NSF c.1628-1016A>G

Variant ID: 17-44790203-A-G

NM_006178.3(NSF):c.1628-1016A>G

This variant was identified in 12 publications

View GRCh38 version.




Publications:


SMetABF: A rapid algorithm for Bayesian GWAS meta-analysis with a large number of studies included.

Plos Computational Biology
Sun, Jianle J; Lyu, Ruiqi R; Deng, Luojia L; Li, Qianwen Q; Zhao, Yang Y; Zhang, Yue Y
Publication Date: 2022-03

Variant appearance in text: rs169201
PubMed Link: 35286307
Variant Present in the following documents:
  • Main text
  • pcbi.1009948.pdf
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GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome.

Cell Genomics
Bonfiglio, Ferdinando F; Liu, Xingrong X; Smillie, Christopher C; Pandit, Anita A; Kurilshikov, Alexander A; Bacigalupe, Rodrigo R; Zheng, Tenghao T; Nim, Hieu H; Garcia-Etxebarria, Koldo K; Bujanda, Luis L; Andreasson, Anna A; Agreus, Lars L; Walter, Susanna S; Abecasis, Gonçalo G; Eijsbouts, Chris C; Jostins, Luke L; Parkes, Miles M; Hughes, David A DA; Timpson, Nicholas N; Raes, Jeroen J; Franke, Andre A; Kennedy, Nicholas A NA; Regev, Aviv A; Zhernakova, Alexandra A; Simren, Magnus M; Camilleri, Michael M; D'Amato, Mauro M
Publication Date: 2021-12-08

Variant appearance in text: rs169201
PubMed Link: 34957435
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
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Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.

Journal Of Medical Genetics
Lee, Andrew A; Yang, Xin X; Tyrer, Jonathan J; Gentry-Maharaj, Aleksandra A; Ryan, Andy A; Mavaddat, Nasim N; Cunningham, Alex P AP; Carver, Tim T; Archer, Stephanie S; Leslie, Goska G; Kalsi, Jatinder J; Gaba, Faiza F; Manchanda, Ranjit R; Gayther, Simon S; Ramus, Susan J SJ; Walter, Fiona M FM; Tischkowitz, Marc M; Jacobs, Ian I; Menon, Usha U; Easton, Douglas F DF; Pharoah, Paul P; Antoniou, Antonis C AC
Publication Date: 2022-07

Variant appearance in text: rs169201
PubMed Link: 34844974
Variant Present in the following documents:
  • jmedgenet-2021-107904supp001.pdf
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Heritability Enrichment of Immunoglobulin G N-Glycosylation in Specific Tissues.

Frontiers In Immunology
Li, Xingang X; Wang, Hao H; Zhu, Yahong Y; Cao, Weijie W; Song, Manshu M; Wang, Youxin Y; Hou, Haifeng H; Lang, Minglin M; Guo, Xiuhua X; Tan, Xuerui X; Han, Jingdong J JJ; Wang, Wei W
Publication Date: 2021

Variant appearance in text: rs169201
PubMed Link: 34804021
Variant Present in the following documents:
  • Main text
  • fimmu-12-741705.pdf
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Replication of chromosomal loci involved in Parkinson's disease: A quantitative synthesis of GWAS.

Toxicology Reports
Rikos, Dimitrios D; Siokas, Vasileios V; Burykina, Tatyana I TI; Drakoulis, Nikolaos N; Dardiotis, Efthimios E; Zintzaras, Elias E
Publication Date: 2021

Variant appearance in text: rs169201
PubMed Link: 34712594
Variant Present in the following documents:
  • Main text
  • main.pdf
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Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults.

Nature Communications
Hofer, Edith E; Roshchupkin, Gennady V GV; Adams, Hieab H H HHH; Knol, Maria J MJ; Lin, Honghuang H; Li, Shuo S; Zare, Habil H; Ahmad, Shahzad S; Armstrong, Nicola J NJ; Satizabal, Claudia L CL; Bernard, Manon M; Bis, Joshua C JC; Gillespie, Nathan A NA; Luciano, Michelle M; Mishra, Aniket A; Scholz, Markus M; Teumer, Alexander A; Xia, Rui R; Jian, Xueqiu X; Mosley, Thomas H TH; Saba, Yasaman Y; Pirpamer, Lukas L; Seiler, Stephan S; Becker, James T JT; Carmichael, Owen O; Rotter, Jerome I JI; Psaty, Bruce M BM; Lopez, Oscar L OL; Amin, Najaf N; van der Lee, Sven J SJ; Yang, Qiong Q; Himali, Jayandra J JJ; Maillard, Pauline P; Beiser, Alexa S AS; DeCarli, Charles C; Karama, Sherif S; Lewis, Lindsay L; Harris, Mat M; Bastin, Mark E ME; Deary, Ian J IJ; Veronica Witte, A A; Beyer, Frauke F; Loeffler, Markus M; Mather, Karen A KA; Schofield, Peter R PR; Thalamuthu, Anbupalam A; Kwok, John B JB; Wright, Margaret J MJ; Ames, David D; Trollor, Julian J; Jiang, Jiyang J; Brodaty, Henry H; Wen, Wei W; Vernooij, Meike W MW; Hofman, Albert A; Uitterlinden, André G AG; Niessen, Wiro J WJ; Wittfeld, Katharina K; Bülow, Robin R; Völker, Uwe U; Pausova, Zdenka Z; Bruce Pike, G G; Maingault, Sophie S; Crivello, Fabrice F; Tzourio, Christophe C; Amouyel, Philippe P; Mazoyer, Bernard B; Neale, Michael C MC; Franz, Carol E CE; Lyons, Michael J MJ; Panizzon, Matthew S MS; Andreassen, Ole A OA; Dale, Anders M AM; Logue, Mark M; Grasby, Katrina L KL; Jahanshad, Neda N; Painter, Jodie N JN; Colodro-Conde, Lucía L; Bralten, Janita J; Hibar, Derrek P DP; Lind, Penelope A PA; Pizzagalli, Fabrizio F; Stein, Jason L JL; Thompson, Paul M PM; Medland, Sarah E SE; , ; Sachdev, Perminder S PS; Kremen, William S WS; Wardlaw, Joanna M JM; Villringer, Arno A; van Duijn, Cornelia M CM; Grabe, Hans J HJ; Longstreth, William T WT; Fornage, Myriam M; Paus, Tomas T; Debette, Stephanie S; Ikram, M Arfan MA; Schmidt, Helena H; Schmidt, Reinhold R; Seshadri, Sudha S
Publication Date: 2020-09-22

Variant appearance in text: rs169201
PubMed Link: 32963231
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_18367.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs169201
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.

Jama Neurology
Witoelar, Aree A; Jansen, Iris E IE; Wang, Yunpeng Y; Desikan, Rahul S RS; Gibbs, J Raphael JR; Blauwendraat, Cornelis C; Thompson, Wesley K WK; Hernandez, Dena G DG; Djurovic, Srdjan S; Schork, Andrew J AJ; Bettella, Francesco F; Ellinghaus, David D; Franke, Andre A; Lie, Benedicte A BA; McEvoy, Linda K LK; Karlsen, Tom H TH; Lesage, Suzanne S; Morris, Huw R HR; Brice, Alexis A; Wood, Nicholas W NW; Heutink, Peter P; Hardy, John J; Singleton, Andrew B AB; Dale, Anders M AM; Gasser, Thomas T; Andreassen, Ole A OA; Sharma, Manu M; ,
Publication Date: 2017-07-01

Variant appearance in text: rs169201
PubMed Link: 28586827
Variant Present in the following documents:
  • Main text
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Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs.

Bmc Genomics
Zhang, Xiaoling X; Gierman, Hinco J HJ; Levy, Daniel D; Plump, Andrew A; Dobrin, Radu R; Goring, Harald H H HH; Curran, Joanne E JE; Johnson, Matthew P MP; Blangero, John J; Kim, Stuart K SK; O'Donnell, Christopher J CJ; Emilsson, Valur V; Johnson, Andrew D AD
Publication Date: 2014-06-27

Variant appearance in text: rs169201
PubMed Link: 24973796
Variant Present in the following documents:
  • Main text
  • 12864_2013_Article_6258.pdf
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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Plos Genetics
Couch, Fergus J FJ; Wang, Xianshu X; McGuffog, Lesley L; Lee, Andrew A; Olswold, Curtis C; Kuchenbaecker, Karoline B KB; Soucy, Penny P; Fredericksen, Zachary Z; Barrowdale, Daniel D; Dennis, Joe J; Gaudet, Mia M MM; Dicks, Ed E; Kosel, Matthew M; Healey, Sue S; Sinilnikova, Olga M OM; Lee, Adam A; Bacot, François F; Vincent, Daniel D; Hogervorst, Frans B L FB; Peock, Susan S; Stoppa-Lyonnet, Dominique D; Jakubowska, Anna A; , ; Radice, Paolo P; Schmutzler, Rita Katharina RK; , ; Domchek, Susan M SM; Piedmonte, Marion M; Singer, Christian F CF; Friedman, Eitan E; Thomassen, Mads M; , ; Hansen, Thomas V O TV; Neuhausen, Susan L SL; Szabo, Csilla I CI; Blanco, Ignacio I; Greene, Mark H MH; Karlan, Beth Y BY; Garber, Judy J; Phelan, Catherine M CM; Weitzel, Jeffrey N JN; Montagna, Marco M; Olah, Edith E; Andrulis, Irene L IL; Godwin, Andrew K AK; Yannoukakos, Drakoulis D; Goldgar, David E DE; Caldes, Trinidad T; Nevanlinna, Heli H; Osorio, Ana A; Terry, Mary Beth MB; Daly, Mary B MB; van Rensburg, Elizabeth J EJ; Hamann, Ute U; Ramus, Susan J SJ; Toland, Amanda Ewart AE; Caligo, Maria A MA; Olopade, Olufunmilayo I OI; Tung, Nadine N; Claes, Kathleen K; Beattie, Mary S MS; Southey, Melissa C MC; Imyanitov, Evgeny N EN; Tischkowitz, Marc M; Janavicius, Ramunas R; John, Esther M EM; Kwong, Ava A; Diez, Orland O; Balmaña, Judith J; Barkardottir, Rosa B RB; Arun, Banu K BK; Rennert, Gad G; Teo, Soo-Hwang SH; Ganz, Patricia A PA; Campbell, Ian I; van der Hout, Annemarie H AH; van Deurzen, Carolien H M CH; Seynaeve, Caroline C; Gómez Garcia, Encarna B EB; van Leeuwen, Flora E FE; Meijers-Heijboer, Hanne E J HE; Gille, Johannes J P JJ; Ausems, Margreet G E M MG; Blok, Marinus J MJ; Ligtenberg, Marjolijn J L MJ; Rookus, Matti A MA; Devilee, Peter P; Verhoef, Senno S; van Os, Theo A M TA; Wijnen, Juul T JT; , ; , ; Frost, Debra D; Ellis, Steve S; Fineberg, Elena E; Platte, Radka R; Evans, D Gareth DG; Izatt, Louise L; Eeles, Rosalind A RA; Adlard, Julian J; Eccles, Diana M DM; Cook, Jackie J; Brewer, Carole C; Douglas, Fiona F; Hodgson, Shirley S; Morrison, Patrick J PJ; Side, Lucy E LE; Donaldson, Alan A; Houghton, Catherine C; Rogers, Mark T MT; Dorkins, Huw H; Eason, Jacqueline J; Gregory, Helen H; McCann, Emma E; Murray, Alex A; Calender, Alain A; Hardouin, Agnès A; Berthet, Pascaline P; Delnatte, Capucine C; Nogues, Catherine C; Lasset, Christine C; Houdayer, Claude C; Leroux, Dominique D; Rouleau, Etienne E; Prieur, Fabienne F; Damiola, Francesca F; Sobol, Hagay H; Coupier, Isabelle I; Venat-Bouvet, Laurence L; Castera, Laurent L; Gauthier-Villars, Marion M; Léoné, Mélanie M; Pujol, Pascal P; Mazoyer, Sylvie S; Bignon, Yves-Jean YJ; , ; Złowocka-Perłowska, Elżbieta E; Gronwald, Jacek J; Lubinski, Jan J; Durda, Katarzyna K; Jaworska, Katarzyna K; Huzarski, Tomasz T; Spurdle, Amanda B AB; Viel, Alessandra A; Peissel, Bernard B; Bonanni, Bernardo B; Melloni, Giulia G; Ottini, Laura L; Papi, Laura L; Varesco, Liliana L; Tibiletti, Maria Grazia MG; Peterlongo, Paolo P; Volorio, Sara S; Manoukian, Siranoush S; Pensotti, Valeria V; Arnold, Norbert N; Engel, Christoph C; Deissler, Helmut H; Gadzicki, Dorothea D; Gehrig, Andrea A; Kast, Karin K; Rhiem, Kerstin K; Meindl, Alfons A; Niederacher, Dieter D; Ditsch, Nina N; Plendl, Hansjoerg H; Preisler-Adams, Sabine S; Engert, Stefanie S; Sutter, Christian C; Varon-Mateeva, Raymonda R; Wappenschmidt, Barbara B; Weber, Bernhard H F BH; Arver, Brita B; Stenmark-Askmalm, Marie M; Loman, Niklas N; Rosenquist, Richard R; Einbeigi, Zakaria Z; Nathanson, Katherine L KL; Rebbeck, Timothy R TR; Blank, Stephanie V SV; Cohn, David E DE; Rodriguez, Gustavo C GC; Small, Laurie L; Friedlander, Michael M; Bae-Jump, Victoria L VL; Fink-Retter, Anneliese A; Rappaport, Christine C; Gschwantler-Kaulich, Daphne D; Pfeiler, Georg G; Tea, Muy-Kheng MK; Lindor, Noralane M NM; Kaufman, Bella B; Shimon Paluch, Shani S; Laitman, Yael Y; Skytte, Anne-Bine AB; Gerdes, Anne-Marie AM; Pedersen, Inge Sokilde IS; Moeller, Sanne Traasdahl ST; Kruse, Torben A TA; Jensen, Uffe Birk UB; Vijai, Joseph J; Sarrel, Kara K; Robson, Mark M; Kauff, Noah N; Mulligan, Anna Marie AM; Glendon, Gord G; Ozcelik, Hilmi H; Ejlertsen, Bent B; Nielsen, Finn C FC; Jønson, Lars L; Andersen, Mette K MK; Ding, Yuan Chun YC; Steele, Linda L; Foretova, Lenka L; Teulé, Alex A; Lazaro, Conxi C; Brunet, Joan J; Pujana, Miquel Angel MA; Mai, Phuong L PL; Loud, Jennifer T JT; Walsh, Christine C; Lester, Jenny J; Orsulic, Sandra S; Narod, Steven A SA; Herzog, Josef J; Sand, Sharon R SR; Tognazzo, Silvia S; Agata, Simona S; Vaszko, Tibor T; Weaver, Joellen J; Stavropoulou, Alexandra V AV; Buys, Saundra S SS; Romero, Atocha A; de la Hoya, Miguel M; Aittomäki, Kristiina K; Muranen, Taru A TA; Duran, Mercedes M; Chung, Wendy K WK; Lasa, Adriana A; Dorfling, Cecilia M CM; Miron, Alexander A; , ; Benitez, Javier J; Senter, Leigha L; Huo, Dezheng D; Chan, Salina B SB; Sokolenko, Anna P AP; Chiquette, Jocelyne J; Tihomirova, Laima L; Friebel, Tara M TM; Agnarsson, Bjarni A BA; Lu, Karen H KH; Lejbkowicz, Flavio F; James, Paul A PA; Hall, Per P; Dunning, Alison M AM; Tessier, Daniel D; Cunningham, Julie J; Slager, Susan L SL; Wang, Chen C; Hart, Steven S; Stevens, Kristen K; Simard, Jacques J; Pastinen, Tomi T; Pankratz, Vernon S VS; Offit, Kenneth K; Easton, Douglas F DF; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; ,
Publication Date: 2013

Variant appearance in text: rs169201
PubMed Link: 23544013
Variant Present in the following documents:
  • Main text
  • pgen.1003212.pdf
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A robust and efficient statistical method for genetic association studies using case and control samples from multiple cohorts.

Bmc Genomics
Wang, Minghui M; Wang, Lin L; Jiang, Ning N; Jia, Tianye T; Luo, Zewei Z
Publication Date: 2013-02-08

Variant appearance in text: rs169201
PubMed Link: 23394771
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study confirms extant PD risk loci among the Dutch.

European Journal Of Human Genetics : Ejhg
Simón-Sánchez, Javier J; van Hilten, Jacobus J JJ; van de Warrenburg, Bart B; Post, Bart B; Berendse, Henk W HW; Arepalli, Sampath S; Hernandez, Dena G DG; de Bie, Rob M A RM; Velseboer, Daan D; Scheffer, Hans H; Bloem, Bas B; van Dijk, Karin D KD; Rivadeneira, Fernando F; Hofman, Albert A; Uitterlinden, André G AG; Rizzu, Patrizia P; Bochdanovits, Zoltan Z; Singleton, Andrew B AB; Heutink, Peter P
Publication Date: 2011-06

Variant appearance in text: rs169201
PubMed Link: 21248740
Variant Present in the following documents:
  • Main text
View BVdb publication page