NSF c.1471-1016G>C

Variant ID: 17-44787313-G-C

NM_006178.3(NSF):c.1471-1016G>C

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Whole Genome DNA and RNA Sequencing of Whole Blood Elucidates the Genetic Architecture of Gene Expression Underlying a Wide Range of Diseases.

Research Square
Liu, Chunyu C; Joehanes, Roby R; Ma, Jiantao J; Wang, Yuxuan Y; Sun, Xianbang X; Keshawarz, Amena A; Sooda, Meera M; Huan, Tianxiao T; Hwang, Shih-Jen SJ; Bui, Helena H; Tejada, Brandon B; Munson, Peter J PJ; Cumhur, Demirkale D; Heard-Costa, Nancy L NL; Pitsillides, Achilleas N AN; Peloso, Gina M GM; Feolo, Michael M; Sharopova, Nataliya N; Vasan, Ramachandran S RS; Levy, Daniel D
Publication Date: 2022-05-31

Variant appearance in text: rs538628
PubMed Link: 35664994
Variant Present in the following documents:
  • nihpp-rs1598646v1.pdf
View BVdb publication page



Whole Genome DNA and RNA Sequencing of Whole Blood Elucidates the Genetic Architecture of Gene Expression Underlying a Wide Range of Diseases.

Medrxiv : The Preprint Server For Health Sciences
Liu, Chunyu C; Joehanes, Roby R; Ma, Jiantao J; Wang, Yuxuan Y; Sun, Xianbang X; Keshawarz, Amena A; Sooda, Meera M; Huan, Tianxiao T; Hwang, Shih-Jen SJ; Bui, Helena H; Tejada, Brandon B; Munson, Peter J PJ; Cumhur, Demirkale D; Heard-Costa, Nancy L NL; Pitsillides, Achilleas N AN; Peloso, Gina M GM; Feolo, Michael M; Sharopova, Nataliya N; Vasan, Ramachandran S RS; Levy, Daniel D
Publication Date: 2022-05-03

Variant appearance in text: rs538628
PubMed Link: 35547845
Variant Present in the following documents:
  • Main text
  • nihpp-2022.04.13.22273841v2.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: rs538628
PubMed Link: 34957435
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Identifying Risk Genes and Interpreting Pathogenesis for Parkinson's Disease by a Multiomics Analysis.

Genes
Cheng, Wen-Wen WW; Zhu, Qiang Q; Zhang, Hong-Yu HY
Publication Date: 2020-09-21

Variant appearance in text: rs538628
PubMed Link: 32967142
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs538628
PubMed Link: 32963231
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_18367.pdf
View BVdb publication page



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: rs538628
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Publication Date: 2020-08-05

Variant appearance in text: rs538628
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



Genetic prediction of male pattern baldness.

Plos Genetics
Hagenaars, Saskia P SP; Hill, W David WD; Harris, Sarah E SE; Ritchie, Stuart J SJ; Davies, Gail G; Liewald, David C DC; Gale, Catharine R CR; Porteous, David J DJ; Deary, Ian J IJ; Marioni, Riccardo E RE
Publication Date: 2017-02

Variant appearance in text: rs538628
PubMed Link: 28196072
Variant Present in the following documents:
  • Main text
  • pgen.1006594.pdf
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Molecular mechanisms underlying variations in lung function: a systems genetics analysis.

The Lancet. Respiratory Medicine
Obeidat, Ma'en M; Hao, Ke K; Bossé, Yohan Y; Nickle, David C DC; Nie, Yunlong Y; Postma, Dirkje S DS; Laviolette, Michel M; Sandford, Andrew J AJ; Daley, Denise D DD; Hogg, James C JC; Elliott, W Mark WM; Fishbane, Nick N; Timens, Wim W; Hysi, Pirro G PG; Kaprio, Jaakko J; Wilson, James F JF; Hui, Jennie J; Rawal, Rajesh R; Schulz, Holger H; Stubbe, Beate B; Hayward, Caroline C; Polasek, Ozren O; Järvelin, Marjo-Riitta MR; Zhao, Jing Hua JH; Jarvis, Deborah D; Kähönen, Mika M; Franceschini, Nora N; North, Kari E KE; Loth, Daan W DW; Brusselle, Guy G GG; Smith, Albert Vernon AV; Gudnason, Vilmundur V; Bartz, Traci M TM; Wilk, Jemma B JB; O'Connor, George T GT; Cassano, Patricia A PA; Tang, Wenbo W; Wain, Louise V LV; Soler Artigas, María M; Gharib, Sina A SA; Strachan, David P DP; Sin, Don D DD; Tobin, Martin D MD; London, Stephanie J SJ; Hall, Ian P IP; Paré, Peter D PD
Publication Date: 2015-10

Variant appearance in text: rs538628
PubMed Link: 26404118
Variant Present in the following documents:
  • Main text
View BVdb publication page