NSF c.1908+2701A>G

Variant ID: 17-44809001-A-G

NM_006178.3(NSF):c.1908+2701A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: rs199448
PubMed Link: 34957435
Variant Present in the following documents:
  • mmc2.pdf
  • mmc1.pdf
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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: rs199448
PubMed Link: 32967142
Variant Present in the following documents:
  • Main text
  • genes-11-01100.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: rs199448
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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A meta-analysis of gene expression quantitative trait loci in brain.

Translational Psychiatry
Kim, Y Y; Xia, K K; Tao, R R; Giusti-Rodriguez, P P; Vladimirov, V V; van den Oord, E E; Sullivan, P F PF
Publication Date: 2014-10-07

Variant appearance in text: rs199448
PubMed Link: 25290266
Variant Present in the following documents:
  • Main text
  • tp201496a.pdf
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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: rs199448
PubMed Link: 24973796
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mapping the genetic architecture of gene regulation in whole blood.

Plos One
Schramm, Katharina K; Marzi, Carola C; Schurmann, Claudia C; Carstensen, Maren M; Reinmaa, Eva E; Biffar, Reiner R; Eckstein, Gertrud G; Gieger, Christian C; Grabe, Hans-Jörgen HJ; Homuth, Georg G; Kastenmüller, Gabriele G; Mägi, Reedik R; Metspalu, Andres A; Mihailov, Evelin E; Peters, Annette A; Petersmann, Astrid A; Roden, Michael M; Strauch, Konstantin K; Suhre, Karsten K; Teumer, Alexander A; Völker, Uwe U; Völzke, Henry H; Wang-Sattler, Rui R; Waldenberger, Melanie M; Meitinger, Thomas T; Illig, Thomas T; Herder, Christian C; Grallert, Harald H; Prokisch, Holger H
Publication Date: 2014

Variant appearance in text: rs199448
PubMed Link: 24740359
Variant Present in the following documents:
  • Main text
  • pone.0093844.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: rs199448
PubMed Link: 22751100
Variant Present in the following documents:
  • Main text
  • nihms382863.pdf
  • NIHMS382863-supplement-1.pdf
View BVdb publication page