SHROOM3 c.168+54767G>A

Variant ID: 4-77412140-G-A

NM_020859.3(SHROOM3):c.168+54767G>A

This variant was identified in 25 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: rs13146355
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.

Nature Communications
Dixon, Peter H PH; Levine, Adam P AP; Cebola, Inês I; Chan, Melanie M Y MMY; Amin, Aliya S AS; Aich, Anshul A; Mozere, Monika M; Maude, Hannah H; Mitchell, Alice L AL; Zhang, Jun J; , ; , ; Chambers, Jenny J; Syngelaki, Argyro A; Donnelly, Jennifer J; Cooley, Sharon S; Geary, Michael M; Nicolaides, Kypros K; Thorsell, Malin M; Hague, William M WM; Estiu, Maria Cecilia MC; Marschall, Hanns-Ulrich HU; Gale, Daniel P DP; Williamson, Catherine C
Publication Date: 2022-08-17

Variant appearance in text: rs13146355
PubMed Link: 35977952
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29931.pdf
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Causal Relationship of Genetically Predicted Serum Micronutrients Levels With Sarcopenia: A Mendelian Randomization Study.

Frontiers In Nutrition
Sha, Tingting T; Li, Wei W; He, Hongyi H; Wu, Jing J; Wang, Yilun Y; Li, Hui H
Publication Date: 2022

Variant appearance in text: rs13146355
PubMed Link: 35811987
Variant Present in the following documents:
  • Main text
  • fnut-09-913155.pdf
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An early prediction model for chronic kidney disease.

Scientific Reports
Zhao, Jing J; Zhang, Yuan Y; Qiu, Jiali J; Zhang, Xiaodan X; Wei, Fengjiang F; Feng, Jiayi J; Chen, Chen C; Zhang, Kai K; Feng, Shuzhi S; Li, Wei-Dong WD
Publication Date: 2022-02-17

Variant appearance in text: rs13146355
PubMed Link: 35177746
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_6665.pdf
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MR-PheWAS for the causal effects of serum magnesium on multiple disease outcomes in Caucasian descent.

Iscience
Li, Longman L; Yang, Wenjun W; Huang, Lulu L; Feng, Xiuming X; Cheng, Hong H; Ge, Xiaoting X; Zan, Gaohui G; Tan, Yanli Y; Xiao, Lili L; Liu, Chaoqun C; Chen, Xing X; Mo, Zengnan Z; Yang, Xiaobo X
Publication Date: 2021-10-22

Variant appearance in text: rs13146355
PubMed Link: 34703991
Variant Present in the following documents:
  • Main text
  • main.pdf
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Association of Serum Magnesium Levels With Risk of Intracranial Aneurysm: A Mendelian Randomization Study.

Neurology
Larsson, Susanna C SC; Gill, Dipender D
Publication Date: 2021-07-27

Variant appearance in text: rs13146355
PubMed Link: 34158381
Variant Present in the following documents:
  • NEUROLOGY2021170466.pdf
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Implementation of a Renal Precision Medicine Program: Clinician Attitudes and Acceptance.

Life (Basel, Switzerland)
Spiech, Katherine M KM; Tripathy, Purnima R PR; Woodcock, Alex M AM; Sheth, Nehal A NA; Collins, Kimberly S KS; Kannegolla, Karthik K; Sinha, Arjun D AD; Sharfuddin, Asif A AA; Pratt, Victoria M VM; Khalid, Myda M; Hains, David S DS; Moe, Sharon M SM; Skaar, Todd C TC; Moorthi, Ranjani N RN; Eadon, Michael T MT
Publication Date: 2020-03-26

Variant appearance in text: rs13146355
PubMed Link: 32224869
Variant Present in the following documents:
  • Main text
  • life-10-00032.pdf
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Assessing Causality in Associations of Serum Calcium and Magnesium Levels With Heart Failure: A Two-Sample Mendelian Randomization Study.

Frontiers In Genetics
Helte, Emilie E; Åkesson, Agneta A; Larsson, Susanna C SC
Publication Date: 2019

Variant appearance in text: rs13146355
PubMed Link: 31708976
Variant Present in the following documents:
  • Main text
  • fgene-10-01069.pdf
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Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

Nature Communications
Hellwege, Jacklyn N JN; Velez Edwards, Digna R DR; Giri, Ayush A; Qiu, Chengxiang C; Park, Jihwan J; Torstenson, Eric S ES; Keaton, Jacob M JM; Wilson, O D OD; Robinson-Cohen, Cassianne C; Chung, Cecilia P CP; Roumie, Christianne L CL; Klarin, Derek D; Damrauer, Scott M SM; DuVall, Scott L SL; Siew, Edward E; Akwo, Elvis A EA; Wuttke, Matthias M; Gorski, Mathias M; Li, Man M; Li, Yong Y; Gaziano, J Michael JM; Wilson, Peter W F PWF; Tsao, Philip S PS; O'Donnell, Christopher J CJ; Kovesdy, Csaba P CP; Pattaro, Cristian C; Köttgen, Anna A; Susztak, Katalin K; Edwards, Todd L TL; Hung, Adriana M AM
Publication Date: 2019-08-26

Variant appearance in text: rs13146355
PubMed Link: 31451708
Variant Present in the following documents:
  • 41467_2019_11704_MOESM1_ESM.pdf
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Mineral Nutrition and the Risk of Chronic Diseases: A Mendelian Randomization Study.

Nutrients
Cheng, Wen-Wen WW; Zhu, Qiang Q; Zhang, Hong-Yu HY
Publication Date: 2019-02-12

Variant appearance in text: rs13146355
PubMed Link: 30759836
Variant Present in the following documents:
  • nutrients-11-00378-s001.pdf
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Analytical validity of a genotyping assay for use with personalized antihypertensive and chronic kidney disease therapy.

Pharmacogenetics And Genomics
Collins, Kimberly S KS; Pratt, Victoria M VM; Stansberry, Wesley M WM; Medeiros, Elizabeth B EB; Kannegolla, Karthik K; Swart, Marelize M; Skaar, Todd C TC; Chapman, Arlene B AB; Decker, Brian S BS; Moorthi, Ranjani N RN; Eadon, Michael T MT
Publication Date: 2019-01

Variant appearance in text: SHROOM3: 168+54767G>A; rs13146355
PubMed Link: 30489456
Variant Present in the following documents:
  • Main text
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Molecular insights into genome-wide association studies of chronic kidney disease-defining traits.

Nature Communications
Xu, Xiaoguang X; Eales, James M JM; Akbarov, Artur A; Guo, Hui H; Becker, Lorenz L; Talavera, David D; Ashraf, Fehzan F; Nawaz, Jabran J; Pramanik, Sanjeev S; Bowes, John J; Jiang, Xiao X; Dormer, John J; Denniff, Matthew M; Antczak, Andrzej A; Szulinska, Monika M; Wise, Ingrid I; Prestes, Priscilla R PR; Glyda, Maciej M; Bogdanski, Pawel P; Zukowska-Szczechowska, Ewa E; Berzuini, Carlo C; Woolf, Adrian S AS; Samani, Nilesh J NJ; Charchar, Fadi J FJ; Tomaszewski, Maciej M
Publication Date: 2018-11-22

Variant appearance in text: rs13146355
PubMed Link: 30467309
Variant Present in the following documents:
  • 41467_2018_Article_7260.pdf
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Genomic approaches in the search for molecular biomarkers in chronic kidney disease.

Journal Of Translational Medicine
Cañadas-Garre, M M; Anderson, K K; McGoldrick, J J; Maxwell, A P AP; McKnight, A J AJ
Publication Date: 2018-10-25

Variant appearance in text: rs13146355
PubMed Link: 30359254
Variant Present in the following documents:
  • Main text
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Serum magnesium levels and risk of coronary artery disease: Mendelian randomisation study.

Bmc Medicine
Larsson, Susanna C SC; Burgess, Stephen S; Michaëlsson, Karl K
Publication Date: 2018-05-17

Variant appearance in text: rs13146355
PubMed Link: 29769070
Variant Present in the following documents:
  • Main text
  • 12916_2018_Article_1065.pdf
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Lessons from CKD-Related Genetic Association Studies-Moving Forward.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Limou, Sophie S; Vince, Nicolas N; Parsa, Afshin A
Publication Date: 2018-01-06

Variant appearance in text: rs13146355
PubMed Link: 29242368
Variant Present in the following documents:
  • Main text
View BVdb publication page



1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

Scientific Reports
Gorski, Mathias M; van der Most, Peter J PJ; Teumer, Alexander A; Chu, Audrey Y AY; Li, Man M; Mijatovic, Vladan V; Nolte, Ilja M IM; Cocca, Massimiliano M; Taliun, Daniel D; Gomez, Felicia F; Li, Yong Y; Tayo, Bamidele B; Tin, Adrienne A; Feitosa, Mary F MF; Aspelund, Thor T; Attia, John J; Biffar, Reiner R; Bochud, Murielle M; Boerwinkle, Eric E; Borecki, Ingrid I; Bottinger, Erwin P EP; Chen, Ming-Huei MH; Chouraki, Vincent V; Ciullo, Marina M; Coresh, Josef J; Cornelis, Marilyn C MC; Curhan, Gary C GC; d'Adamo, Adamo Pio AP; Dehghan, Abbas A; Dengler, Laura L; Ding, Jingzhong J; Eiriksdottir, Gudny G; Endlich, Karlhans K; Enroth, Stefan S; Esko, Tõnu T; Franco, Oscar H OH; Gasparini, Paolo P; Gieger, Christian C; Girotto, Giorgia G; Gottesman, Omri O; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hancock, Stephen J SJ; Harris, Tamara B TB; Helmer, Catherine C; Höllerer, Simon S; Hofer, Edith E; Hofman, Albert A; Holliday, Elizabeth G EG; Homuth, Georg G; Hu, Frank B FB; Huth, Cornelia C; Hutri-Kähönen, Nina N; Hwang, Shih-Jen SJ; Imboden, Medea M; Johansson, Åsa Å; Kähönen, Mika M; König, Wolfgang W; Kramer, Holly H; Krämer, Bernhard K BK; Kumar, Ashish A; Kutalik, Zoltan Z; Lambert, Jean-Charles JC; Launer, Lenore J LJ; Lehtimäki, Terho T; de Borst, Martin M; Navis, Gerjan G; Swertz, Morris M; Liu, Yongmei Y; Lohman, Kurt K; Loos, Ruth J F RJF; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; McEvoy, Mark A MA; Meisinger, Christa C; Meitinger, Thomas T; Metspalu, Andres A; Metzger, Marie M; Mihailov, Evelin E; Mitchell, Paul P; Nauck, Matthias M; Oldehinkel, Albertine J AJ; Olden, Matthias M; Wjh Penninx, Brenda B; Pistis, Giorgio G; Pramstaller, Peter P PP; Probst-Hensch, Nicole N; Raitakari, Olli T OT; Rettig, Rainer R; Ridker, Paul M PM; Rivadeneira, Fernando F; Robino, Antonietta A; Rosas, Sylvia E SE; Ruderfer, Douglas D; Ruggiero, Daniela D; Saba, Yasaman Y; Sala, Cinzia C; Schmidt, Helena H; Schmidt, Reinhold R; Scott, Rodney J RJ; Sedaghat, Sanaz S; Smith, Albert V AV; Sorice, Rossella R; Stengel, Benedicte B; Stracke, Sylvia S; Strauch, Konstantin K; Toniolo, Daniela D; Uitterlinden, Andre G AG; Ulivi, Sheila S; Viikari, Jorma S JS; Völker, Uwe U; Vollenweider, Peter P; Völzke, Henry H; Vuckovic, Dragana D; Waldenberger, Melanie M; Jin Wang, Jie J; Yang, Qiong Q; Chasman, Daniel I DI; Tromp, Gerard G; Snieder, Harold H; Heid, Iris M IM; Fox, Caroline S CS; Köttgen, Anna A; Pattaro, Cristian C; Böger, Carsten A CA; Fuchsberger, Christian C
Publication Date: 2017-04-28

Variant appearance in text: rs13146355
PubMed Link: 28452372
Variant Present in the following documents:
  • srep45040-s1.pdf
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Genetic epidemiology in kidney disease.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Ainsworth, Hannah C HC; Langefeld, Carl D CD; Freedman, Barry I BI
Publication Date: 2017-04-01

Variant appearance in text: rs13146355
PubMed Link: 28201750
Variant Present in the following documents:
  • Main text
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Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

Nature Genetics
Iotchkova, Valentina V; Huang, Jie J; Morris, John A JA; Jain, Deepti D; Barbieri, Caterina C; Walter, Klaudia K; Min, Josine L JL; Chen, Lu L; Astle, William W; Cocca, Massimilian M; Deelen, Patrick P; Elding, Heather H; Farmaki, Aliki-Eleni AE; Franklin, Christopher S CS; Franberg, Mattias M; Gaunt, Tom R TR; Hofman, Albert A; Jiang, Tao T; Kleber, Marcus E ME; Lachance, Genevieve G; Luan, Jian'an J; Malerba, Giovanni G; Matchan, Angela A; Mead, Daniel D; Memari, Yasin Y; Ntalla, Ioanna I; Panoutsopoulou, Kalliope K; Pazoki, Raha R; Perry, John R B JRB; Rivadeneira, Fernando F; Sabater-Lleal, Maria M; Sennblad, Bengt B; Shin, So-Youn SY; Southam, Lorraine L; Traglia, Michela M; van Dijk, Freerk F; van Leeuwen, Elisabeth M EM; Zaza, Gianluigi G; Zhang, Weihua W; , ; Amin, Najaf N; Butterworth, Adam A; Chambers, John C JC; Dedoussis, George G; Dehghan, Abbas A; Franco, Oscar H OH; Franke, Lude L; Frontini, Mattia M; Gambaro, Giovanni G; Gasparini, Paolo P; Hamsten, Anders A; Issacs, Aaron A; Kooner, Jaspal S JS; Kooperberg, Charles C; Langenberg, Claudia C; Marz, Winfried W; Scott, Robert A RA; Swertz, Morris A MA; Toniolo, Daniela D; Uitterlinden, Andre G AG; van Duijn, Cornelia M CM; Watkins, Hugh H; Zeggini, Eleftheria E; Maurano, Mathew T MT; Timpson, Nicholas J NJ; Reiner, Alexander P AP; Auer, Paul L PL; Soranzo, Nicole N
Publication Date: 2016-11

Variant appearance in text: rs13146355
PubMed Link: 27668658
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.

Nature Genetics
,
Publication Date: 2016-08

Variant appearance in text: rs13146355
PubMed Link: 27399967
Variant Present in the following documents:
  • Main text
  • NIHMS793138-supplement-1.pdf
  • nihms793138.pdf
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Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study.

Bmc Genetics
Tin, Adrienne A; Köttgen, Anna A; Folsom, Aaron R AR; Maruthur, Nisa M NM; Tajuddin, Salman M SM; Nalls, Mike A MA; Evans, Michele K MK; Zonderman, Alan B AB; Friedrich, Christopher A CA; Boerwinkle, Eric E; Coresh, Josef J; Kao, Wen Hong Linda WH
Publication Date: 2015-05-29

Variant appearance in text: rs13146355
PubMed Link: 26058915
Variant Present in the following documents:
  • 12863_2015_219_MOESM1_ESM.pdf
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Common variants associated with general and MMR vaccine-related febrile seizures.

Nature Genetics
Feenstra, Bjarke B; Pasternak, Björn B; Geller, Frank F; Carstensen, Lisbeth L; Wang, Tongfei T; Huang, Fen F; Eitson, Jennifer L JL; Hollegaard, Mads V MV; Svanström, Henrik H; Vestergaard, Mogens M; Hougaard, David M DM; Schoggins, John W JW; Jan, Lily Yeh LY; Melbye, Mads M; Hviid, Anders A
Publication Date: 2014-12

Variant appearance in text: rs13146355
PubMed Link: 25344690
Variant Present in the following documents:
  • NIHMS633400-supplement-1.pdf
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Functional genomic annotation of genetic risk loci highlights inflammation and epithelial biology networks in CKD.

Journal Of The American Society Of Nephrology : Jasn
Ledo, Nora N; Ko, Yi-An YA; Park, Ae-Seo Deok AS; Kang, Hyun-Mi HM; Han, Sang-Youb SY; Choi, Peter P; Susztak, Katalin K
Publication Date: 2015-03

Variant appearance in text: rs13146355
PubMed Link: 25231882
Variant Present in the following documents:
  • Main text
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Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

Nature Genetics
Okada, Yukinori Y; Sim, Xueling X; Go, Min Jin MJ; Wu, Jer-Yuarn JY; Gu, Dongfeng D; Takeuchi, Fumihiko F; Takahashi, Atsushi A; Maeda, Shiro S; Tsunoda, Tatsuhiko T; Chen, Peng P; Lim, Su-Chi SC; Wong, Tien-Yin TY; Liu, Jianjun J; Young, Terri L TL; Aung, Tin T; Seielstad, Mark M; Teo, Yik-Ying YY; Kim, Young Jin YJ; Lee, Jong-Young JY; Han, Bok-Ghee BG; Kang, Daehee D; Chen, Chien-Hsiun CH; Tsai, Fuu-Jen FJ; Chang, Li-Ching LC; Fann, S-J Cathy SJ; Mei, Hao H; Rao, Dabeeru C DC; Hixson, James E JE; Chen, Shufeng S; Katsuya, Tomohiro T; Isono, Masato M; Ogihara, Toshio T; Chambers, John C JC; Zhang, Weihua W; Kooner, Jaspal S JS; , ; , ; Albrecht, Eva E; , ; Yamamoto, Kazuhiko K; Kubo, Michiaki M; Nakamura, Yusuke Y; Kamatani, Naoyuki N; Kato, Norihiro N; He, Jiang J; Chen, Yuan-Tsong YT; Cho, Yoon Shin YS; Tai, E-Shyong ES; Tanaka, Toshihiro T
Publication Date: 2012-07-15

Variant appearance in text: rs13146355
PubMed Link: 22797727
Variant Present in the following documents:
  • Main text
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Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.

Plos Genetics
Meyer, Tamra E TE; Verwoert, Germaine C GC; Hwang, Shih-Jen SJ; Glazer, Nicole L NL; Smith, Albert V AV; van Rooij, Frank J A FJ; Ehret, Georg B GB; Boerwinkle, Eric E; Felix, Janine F JF; Leak, Tennille S TS; Harris, Tamara B TB; Yang, Qiong Q; Dehghan, Abbas A; Aspelund, Thor T; Katz, Ronit R; Homuth, Georg G; Kocher, Thomas T; Rettig, Rainer R; Ried, Janina S JS; Gieger, Christian C; Prucha, Hanna H; Pfeufer, Arne A; Meitinger, Thomas T; Coresh, Josef J; Hofman, Albert A; Sarnak, Mark J MJ; Chen, Yii-Der Ida YD; Uitterlinden, André G AG; Chakravarti, Aravinda A; Psaty, Bruce M BM; van Duijn, Cornelia M CM; Kao, W H Linda WH; Witteman, Jacqueline C M JC; Gudnason, Vilmundur V; Siscovick, David S DS; Fox, Caroline S CS; Köttgen, Anna A; , ; ,
Publication Date: 2010-08-05

Variant appearance in text: rs13146355
PubMed Link: 20700443
Variant Present in the following documents:
  • Main text
  • pgen.1001045.pdf
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