen, Marie M; Bass, Nicholas N; Bauer, Michael M; Beins, Eva C EC; Bergen, Sarah E SE; Birner, Armin A; Bøcker Pedersen, Carsten C; Bøen, Erlend E; Boks, Marco P MP; Bosch, Rosa R; Brum, Murielle M; Brumpton, Ben M BM; Brunkhorst-Kanaan, Nathalie N; Budde, Monika M; Bybjerg-Grauholm, Jonas J; Byerley, William W; Cairns, Murray M; Casas, Miquel M; Cervantes, Pablo P; Clarke, Toni-Kim TK; Cruceanu, Cristiana C; Cuellar-Barboza, Alfredo A; Cunningham, Julie J; Curtis, David D; Czerski, Piotr M PM; Dale, Anders M AM; Dalkner, Nina N; David, Friederike S FS; Degenhardt, Franziska F; Djurovic, Srdjan S; Dobbyn, Amanda L AL; Douzenis, Athanassios A; Elvsåshagen, Torbjørn T; Escott-Price, Valentina V; Ferrier, I Nicol IN; Fiorentino, Alessia A; Foroud, Tatiana M TM; Forty, Liz L; Frank, Josef J; Frei, Oleksandr O; Freimer, Nelson B NB; Frisén, Louise L; Gade, Katrin K; Garnham, Julie J; Gelernter, Joel J; Giørtz Pedersen, Marianne M; Gizer, Ian R IR; Gordon, Scott D SD; Gordon-Smith, Katherine K; Greenwood, Tiffany A TA; Grove, Jakob J; Guzman-Parra, José J; Ha, Kyooseob K; Haraldsson, Magnus M; Hautzinger, Martin M; Heilbronner, Urs U; Hellgren, Dennis D; Herms, Stefan S; Hoffmann, Per P; Holmans, Peter A PA; Huckins, Laura L; Jamain, Stéphane S; Johnson, Jessica S JS; Kalman, Janos L JL; Kamatani, Yoichiro Y; Kennedy, James L JL; Kittel-Schneider, Sarah S; Knowles, James A JA; Kogevinas, Manolis M; Koromina, Maria M; Kranz, Thorsten M TM; Kranzler, Henry R HR; Kubo, Michiaki M; Kupka, Ralph R; Kushner, Steven A SA; Lavebratt, Catharina C; Lawrence, Jacob J; Leber, Markus M; Lee, Heon-Jeong HJ; Lee, Phil H PH; Levy, Shawn E SE; Lewis, Catrin C; Liao, Calwing C; Lucae, Susanne S; Lundberg, Martin M; MacIntyre, Donald J DJ; Magnusson, Sigurdur H SH; Maier, Wolfgang W; Maihofer, Adam A; Malaspina, Dolores D; Maratou, Eirini E; Martinsson, Lina L; Mattheisen, Manuel M; McCarroll, Steven A SA; McGregor, Nathaniel W NW; McGuffin, Peter P; McKay, James D JD; Medeiros, Helena H; Medland, Sarah E SE; Millischer, Vincent V; Montgomery, Grant W GW; Moran, Jennifer L JL; Morris, Derek W DW; Mühleisen, Thomas W TW; O'Brien, Niamh N; O'Donovan, Claire C; Olde Loohuis, Loes M LM; Oruc, Lilijana L; Papiol, Sergi S; Pardiñas, Antonio F AF; Perry, Amy A; Pfennig, Andrea A; Porichi, Evgenia E; Potash, James B JB; Quested, Digby D; Raj, Towfique T; Rapaport, Mark H MH; DePaulo, J Raymond JR; Regeer, Eline J EJ; Rice, John P JP; Rivas, Fabio F; Rivera, Margarita M; Roth, Julian J; Roussos, Panos P; Ruderfer, Douglas M DM; Sánchez-Mora, Cristina C; Schulte, Eva C EC; Senner, Fanny F; Sharp, Sally S; Shilling, Paul D PD; Sigurdsson, Engilbert E; Sirignano, Lea L; Slaney, Claire C; Smeland, Olav B OB; Smith, Daniel J DJ; Sobell, Janet L JL; Søholm Hansen, Christine C; Soler Artigas, Maria M; Spijker, Anne T AT; Stein, Dan J DJ; Strauss, John S JS; Świątkowska, Beata B; Terao, Chikashi C; Thorgeirsson, Thorgeir E TE; Toma, Claudio C; Tooney, Paul P; Tsermpini, Evangelia-Eirini EE; Vawter, Marquis P MP; Vedder, Helmut H; Walters, James T R JTR; Witt, Stephanie H SH; Xi, Simon S; Xu, Wei W; Yang, Jessica Mei Kay JMK; Young, Allan H AH; Young, Hannah H; Zandi, Peter P PP; Zhou, Hang H; Zillich, Lea L; , ; Adolfsson, Rolf R; Agartz, Ingrid I; Alda, Martin M; Alfredsson, Lars L; Babadjanova, Gulja G; Backlund, Lena L; Baune, Bernhard T BT; Bellivier, Frank F; Bengesser, Susanne S; Berrettini, Wade H WH; Blackwood, Douglas H R DHR; Boehnke, Michael M; Børglum, Anders D AD; Breen, Gerome G; Carr, Vaughan J VJ; Catts, Stanley S; Corvin, Aiden A; Craddock, Nicholas N; Dannlowski, Udo U; Dikeos, Dimitris D; Esko, Tõnu T; Etain, Bruno B; Ferentinos, Panagiotis P; Frye, Mark M; Fullerton, Janice M JM; Gawlik, Micha M; Gershon, Elliot S ES; Goes, Fernando S FS; Green, Melissa J MJ; Grigoroiu-Serbanescu, Maria M; Hauser, Joanna J; Henskens, Frans F; Hillert, Jan J; Hong, Kyung Sue KS; Hougaard, David M DM; Hultman, Christina M CM; Hveem, Kristian K; Iwata, Nakao N; Jablensky, Assen V AV; Jones, Ian I; Jones, Lisa A LA; Kahn, René S RS; Kelsoe, John R JR; Kirov, George G; Landén, Mikael M; Leboyer, Marion M; Lewis, Cathryn M CM; Li, Qingqin S QS; Lissowska, Jolanta J; Lochner, Christine C; Loughland, Carmel C; Martin, Nicholas G NG; Mathews, Carol A CA; Mayoral, Fermin F; McElroy, Susan L SL; McIntosh, Andrew M AM; McMahon, Francis J FJ; Melle, Ingrid I; Michie, Patricia P; Milani, Lili L; Mitchell, Philip B PB; Morken, Gunnar G; Mors, Ole O; Mortensen, Preben Bo PB; Mowry, Bryan B; Müller-Myhsok, Bertram B; Myers, Richard M RM; Neale, Benjamin M BM; Nievergelt, Caroline M CM; Nordentoft, Merete M; Nöthen, Markus M MM; O'Donovan, Michael C MC; Oedegaard, Ketil J KJ; Olsson, Tomas T; Owen, Michael J MJ; Paciga, Sara A SA; Pantelis, Chris C; Pato, Carlos C; Pato, Michele T MT; Patrinos, George P GP; Perlis, Roy H RH; Posthuma, Danielle D; Ramos-Quiroga, Josep Antoni JA; Reif, Andreas A; Reininghaus, Eva Z EZ; Ribasés, Marta M; Rietschel, Marcella M; Ripke, Stephan S; Rouleau, Guy A GA; Saito, Takeo T; Schall, Ulrich U; Schalling, Martin M; Schofield, Peter R PR; Schulze, Thomas G TG; Scott, Laura J LJ; Scott, Rodney J RJ; Serretti, Alessandro A; Shannon Weickert, Cynthia C; Smoller, Jordan W JW; Stefansson, Hreinn H; Stefansson, Kari K; Stordal, Eystein E; Streit, Fabian F; Sullivan, Patrick F PF; Turecki, Gustavo G; Vaaler, Arne E AE; Vieta, Eduard E; Vincent, John B JB; Waldman, Irwin D ID; Weickert, Thomas W TW; Werge, Thomas T; Wray, Naomi R NR; Zwart, John-Anker JA; Biernacka, Joanna M JM; Nurnberger, John I JI; Cichon, Sven S; Edenberg, Howard J HJ; Stahl, Eli A EA; McQuillin, Andrew A; Di Florio, Arianna A; Ophoff, Roel A RA; Andreassen, Ole A OA
Publication Date: 2021-06

Variant appearance in text: rs13195402
PubMed Link: 34002096
Variant Present in the following documents:
  • Main text
  • nihms-1687813.pdf
  • NIHMS1687813-supplement-Supplementary_Note.pdf
View BVdb publication page



Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.

International Journal Of Molecular Sciences
Nedoszytko, Bogusław B; Sobalska-Kwapis, Marta M; Strapagiel, Dominik D; Lange, Magdalena M; Górska, Aleksandra A; Elberink, Joanne N G Oude JNGO; van Doormaal, Jasper J; Słomka, Marcin M; Kalinowski, Leszek L; Gruchała-Niedoszytko, Marta M; Nowicki, Roman J RJ; Valent, Peter P; Niedoszytko, Marek M
Publication Date: 2020-07-31

Variant appearance in text: rs13195402
PubMed Link: 32752121
Variant Present in the following documents:
  • Main text
  • ijms-21-05506.pdf
View BVdb publication page



Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology
Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ
Publication Date: 2020-04

Variant appearance in text: rs13195402
PubMed Link: 31884074
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integration of GWAS and brain eQTL identifies FLOT1 as a risk gene for major depressive disorder.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Zhong, Jingmei J; Li, Shiwu S; Zeng, Wanli W; Li, Xiaoyan X; Gu, Chunjie C; Liu, Jiewei J; Luo, Xiong-Jian XJ
Publication Date: 2019-08

Variant appearance in text: rs13195402
PubMed Link: 30771789
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive functional annotation of susceptibility SNPs prioritized 10 genes for schizophrenia.

Translational Psychiatry
Niu, Hui-Min HM; Yang, Ping P; Chen, Huan-Huan HH; Hao, Ruo-Han RH; Dong, Shan-Shan SS; Yao, Shi S; Chen, Xiao-Feng XF; Yan, Han H; Zhang, Yu-Jie YJ; Chen, Yi-Xiao YX; Jiang, Feng F; Yang, Tie-Lin TL; Guo, Yan Y
Publication Date: 2019-01-31

Variant appearance in text: rs13195402
PubMed Link: 30705251
Variant Present in the following documents:
  • Main text
  • 41398_2019_Article_398.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs13195402
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs13195402
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 5
  • pone.0123569.s008.xls, sheet 7
  • pone.0123569.s008.xls, sheet 8
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs13195402
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s2.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: rs13195402
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs13195402
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs13195402
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page