LRP1B c.343+9456G>T

Variant ID: 2-142228509-C-A

NM_018557.2(LRP1B):c.343+9456G>T

This variant was identified in 9 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: rs12472911
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Genes influence facial attractiveness through intricate biological relationships.

Plos Genetics
White, Julie D JD; Puts, David A DA
Publication Date: 2019-04

Variant appearance in text: rs12472911
PubMed Link: 30946742
Variant Present in the following documents:
  • Main text
  • pgen.1008030.pdf
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Age at menarche and lung function: a Mendelian randomization study.

European Journal Of Epidemiology
Gill, Dipender D; Sheehan, Nuala A NA; Wielscher, Matthias M; Shrine, Nick N; Amaral, Andre F S AFS; Thompson, John R JR; Granell, Raquel R; Leynaert, Bénédicte B; Real, Francisco Gómez FG; Hall, Ian P IP; Tobin, Martin D MD; Auvinen, Juha J; Ring, Susan M SM; Jarvelin, Marjo-Riitta MR; Wain, Louise V LV; Henderson, John J; Jarvis, Deborah D; Minelli, Cosetta C
Publication Date: 2017-08

Variant appearance in text: rs12472911
PubMed Link: 28624884
Variant Present in the following documents:
  • 10654_2017_272_MOESM2_ESM.pdf
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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs12472911
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-3.pdf
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Genome-wide association study of age at menarche in African-American women.

Human Molecular Genetics
Demerath, Ellen W EW; Liu, Ching-Ti CT; Franceschini, Nora N; Chen, Gary G; Palmer, Julie R JR; Smith, Erin N EN; Chen, Christina T L CT; Ambrosone, Christine B CB; Arnold, Alice M AM; Bandera, Elisa V EV; Berenson, Gerald S GS; Bernstein, Leslie L; Britton, Angela A; Cappola, Anne R AR; Carlson, Christopher S CS; Chanock, Stephen J SJ; Chen, Wei W; Chen, Zhao Z; Deming, Sandra L SL; Elks, Cathy E CE; Evans, Michelle K MK; Gajdos, Zofia Z; Henderson, Brian E BE; Hu, Jennifer J JJ; Ingles, Sue S; John, Esther M EM; Kerr, Kathleen F KF; Kolonel, Laurence N LN; Le Marchand, Loic L; Lu, Xiaoning X; Millikan, Robert C RC; Musani, Solomon K SK; Nock, Nora L NL; North, Kari K; Nyante, Sarah S; Press, Michael F MF; Rodriquez-Gil, Jorge L JL; Ruiz-Narvaez, Edward A EA; Schork, Nicholas J NJ; Srinivasan, Sathanur R SR; Woods, Nancy F NF; Zheng, Wei W; Ziegler, Regina G RG; Zonderman, Alan A; Heiss, Gerardo G; Gwen Windham, B B; Wellons, Melissa M; Murray, Sarah S SS; Nalls, Michael M; Pastinen, Tomi T; Rajkovic, Aleksandar A; Hirschhorn, Joel J; Adrienne Cupples, L L; Kooperberg, Charles C; Murabito, Joanne M JM; Haiman, Christopher A CA
Publication Date: 2013-08-15

Variant appearance in text: rs12472911
PubMed Link: 23599027
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of GWAS-identified genetic variants for age at menarche among Chinese women.

Human Reproduction (Oxford, England)
Delahanty, R J RJ; Beeghly-Fadiel, A A; Long, J R JR; Gao, Y T YT; Lu, W W; Xiang, Y B YB; Zheng, Y Y; Ji, B T BT; Wen, W Q WQ; Cai, Q Y QY; Zheng, W W; Shu, X O XO
Publication Date: 2013-04

Variant appearance in text: rs12472911
PubMed Link: 23406970
Variant Present in the following documents:
  • Main text
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Pairwise shared genomic segment analysis in three Utah high-risk breast cancer pedigrees.

Bmc Genomics
Cai, Zheng Z; Thomas, Alun A; Teerlink, Craig C; Farnham, James M JM; Cannon-Albright, Lisa A LA; Camp, Nicola J NJ
Publication Date: 2012-11-28

Variant appearance in text: rs12472911
PubMed Link: 23190577
Variant Present in the following documents:
  • Main text
  • 1471-2164-13-676.pdf
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Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.

Human Molecular Genetics
Chen, Christina T L CT; Fernández-Rhodes, Lindsay L; Brzyski, Robert G RG; Carlson, Christopher S CS; Chen, Zhao Z; Heiss, Gerardo G; North, Kari E KE; Woods, Nancy F NF; Rajkovic, Aleksandar A; Kooperberg, Charles C; Franceschini, Nora N
Publication Date: 2012-03-15

Variant appearance in text: rs12472911
PubMed Link: 22131368
Variant Present in the following documents:
  • Main text
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.

Nature Genetics
Elks, Cathy E CE; Perry, John R B JR; Sulem, Patrick P; Chasman, Daniel I DI; Franceschini, Nora N; He, Chunyan C; Lunetta, Kathryn L KL; Visser, Jenny A JA; Byrne, Enda M EM; Cousminer, Diana L DL; Gudbjartsson, Daniel F DF; Esko, Tõnu T; Feenstra, Bjarke B; Hottenga, Jouke-Jan JJ; Koller, Daniel L DL; Kutalik, Zoltán Z; Lin, Peng P; Mangino, Massimo M; Marongiu, Mara M; McArdle, Patrick F PF; Smith, Albert V AV; Stolk, Lisette L; van Wingerden, Sophie H SH; Zhao, Jing Hua JH; Albrecht, Eva E; Corre, Tanguy T; Ingelsson, Erik E; Hayward, Caroline C; Magnusson, Patrik K E PK; Smith, Erin N EN; Ulivi, Shelia S; Warrington, Nicole M NM; Zgaga, Lina L; Alavere, Helen H; Amin, Najaf N; Aspelund, Thor T; Bandinelli, Stefania S; Barroso, Inês I; Berenson, Gerald S GS; Bergmann, Sven S; Blackburn, Hannah H; Boerwinkle, Eric E; Buring, Julie E JE; Busonero, Fabio F; Campbell, Harry H; Chanock, Stephen J SJ; Chen, Wei W; Cornelis, Marilyn C MC; Couper, David D; Coviello, Andrea D AD; d'Adamo, Pio P; de Faire, Ulf U; de Geus, Eco J C EJ; Deloukas, Panos P; Döring, Angela A; Smith, George Davey GD; Easton, Douglas F DF; Eiriksdottir, Gudny G; Emilsson, Valur V; Eriksson, Johan J; Ferrucci, Luigi L; Folsom, Aaron R AR; Foroud, Tatiana T; Garcia, Melissa M; Gasparini, Paolo P; Geller, Frank F; Gieger, Christian C; , ; Gudnason, Vilmundur V; Hall, Per P; Hankinson, Susan E SE; Ferreli, Liana L; Heath, Andrew C AC; Hernandez, Dena G DG; Hofman, Albert A; Hu, Frank B FB; Illig, Thomas T; Järvelin, Marjo-Riitta MR; Johnson, Andrew D AD; Karasik, David D; Khaw, Kay-Tee KT; Kiel, Douglas P DP; Kilpeläinen, Tuomas O TO; Kolcic, Ivana I; Kraft, Peter P; Launer, Lenore J LJ; Laven, Joop S E JS; Li, Shengxu S; Liu, Jianjun J; Levy, Daniel D; Martin, Nicholas G NG; McArdle, Wendy L WL; Melbye, Mads M; Mooser, Vincent V; Murray, Jeffrey C JC; Murray, Sarah S SS; Nalls, Michael A MA; Navarro, Pau P; Nelis, Mari M; Ness, Andrew R AR; Northstone, Kate K; Oostra, Ben A BA; Peacock, Munro M; Palmer, Lyle J LJ; Palotie, Aarno A; Paré, Guillaume G; Parker, Alex N AN; Pedersen, Nancy L NL; Peltonen, Leena L; Pennell, Craig E CE; Pharoah, Paul P; Polasek, Ozren O; Plump, Andrew S AS; Pouta, Anneli A; Porcu, Eleonora E; Rafnar, Thorunn T; Rice, John P JP; Ring, Susan M SM; Rivadeneira, Fernando F; Rudan, Igor I; Sala, Cinzia C; Salomaa, Veikko V; Sanna, Serena S; Schlessinger, David D; Schork, Nicholas J NJ; Scuteri, Angelo A; Segrè, Ayellet V AV; Shuldiner, Alan R AR; Soranzo, Nicole N; Sovio, Ulla U; Srinivasan, Sathanur R SR; Strachan, David P DP; Tammesoo, Mar-Liis ML; Tikkanen, Emmi E; Toniolo, Daniela D; Tsui, Kim K; Tryggvadottir, Laufey L; Tyrer, Jonathon J; Uda, Manuela M; van Dam, Rob M RM; van Meurs, Joyce B J JB; Vollenweider, Peter P; Waeber, Gerard G; Wareham, Nicholas J NJ; Waterworth, Dawn M DM; Weedon, Michael N MN; Wichmann, H Erich HE; Willemsen, Gonneke G; Wilson, James F JF; Wright, Alan F AF; Young, Lauren L; Zhai, Guangju G; Zhuang, Wei Vivian WV; Bierut, Laura J LJ; Boomsma, Dorret I DI; Boyd, Heather A HA; Crisponi, Laura L; Demerath, Ellen W EW; van Duijn, Cornelia M CM; Econs, Michael J MJ; Harris, Tamara B TB; Hunter, David J DJ; Loos, Ruth J F RJ; Metspalu, Andres A; Montgomery, Grant W GW; Ridker, Paul M PM; Spector, Tim D TD; Streeten, Elizabeth A EA; Stefansson, Kari K; Thorsteinsdottir, Unnur U; Uitterlinden, André G AG; Widen, Elisabeth E; Murabito, Joanne M JM; Ong, Ken K KK; Murray, Anna A
Publication Date: 2010-12

Variant appearance in text: rs12472911
PubMed Link: 21102462
Variant Present in the following documents:
  • Main text
View BVdb publication page