NSF c.1762-5996C>T

Variant ID: 17-44797919-C-T

NM_006178.3(NSF):c.1762-5996C>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2022-04-20

Variant appearance in text: rs199456
PubMed Link: 35443759
Variant Present in the following documents:
  • 41467_2022_29921_MOESM1_ESM.pdf
View BVdb publication page



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: rs199456
PubMed Link: 34957435
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs199456
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM1_ESM.pdf
View BVdb publication page



Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs199456
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM1_ESM.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: rs199456
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases.

Science Advances
Klarić, Lucija L; Tsepilov, Yakov A YA; Stanton, Chloe M CM; Mangino, Massimo M; Sikka, Timo Tõnis TT; Esko, Tõnu T; Pakhomov, Eugene E; Salo, Perttu P; Deelen, Joris J; McGurnaghan, Stuart J SJ; Keser, Toma T; Vučković, Frano F; Ugrina, Ivo I; Krištić, Jasminka J; Gudelj, Ivan I; Štambuk, Jerko J; Plomp, Rosina R; Pučić-Baković, Maja M; Pavić, Tamara T; Vilaj, Marija M; Trbojević-Akmačić, Irena I; Drake, Camilla C; Dobrinić, Paula P; Mlinarec, Jelena J; Jelušić, Barbara B; Richmond, Anne A; Timofeeva, Maria M; Grishchenko, Alexander K AK; Dmitrieva, Julia J; Bermingham, Mairead L ML; Sharapov, Sodbo Zh SZ; Farrington, Susan M SM; Theodoratou, Evropi E; Uh, Hae-Won HW; Beekman, Marian M; Slagboom, Eline P EP; Louis, Edouard E; Georges, Michel M; Wuhrer, Manfred M; Colhoun, Helen M HM; Dunlop, Malcolm G MG; Perola, Markus M; Fischer, Krista K; Polasek, Ozren O; Campbell, Harry H; Rudan, Igor I; Wilson, James F JF; Zoldoš, Vlatka V; Vitart, Veronique V; Spector, Tim T; Aulchenko, Yurii S YS; Lauc, Gordan G; Hayward, Caroline C
Publication Date: 2020-02

Variant appearance in text: rs199456
PubMed Link: 32128391
Variant Present in the following documents:
  • Main text
  • aax0301.pdf
View BVdb publication page



Structural diversity and African origin of the 17q21.31 inversion polymorphism.

Nature Genetics
Steinberg, Karyn Meltz KM; Antonacci, Francesca F; Sudmant, Peter H PH; Kidd, Jeffrey M JM; Campbell, Catarina D CD; Vives, Laura L; Malig, Maika M; Scheinfeldt, Laura L; Beggs, William W; Ibrahim, Muntaser M; Lema, Godfrey G; Nyambo, Thomas B TB; Omar, Sabah A SA; Bodo, Jean-Marie JM; Froment, Alain A; Donnelly, Michael P MP; Kidd, Kenneth K KK; Tishkoff, Sarah A SA; Eichler, Evan E EE
Publication Date: 2012-07-01

Variant appearance in text: rs199456
PubMed Link: 22751100
Variant Present in the following documents:
  • NIHMS382863-supplement-1.pdf
View BVdb publication page