PYROXD2 c.625+249A>G

Variant ID: 10-100156853-T-C

NM_032709.2(PYROXD2):c.625+249A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs7072216
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance.

Scientific Reports
Al-Khelaifi, Fatima F; Diboun, Ilhame I; Donati, Francesco F; Botrè, Francesco F; Abraham, David D; Hingorani, Aroon A; Albagha, Omar O; Georgakopoulos, Costas C; Suhre, Karsten K; Yousri, Noha A NA; Elrayess, Mohamed A MA
Publication Date: 2019-12-27

Variant appearance in text: rs7072216
PubMed Link: 31882771
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_56496.pdf
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Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.

Bmc Medical Genetics
Guo, Yiran Y; Hwang, Liang-Dar LD; Li, Jiankang J; Eades, Jason J; Yu, Chung Wen CW; Mansfield, Corrine C; Burdick-Will, Alexis A; Chang, Xiao X; Chen, Yulan Y; Duke, Fujiko F FF; Zhang, Jianguo J; Fakharzadeh, Steven S; Fennessey, Paul P; Keating, Brendan J BJ; Jiang, Hui H; Hakonarson, Hakon H; Reed, Danielle R DR; Preti, George G
Publication Date: 2017-02-15

Variant appearance in text: rs7072216
PubMed Link: 28196478
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_369.pdf
View BVdb publication page



Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.

Plos Genetics
Rueedi, Rico R; Ledda, Mirko M; Nicholls, Andrew W AW; Salek, Reza M RM; Marques-Vidal, Pedro P; Morya, Edgard E; Sameshima, Koichi K; Montoliu, Ivan I; Da Silva, Laeticia L; Collino, Sebastiano S; Martin, François-Pierre FP; Rezzi, Serge S; Steinbeck, Christoph C; Waterworth, Dawn M DM; Waeber, Gérard G; Vollenweider, Peter P; Beckmann, Jacques S JS; Le Coutre, Johannes J; Mooser, Vincent V; Bergmann, Sven S; Genick, Ulrich K UK; Kutalik, Zoltán Z
Publication Date: 2014-02

Variant appearance in text: rs7072216
PubMed Link: 24586186
Variant Present in the following documents:
  • Main text
  • pgen.1004132.pdf
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Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations.

Genome Medicine
Robinette, Steven L SL; Holmes, Elaine E; Nicholson, Jeremy K JK; Dumas, Marc E ME
Publication Date: 2012-04-30

Variant appearance in text: rs7072216
PubMed Link: 22546284
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.

Plos Genetics
Nicholson, George G; Rantalainen, Mattias M; Li, Jia V JV; Maher, Anthony D AD; Malmodin, Daniel D; Ahmadi, Kourosh R KR; Faber, Johan H JH; Barrett, Amy A; Min, Josine L JL; Rayner, N William NW; Toft, Henrik H; Krestyaninova, Maria M; Viksna, Juris J; Neogi, Sudeshna Guha SG; Dumas, Marc-Emmanuel ME; Sarkans, Ugis U; , ; Donnelly, Peter P; Illig, Thomas T; Adamski, Jerzy J; Suhre, Karsten K; Allen, Maxine M; Zondervan, Krina T KT; Spector, Tim D TD; Nicholson, Jeremy K JK; Lindon, John C JC; Baunsgaard, Dorrit D; Holmes, Elaine E; McCarthy, Mark I MI; Holmes, Chris C CC
Publication Date: 2011-09

Variant appearance in text: rs7072216
PubMed Link: 21931564
Variant Present in the following documents:
  • Main text
  • pgen.1002270.pdf
View BVdb publication page