NSF c.1762-2131G>A

Variant ID: 17-44801784-G-A

NM_006178.3(NSF):c.1762-2131G>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Mendelian Randomization and Transcriptome-Wide Association Analysis Identified Genes That Were Pleiotropically Associated with Intraocular Pressure.

Genes
Yang, Zhikun Z; Zhang, Zhewei Z; Zhu, Yining Y; Yuan, Guangwei G; Yang, Jingyun J; Yu, Weihong W
Publication Date: 2023-04-30

Variant appearance in text: rs199451
PubMed Link: 37239387
Variant Present in the following documents:
  • genes-14-01027.pdf
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Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.

Nature Genetics
de Klein, Niek N; Tsai, Ellen A EA; Vochteloo, Martijn M; Baird, Denis D; Huang, Yunfeng Y; Chen, Chia-Yen CY; van Dam, Sipko S; Oelen, Roy R; Deelen, Patrick P; Bakker, Olivier B OB; El Garwany, Omar O; Ouyang, Zhengyu Z; Marshall, Eric E EE; Zavodszky, Maria I MI; van Rheenen, Wouter W; Bakker, Mark K MK; Veldink, Jan J; Gaunt, Tom R TR; Runz, Heiko H; Franke, Lude L; Westra, Harm-Jan HJ
Publication Date: 2023-02-23

Variant appearance in text: rs199451
PubMed Link: 36823318
Variant Present in the following documents:
  • Main text
  • 41588_2023_Article_1300.pdf
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Neolithic expansion and the 17q21.31 inversion in Iberia: an evolutionary approach to H2 haplotype distribution in the Near East and Europe.

Molecular Genetics And Genomics : Mgg
Espinosa, Ibone I; Alfonso-Sánchez, Miguel A MA; Gómez-Pérez, Luis L; Peña, Jose A JA
Publication Date: 2022-11-10

Variant appearance in text: rs199451
PubMed Link: 36355195
Variant Present in the following documents:
  • Main text
  • 438_2022_Article_1969.pdf
  • 438_2022_1969_MOESM1_ESM.pdf
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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: rs199451
PubMed Link: 35443759
Variant Present in the following documents:
  • 41467_2022_29921_MOESM1_ESM.pdf
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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: rs199451
PubMed Link: 35286307
Variant Present in the following documents:
  • Main text
  • pcbi.1009948.pdf
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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: rs199451
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: rs199451
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: rs199451
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Tau haplotypes support the Asian ancestry of the Roma population settled in the Basque Country.

Heredity
Alfonso-Sánchez, Miguel A MA; Espinosa, Ibone I; Gómez-Pérez, Luis L; Poveda, Alaitz A; Rebato, Esther E; Peña, Jose A JA
Publication Date: 2018-01

Variant appearance in text: rs199451
PubMed Link: 29225349
Variant Present in the following documents:
  • Main text
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: rs199451
PubMed Link: 22751100
Variant Present in the following documents:
  • Main text
  • nihms382863.pdf
  • NIHMS382863-supplement-1.pdf
View BVdb publication page